Sabrina Sacconi
Verified @chu-nice.fr
Scopus Publications
- French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice
Gianmarco Severa, Sarah Souvannanorath, Iman Tahiri, Christophe Alimi, Abderhmane Slioui, Luisa Villa, Emmanuelle Salort-Campana, France Leturcq, Nathalie Streichenberger, Martin Krahn, Guilhem Solé, Léonard Feasson, Aleksandra Nadaj-Pakleza, Celine Tard, Tanya Stojkovic, Sabrina Sacconi, Edoardo Malfatti
Orphanet Journal of Rare Diseases, 2026
Calpainopathies, including limb-girdle muscular dystrophy recessive type 1 (LGMD R1) and the rare dominant type 4 (LGMD D4), are genetic neuromuscular disorders caused by pathogenic variants in the CAPN3 gene, which encodes calpain-3, a muscle-specific cysteine protease. This protein plays a crucial role in muscle remodelling, calcium homeostasis, and myogenesis regulation. LGMD R1, the most common form of LGMD, is characterized by progressive, symmetrical muscle weakness primarily affecting the shoulder and pelvic girdles, with an onset ranging from childhood to adulthood. It affects about 1 in 100,000 individuals. The clinical spectrum is wide, with three main phenotypes: pelvifemoral myopathy, scapulohumeral myopathy, and isolated hyperCKemia. LGMD D4 is characterized generally by a milder phenotype with variable but frequent axial muscle involvement. Diagnostic algorithm include serum CK levels dosage, muscle imaging, and sometimes a muscle biopsy, with definitive diagnosis confirmed by CAPN3 gene testing. Calpainopathies have no cure and care is focused on physiotherapy, management of muscle contractures, moderate physical activity, and orthosis. The newly established French National Diagnosis and Care Protocol (NDCP) aim to standardize the diagnosis and care of calpainopathies. The protocol emphasizes early diagnosis, personalized patient care, genetic assessment and prevention of disease progression. This initiative aims to reduce diagnostic delays and improve patient outcomes through a harmonized multidisciplinary approach, informed by the latest clinical and research expertise. - Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework
Claudia Strafella, Hannes Erdmann, Jorge Alfredo Bevilacqua, Enzo Ricci, Gina Ravenscroft, Tsuyoshi Matsumura, Venugopalan Y. Vishnu, Rasha El Sherif, Piraye Oflazer, Domenico Muratori, Fabio Figueiredo, Valeria Sansone, Sabrina Sacconi, Giulia Ricci, Massimiliano Filosto, Tersinha Evangelista, Alberto Luis Rosa, Alexandra Belayew, Angela Abicht, Frederique Magdinier, Emiliano Giardina
Neuromuscular Disorders, 2026 - Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study
Alexandre Guérémy, V. Morel, T. Stojkovic, F. Bouhour, A. Nadaj Pakleza, J. Nectoux, E. Fortanier, A. Magot, S. Sacconi, B. Eymard, C. Metay, F. Duval, M. L. Martin‐Negrier, M. Cerino, L. Michel, R. Menassa, M. Cossée, L. Barbat du Closel, A. Behin, F. Leturcq, J. B. Noury, M. Krahn, G. Sole, E. Pion, S. Gorokhova, S. Attarian, E. Salort‐Campana
Muscle and Nerve, 2026
Introduction/Aims LGMDR8 is a very rare autosomal recessive limb‐girdle muscular dystrophy caused by variants in the TRIM32 gene. To date, 92 cases have been reported, mainly in the Hutterite population with a founder effect. This study aimed to describe a cohort of European origin and to investigate genotype–phenotype correlations. Methods We conducted a retrospective, multicenter study of 14 French patients with genetically confirmed LGMDR8. Clinical, histological, electrodiagnostic, imaging, and genetic data were collected and compared with those from previously published cases. Results Patients showed a slowly progressive disease course, with a mean age at onset of 25.1 years (range 7.5–40.0). The main presenting symptom was proximal lower limb weakness ( n = 13). At last follow‐up, all patients had proximal lower limb weakness, 10/14 had upper limb involvement, and 10/14 had distal lower limb weakness. Six patients lost ambulation (mean disease duration: 27.3 years). No cardiac or respiratory involvement was observed. Mean creatine kinase levels were mildly elevated (4.5× upper limit of normal). Muscle biopsies exhibited dystrophic features. Ragged‐red and COX‐negative fibers were observed in two patients. Muscle magnetic resonance imaging revealed symmetrical involvement predominantly affecting posterior thigh muscles. Fourteen distinct pathogenic variants were identified, including eight new ones. Six variants were located in the C‐terminal domain. LGMDR8 was estimated to account for 0.9% of the LGMD cases in France. No clear genotype–phenotype correlation was found. Discussion LGMDR8 is very rare in non‐Hutterite patients. Age of onset is highly variable. Variants are distributed across most protein domains and did not predict clinical severity. - Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, and
Annals of Neurology, 2026
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months. Methods Adult patients with FSHD at 8 sites underwent EIM in 6 muscles bilaterally (deltoid, biceps, triceps, vastus lateralis, tibialis anterior, and medial gastrocnemius). EIM outcomes phase and reactance (50 and 100 kHz [kilohertz] frequencies) and 50 of 211 kHz phase ratio were evaluated for reliability, correlations with clinical measures, and sensitivity to change. Results One hundred fifty‐seven patients (53% male patients) were included. Test–retest reliability was excellent for all EIM outcomes (intraclass correlation coefficient [ICC] ≥0.94). Phase outcomes strongly correlated with the FSHD‐composite outcome measure (FSHD‐COM; r ≤ −0.69) and Motor Function Measure Domain 1 (MFM1; r ≥ 0.75); reactance outcomes exhibited moderate correlations with the FSHD‐COM ( r ≥ –0.41) and MFM1 ( r ≤ 0.44). Mean declines in phase and phase ratio were apparent at 12 months (eg, –0.25, 95% confidence interval [CI] = –0.45 to –0.05 at 50 kHz), and further progressed through 24 months (–0.66, 95% CI = –0.92 to –0.40] at 50 kHz and –0.65 [95% CI = –0.87 to –0.44] at 100 kHz; both p < 0.0001). Reactance changes were smaller and not significant: –0.21 (95% CI = –0.44 to 0.02) at 50 kHz and –0.13 (95% CI = –0.35 to 0.10) at 100 kHz. Interpretation EIM phase outcomes are reliable, valid, and sensitive to change over 12 to 24 months, supporting their potential utility as biomarkers in FSHD clinical trials. ANN NEUROL 2026 - Late-onset facioscapulohumeral muscular dystrophy defines a distinct clinical subgroup
Giulia Tammam, Sandra Dhifallah, Hongmei Yang, Manuela Gambella, Jonathan Pini, Russell J Butterfield, Elena Carraro, Katy Eichinger, Bakri Elsheikh, Nicholas E. Johnson, Doris G. Leung, Leann Lewis, William B. Martens, Karlien Mul, Valeria A Sansone, Perry B. Shieh, Kathryn R. Wagner, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, Sabrina Sacconi
Neuromuscular Disorders, 2026 - Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review
Simona Maccora, Vincenzo Di Stefano, Filippo Brighina, Sabrina Sacconi, Angela Puma
Neuropediatrics, 2026
The diagnosis of peripheral polyneuropathy in children and the differential diagnosis among its various forms often present a challenge, also because electrodiagnostic studies can be painful and sometimes yield inconclusive results. This systematic review examines the role of nerve ultrasound (n-US) in the diagnosis and follow-up of pediatric polyneuropathies. We searched PubMed and Embase from 1975 to April 1, 2025. Included studies assessed patients aged ≤ 18 years with clinically and neurophysiologically confirmed polyneuropathy, providing pediatric-specific qualitative or quantitative n-US findings. Eighteen studies met the inclusion criteria. Six focused on acquired inflammatory polyneuropathies (three on Guillain–Barré Syndrome [GBS], three on Chronic Inflammatory Demyelinating Polyneuropathy [CIDP]), eight on Charcot–Marie–Tooth disease (CMT), two on lysosomal storage disorders, one on Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS), and one on mixed etiologies. Most (n = 7) were case reports. Cross-sectional area and nerve enlargement (NE) distribution were the main parameters evaluated. Marked, diffuse NE was found in demyelinating CMT and lysosomal disorders; CIDP showed diffuse and multifocal NE; GBS presented mild and proximal NE. No NE was reported in axonal CMT or ARSACS. Few studies assessed echogenicity or fascicular structure; none evaluated vascularization. n-US shows promise in differentiating demyelinating conditions such as CMT, CIDP, GBS, and certain metabolic syndromes in children. However, further age-matched control studies are needed, given that nerve growth and myelination peak between 15 and 17 years. Future research should explore n-US as an early diagnostic, screening, and follow-up tool. - Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study
Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, Amel Karaa, Cecile Rouzier, Cristina Domínguez-González, Costanza Lamperti, Michelangelo Mancuso, , Giulia Cecchi, Vincenzo Montano, Gabriele Siciliano, Valeria Nicoletta, Mariantonietta Maioli, Guido Primiano, Serenella Servidei, Chiara La Morgia, Valerio Carelli, Maria Lucia Valentino, Leonardo Caporali, Ignazio Giuseppe Arena, Olimpia Musumeci, Diego Lopergolo, Alessandro Malandrini, Gian Nicola Gallus, Massimiliano Filosto, Luca Bello, Elena Pegoraro, Giacomo Pietro Comi, Francesca Magri, Dario Ronchi, Alessio Di Fonzo, Marco Percetti, Matteo Azzimonti, Boriana Büchner, Holger Prokisch, Laura Bermejo-Guerrero, Vincent Procaccio, Pauline Gaignard, Andoni Echaniz-Laguna, Manuel Schiff, Agnès Rötig, Annick Toutain, Véronique Paquis-Flucklinger, Godelieve Morel, Stéphanie Robin, Aleksandra Nadaj-Pakleza, Jean-Baptiste Chanson, Annabelle Chaussenot, Samira Ait-El-Mkadem Saadi, Aurélien Trimouille, Christine Tranchant, Emmanuelle Salort-Campana, Eric Bieth, Sabrina Sacconi, Fanny Duval, Juan Luis Restrepo Vera, Maria Judit Molnar, John Vissing, Richard Haas, Austin Larson, Gregory M. Enns, Sumit Parikh, Amy Goldstein, Michio Hirano
Neurology, 2026
BACKGROUND AND OBJECTIVES: gene, is a mitochondrial DNA helicase that unwinds the double helix of DNA during replication, playing a pivotal role in mitochondrial function. Twinkle-related disorders encompass a variety of genetic disorders characterized by mitochondrial dysfunction. Although several phenotypes have been described, the full clinical and molecular spectrum remains poorly defined. The aim of this study was to characterize the phenotypic and genotypic variability among multinational patients diagnosed with Twinkle-related disorders. METHODS: A retrospective cohort study was conducted in patients with Twinkle-related disorders at several specialized centers in Italy, France, Germany, Spain, Denmark, Hungary, and the United States, establishing the Twinkle-Related Disorders International Consortium for Trial Readiness (TReDIC). Data were collected from medical records, including clinical features, age at onset, disease progression, and results from genetic testing. Phenotypic categories included infantile-onset cerebellar ataxia, parkinsonism, primary mitochondrial myopathy (PMM), multisystem involvement, asymptomatic carriers, undetermined phenotypes, and other phenotypes. All patients' diagnoses were confirmed by genetic analysis, and their genetic variants were noted. Outcomes included prevalence of phenotypes, symptom chronology, and mutational patterns. RESULTS: variants (16 novel) were found, mostly missense, clustered in functionally critical regions. DISCUSSION: This large multinational cohort analysis advances our understanding of Twinkle-related disorders by identifying mutational hotspots with clinical relevance and illustrating the broad phenotypic spectrum and progression patterns. In the context of such rare diseases, the formation of international collaborations, such as TReDIC, can enhance our understanding and support the design of upcoming clinical trials. - Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi
Annals of Clinical and Translational Neurology, 2026
ObjectiveFacioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited.MethodsWe analyzed pooled data from two prospective longitudinal cohorts: CTRN‐FSHD France (NCT04038138) and Cytokine FSHD (NCT04694456), each comprising 30 genetically confirmed ambulant FSHD1 patients. Serum IL‐6 levels and clinical assessments were collected at baseline (M0), 12 months (M12), and 18 months (M18); whole‐body muscle MRI (T1‐weighted and STIR sequences) was obtained at M0 and M12. Associations between IL‐6 levels and clinical severity scores, functional measures, and MRI‐derived muscle composition were evaluated.ResultsSerum IL‐6 levels correlated significantly with clinical severity metrics, including Clinical Severity Score, 6‐Minute Walk Test, Manual Muscle Testing, and Motor Function Measure Domain 1 at all time points. Higher IL‐6 levels were associated with increased muscle fat infiltration and free water content compatible with muscle edema on MRI. Longitudinal analyses showed that increases in IL‐6 over 12 months were significantly correlated with changes in T1 (fat infiltration) and STIR (muscle edema) composite scores, reflecting structural and inflammatory disease progression.InterpretationThese findings validate IL‐6 as a biomarker of FSHD1 severity and underscore its potential as an activity and progression biomarker. The correlation between IL‐6, clinical scores, and MRI‐based muscle composition changes highlights its potential utility for monitoring disease evolution and evaluating therapeutic responses in FSHD1 patients. - EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia
T. Kyriakides, K. Aleksovska, C. Angelini, Z. Argov, K. G. Claeys, M. de Visser, M. FIlosto, I. Jovanovic, A. Kostera‐Pruszczyk, M. J. Molnar, S. Sacconi, J. Schaefer, G. Siciliano, J. J. Vilchez, B. Schoser, A. Toscano
European Journal of Neurology, 2026
Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years. Methods The guideline followed EAN standard operating procedures and was developed according to the GRADE methodology. Fourteen neuromuscular experts from the EAN neuromuscular group were joined by a methodologist and a patient representative. There are two types of recommendations: evidence‐based recommendations, based on published studies, and consensus statements if the quality of evidence is poor. Results We recommend that: (1) Persistent oligo/asymptomatic hyperCKemia with a CK > 1.5 ULN be investigated (Consensus statement); (2) Neurogenic and non‐neuromuscular causes of hyperCKemia be excluded (Expert opinion); (3) A Dried Blood Spot (DBS) be done (Strong recommendation); (4) A NCS/EMG to identify whether there is a myopathy or neuropathy be performed (Weak recommendation); (5) A resting lactate and fasting acyl‐carnitine assays, if a metabolic myopathy is suspected, be done (Consensus statement); (6) A skeletal muscle MRI be performed to guide/interpret genetic testing (Strong recommendation); (7) NGS is recommended over sequential gene testing (Consensus statement); (8) NGS is recommended over muscle biopsy (Strong recommendation); (9) A muscle biopsy may be offered, if genetic testing is uninformative and one or more applies: a genetic variant of unknown significance (VUS), suspected metabolic myopathy, suspected inflammatory myopathy, abnormal muscle MRI, a CK ≥ 3 ULN, a family history of muscle disease or age, less than 25 years (Expert opinion). Conclusions An evidence‐based guideline is suggested for when and how to investigate adults with oligo/asymptomatic hyperCKemia. - Polymorphic myopathological findings in a 77-year-old woman with oculo-bulbo-facial and distal weakness
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti
Brain Pathology, 2026
Access at https://isn-slidearchive.org/?col=ISN&fol=Archive&file=ID-7449113.ome.tif. A 77-year-old woman began experiencing bilateral ptosis without ophthalmoplegia and facial diplegia at 40 years. There was no history of prenatal or neonatal complications, and her motor milestones were achieved on time. Her neurodevelopment was normal, with no signs suggestive of a congenital myopathy during infancy or childhood. She later developed progressive myalgias and muscle weakness affecting both proximal and distal muscles, accompanied by bilateral foot drop and distal amyotrophy. She also reported dysphagia for solids and exertional dyspnea. A broad laboratory work-up was unrevealing, including CBC, biochemistry, thyroid function, serum protein electrophoresis, viral serologies, metabolic screening of very long- and medium-chain fatty acids, and acid maltase enzyme testing. Neuromuscular junction antibodies (AChR, VGCC) were negative. Genetic testing excluded facioscapulohumeral dystrophy type 1 and myotonic dystrophy type 1 (Box 1). Electromyography showed a myopathic pattern, characterized by short-duration, low-amplitude polyphasic motor unit potentials in both lower and upper extremities. A left deltoid muscle biopsy, obtained at the age of 76, revealed myopathic alterations characterized by significant fiber size variation and rounded muscle fibers encircled by fibrotic tissue. Quantitative morphometry revealed a pattern of generalized fiber hypotrophy (49% measuring <1000 μm2), while large fibers (>6000 μm2) represented a minor fraction (18%). Isolated necrotic and regenerating fibers were present. No endomysial inflammatory infiltrates or neurogenic changes such as angulated atrophic fibers were identified. Type I fibers were hypotrophic and slightly predominant, more grouped in some areas. Approximately 60% of muscle fibers exhibited centrally located nuclei (Figure 1A), predominantly in Type I fibers. Additionally, some fibers displayed nuclear clustering (Figure 1A) and radial sarcoplasmic strands (RSSs), which were evident on nicotinamide adenine dinucleotide reductase (NADH) staining (Figure 1B). Isolated (<1%) cytochrome c oxidase-negative, succinate dehydrogenase-positive fibers and rare ragged-red fibers were observed, consistent with age-related changes rather than a primary mitochondrial disorder. Immunohistochemical analysis demonstrated multifocal sarcolemmal expression of major histocompatibility complex class I (MHC-I) (Figure 1D), and C5b-9 deposits were observed on the sarcolemmal membrane of isolated viable fibers, without capillary deposition (not shown). Electron microscopy corroborated the presence of muscle fibers with centrally located nuclei, which were surrounded by abundant autophagic material (Figure 1F). Furthermore, examination of other fibers revealed radial myofibril arrangements. These fibers demonstrated a progressive decrease in myofibril diameter from the periphery towards the center, resulting in a distinct spoke-like radiating pattern (Figure 1E). Ultrastructural examination did not reveal mitochondrial abnormalities such as paracrystalline inclusions or significantly increased mitochondria. The complex myopathological profile guided subsequent genetic analysis toward a congenital myopathy target gene panel. The genetic analysis revealed the presence of a previously described pathogenic heterozygous c.1106G>A (p.Arg369Gln) variant in exon 8 of the DNM2 gene, confirming the diagnosis of a DNM2-related CNM. This case illustrates the polymorphic nature of DNM2-related CNM, demonstrating overlapping myopathological features of other CNMs. In this age group, the phenotype can mimic myasthenia gravis, inclusion body myositis, oculopharyngeal muscular dystrophy, mitochondrial myopathies, lower motor neuron disorders, or neuropathies, making diagnosis challenging. The muscle biopsy provided key diagnostic clues. The markedly increased centralized nuclei strongly suggested a congenital myopathy rather than myotonic dystrophy, which was also excluded by negative genetic testing. Additional structural abnormalities such as RSS and a spoke-like myofibrillar pattern, type I fiber predominance and hypotrophy were characteristic of DNM2-related CNM. Other biopsy findings were considered age-related, including rare ragged-red fibers and a small proportion of COX-negative fibers, with no evidence of primary mitochondrial disease. Although it may reflect the convergence of morphological features, it may reflect age-related amplification of common pathological pathways or, alternatively, the involvement of shared downstream mechanisms in CNM pathogenesis. C5b-9 deposits were confined to isolated viable fibers and MHC-I overexpression occurred without inflammatory infiltrates, arguing against inflammatory myopathy. The integration of clinical data, electrophysiology, detailed myopathological, and genetic confirmation remains essential. EM conceived the study. MT drafted the manuscript. EM and MT performed the histological and immunohistological analysis. AP, GS, and EF revised the manuscript. EM, SS, and LV contributed to the study design and supported the process of drafting and submitting the manuscript. The authors declare no conflicts of interest. The data that support the findings of this study are available from the corresponding author upon reasonable request. - Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature
Giulia Tammam, Luisa Villa, Richard J. L. F. Lemmers, Jonathan Pini, Abderhmane Slioui, Laura Bouchareychas, Yann David, Mihai‐Bogdan Ioncea, Leonardo Salviati, Michele Cavalli, Andra Ezaru, Angela Puma, Jan J. Verschuuren, Silvère M. van der Maarel, Sabrina Sacconi
European Journal of Neurology, 2026 - Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients
Gianmarco Severa, Sultan Bastu, Giovanni Umberto Borin, Xavier Decrouy, Anna Codina, Kaouthar Kefi, Baptiste Periou, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Sabrina Sacconi, Claude-Alain Maurage, Céline Tard, Cristina Jou, Andres Nascimiento Osorio, Valentina Taglietti, Edoardo Malfatti
Journal of Neuropathology and Experimental Neurology, 2026 - E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021: Remote Monitoring: New Solutions for New Avenues in Neuromuscular Disorders
Erika Schirinzi, Mario Alessandro Bochicchio, Hanns Lochmüller, John Vissing, Jordie-Diaz-Manerae, Teresinha Evangelista, Jean-Philippe Plançon, Luca Fanucci, Marco Marini, Alessandro Tonacci, Michelangelo Mancuso, Sandrine Segovia-Kueny, Antonio Toscano, Corrado Angelini, Benedikt Schoser, Sabrina Sacconi, Gabriele Siciliano, and
Journal of Neuromuscular Diseases, 2026 - Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data
Abderhmane Slioui, Giulia Tammam, Fiammetta Vanoli, Adela Della Marina, Stanislav Vohanka, Nils Erik Gilhus, Isabella Moroni, Maria Isabel Leite, Fredrik Piehl, Carlo Antozzi, Jonathan Pini, Frauke Stascheit, Shahram Attarian, Ernestina Santos, Jan Verschuuren, Lou Canonge, Jeremy Garcia, Caroline Perriard, Elena Cortés-Vicente, Renato Mantegazza, Andreas Meisel, Sabrina Sacconi
Orphanet Journal of Rare Diseases, 2025 - Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry
Benoît Sanson, Abderhmane Slioui, Jérémy Garcia, Lori Klouvi, Julie Lejeune, Caroline Stalens, Céline Guien, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Juliette Nectoux, Sharham Attarian, Anne-Laure Bédat-Millet, Françoise Bouhour, François Constant Boyer, Jean-Baptiste Chanson, Ariane Choumert, Pascal Cintas, Elisa De La Cruz, Léonard Féasson, Maxime Fournier, Karima Ghorab, Agnès Jacquin-Piques, Pascal Laforêt, Armelle Magot, Maud Michaud, Jean-Baptiste Noury, Guilhem Solé, Marco Spinazzi, Tanya Stojkovic, Céline Tard, Luisa Villa, Christophe Béroud, Sabrina Sacconi, and
Orphanet Journal of Rare Diseases, 2025 - Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, Anaïs Brassier, Isabelle Durand-Zaleski, Pascal Laforêt, , Azzeddine Arrassi, Anne-Laure Bedat-Millet, Anthony Béhin, Stéphane Beltran, Françoise Bouhour Fatima Bouibede, Catherine Caillaud, Brigitte Chabrol, Murielle Champeaux, Pascal Cintas, Jean-Baptiste Davion, Eva Diab, Joelle Deibener-Kaminsky, Florence Demurger, Caroline Espil, Florence Esselin, François Feillet, Maxime Fournier, Roseline Froissart, Karima Ghorab, Charlene Gillet, Magali Gorce, Dalil Hamroun, Jean-Yves Hogrel, Frédéric Huet, Elsa Krim, François Labarthe, Emmeline Lagrange, Françoise Lebeau, Claire Lefeuvre, Armelle Magot, Laurent Magy, Marcel Maillet-Vioud, Marion Masingue, Karine Mention, Maud Michaud, Aleksandra Nadaj-Pakleza, Sylvain Nollet, Adeline Not, Jean-Baptiste Noury, David Orlikowski, Caroline Paricio, Thierry Perez, Samia Pichard, Hélène Prigent, Dimitri Renard, Juliette Ropars, Sabrina Sacconi, Emmanuelle Salort-Campana, Guilhem Sole, Marco Spinazzi, Frédéric Taithe, Nadjib Taouagh, Céline Tard, Marine Tardieu, Ségolène Toquet, Guy Touati, Patrick Vandeputte, Annie Verschueren, Didier Vincent, Ulrike Walther-Louvier, Taissir Ziri
Orphanet Journal of Rare Diseases, 2025 - Nitrous Oxide–Associated Myelopolyneuropathy—A Case Series
Michele Cavalli, Andra Ezaru, Adrien Olivero, Sabrina Sacconi, Anca Negrila, Angela Puma, Luisa Villa, Véronique Bourg, Cristina Tiu, Nicolae Grecu
Journal of Clinical Neuromuscular Disease, 2025 - Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)
Rémy Dumas, Anne‐Sophie Jannot, Nabila Elarouci, Emmanuelle Salort‐Campana, Lucie Pisella, Céline Tard, Sabrina Sacconi, Françoise Bouhour, Elisabeth Sarrazin, Marco Spinazzi, Pascal Laforet, Yann Pereon, Aleksandra Nadaj‐Pakleza, Andoni Echaniz‐Laguna, Ariane Choumert, Laurent Magy, Léonard Feasson, Florence Esselin, Claude Cances, Caroline Espile, Isabelle Desguerre, Cécile Rouzier, Pascal Cintas, Tanya Stojkovic, Guilhem Solé, Shahram Attarian, and
European Journal of Neurology, 2025 - Improvement in Patient-Reported Symptoms of Generalised Myasthenia Gravis With Rozanolixizumab in the Randomised Phase 3 MycarinG Study Using the MG Symptoms PRO
Henry J. Kaminski, Carlo Antozzi, Ali A. Habib, Robert M. Pascuzzi, Sabrina Sacconi, Kimiaki Utsugisawa, John Vissing, Antoine Regnault, Asha Hareendran, Fiona Grimson, Thaïs Tarancón, Vera Bril, and
European Journal of Neurology, 2025 - Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I
Angela Puma, Giulia Tammam, Andra Ezaru, Abderhmane Slioui, Eleonora Torchia, Giorgio Tasca, Luisa Villa, Michele Cavalli, Leonardo Salviati, Patrick J. van der Vliet, Richard JLF Lemmers, Jonathan Pini, Silvère M. van der Maarel, Sabrina Sacconi
European Journal of Human Genetics, 2025 - Exploring Ultrasonographic Atypical Aspects in Drug-Resistant Multifocal Chronic Inflammatory Demyelinating Polyneuropathy
Angela Puma, Aurora Parrotta, Nicolas Azulay, Andra Ezaru, Michele Cavalli, Mihai Ioncea, Luisa Villa, Nicolae Grecu, Giulia Tammam, Sabrina Sacconi, Simona Maccora, Charles Raffaelli
Brain and Behavior, 2025 - 278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands
Sabrina Sacconi, Fiammetta Vanoli, Frauke Stascheit, Elena Cortés-Vicente, Renato Mantegazza, Andreas Meisel
Neuromuscular Disorders, 2025 - What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review
Katina Aleksovska, Theodoros Kyriakides, Corrado Angelini, Zohar Argov, Kristl G. Claeys, Marianne de Visser, Massimiliano Filosto, Ivanka Jovanovic, Anna Kostera‐Pruszczyk, Maria Julia Molnar, Sabrina Sacconi, Jochen Schaefer, Gabriele Siciliano, Juan J. Vilchez, Antonio Toscano, Benedikt Schoser
European Journal of Neurology, 2025 - Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey
M.T.A. Kruse, B.A.S. Olde Dubbelink, M. Kroneman, I. de Groot, S. Schlüter, M. de Visser, T. Evangelista, A. Moretti, D. Weber, L.M. Ward, N.C. Voermans, A. D'Amico, J. Baets, M. Baumann, N. van der Beek, J. De Bleecker, A. Bruijnes, K. Claeys, C. Bruno, M. Dambrauskiene, E. D'Errico, M. Filosto, M. Gosk-Tomek, S. Herdewyn, C. Kornblum, A. Kostera-Pruszczyk, L. Maggi, F. Manganelli, W. Mueller-Felber, F. Munell, A. Nadaj-Pakleza, A. Nascimento, M. Olive, K. Ørstavik, J. Palmio, E. Pegoraro, B. Peterlin, A.T. van der Ploeg, S. Quijano-Roy, G. Remiche, G. Ricci, M. Rohlenová, A. Rosenbohm, S. Sacconi, V. Sansone, M. Santos, U. Schara-Schmidt, S. Servidei, G. Siciliano, D. Soler, T. Stojkovic, L. Vali, J. Verschuuren, K. Viktorija, R.I. Wadman, M.C. Walter, C. Weiss, E. Zamba-Papanicolaou, A. Zambon
Journal of the Neurological Sciences, 2025 - Safety and efficacy of chronic weekly rozanolixizumab in generalized myasthenia gravis: the randomized open-label extension MG0004 study
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Papadopoulou, Matthildi Papathanasiou, Véronique Paquis, Béatrice Parfait, Camille Paris, Clara Paris, Françoise Paris, Eric Pasmant, Marlène Pasquet, Marie Passet, Cédric Pastoret, Olivier Patat, Léa Patay, Antoine Paul, Céline Pebrel-Richard, Cristina Peduto, Regis Peffault de Latour, Antoine Pegat, Annick Pelletier, Valérie Pelletier, Fanny Pellisson, Perrine Pennamen, Victor Pereira, Julie Pernin-Grandjean, Julien Péron, Alexandre Perrier, Lionel Perrier, Laurence Perrin, Isabelle Perthus, Arnaud Petit, Audrey Petit, Florence Petit, François Petit, Yuliya Petrov, Hugo Peyre, Christophe Philippe, Juliette Piard, Elise Pierre-Noël, Gaëlle Pierron, Clément Pimouguet, Véronique Pingault, Stéphane Pinson, Emmanuelle Pion, Julie Plaisancié, Marc Planes, Pauline Planté-Bordeneuve, William Plas, Morgane Plutino, Ludivine Poignie, Vianney Poinsignon, Marilyne Poirée, Nicolas Pons, Bénédicte Pontier, Valérie Porquet-Bordes, Camille Porteret, Delphine Potier, Louis Potier, Damien Pouessel, Laura Poujade, Marie Preau, Claude Preudhomme, Fabienne Prieur, Vincent Probst, Vincent Procaccio, Caroline Prot-Bertoye, Delphine Prunier, Jacques Puechberty, Mathilde Pujalte, Leila Qebibo, Sylvia Quemener-Redon, Isabelle Quérée, Susana Quijano-Roy, Nicolas Quirin, Caroline Racine, Sandra Raimbault, Judith Raimbourg, Marine Rajaoba, Thomas Rambaud, Carole Ramirez, Francis Ramond, Kara Ranguin, Antonio Rausell, Jean-Marie Ravel, Claudia Ravelli, Gerald Raverot, Isabelle Ray-Coquard, Caroline Raynal, Patricia Réant, Vinciane Rebours, Richard Redon, Yves Réguerre, Philippe Reix, Cécile Renard, Mathilde Renaud, John Rendu, Céline Renoux, Romain Rey, Rachel Reynaud, Lucie Rhinan, Florence Riant, Florence Riccardi, Pascale Richard, Agathe Ricou, Vincent Rigalleau, Marlène Rio, Axelle Rivière, Patrick Robelin, Marion Robert, Thomas Robert, Barbara Rohmer, Pauline Romanet, Arnaud Romoli, Sophie Rondeau, Caroline Rooryck, Bertrand Roquelaure, Jérémie Rosain, Massimiliano Rossi, Sylvie Rossignol, Anya Rothenbuhler, Nadège Rouel, Marine Rouillon, Anne-Francoise Roux, Nathalie Roux-Buisson, Cécile Rouzier, Emmanuel Roze, Lyse Ruaud, Valentin Ruault, Claire Ruysschaert, Esma Saada, Samira Saadi - Ait El Mkadem, Thoueiba Saandi, Niki Sabour, Sabrina Sacconi, Raphaël Saffroy, Hana Safraou, Virginie Saillour, Aude Saint Pierre, Cécile Saint-Martin, Pierre Saintigny, Gaëlle Salaun, David Salgado, Laurence Salle, Didier Samuel, Damien Sanlaville, Laure Sapey-Triomphe, Sabine Sarnacki, Elisabeth Sarrazin, Catherine Sarret, Véronique Satre, Pascale Saugier-Veber, Paul Saultier, Laure Saumet, Elise Schaefer, Nicolas Scheyer, Isabelle Schiff, Gudrun Schleiermacher, Nicolas Schleinitz, Caroline Schluth-Bolard, Anouck Schneider, Bertrand Schwartz, Jean-Marc Sebaoun, Margaux Serey-Gaut, Hassan Serrier, Aude Servais, Marine Serveaux-Dancer, Nicolas Sevenet, Antoine Seyve, Alicia Sibony-Cohen, Flore Sicre de Fontbrune, Sabine Sigaudy, François Sigaux, Fatoumata Simaga, Victor Simmet, Pauline Simon, Sophie Simon, François Sirveaux, Thomas Smol, Guilhem Solé, Gwendoline Soler, Pauline Solignac, Marie-Hélène Soriani, Isabelle Soubeyran, Jean Soulier, Laurent Spelle, Brian Sperelakis-Beedham, Marco Spinazzi, Marta Spodenkiewicz, Anne Spraul, Barbara Squiban, Arunya Srikaran, Julie Steffann, Anamaria Stetco, Radka Stoeva, Tanya Stojkovic, Dominique Stoppa-Lyonnet, Felipe Suarez, Pierre Sujobert, Juliette Svahn, Minh-Chau Ta, Anne-Claude Tabet, Gaëlle Tachon, Matthias Tallegas, Anne Tallet, Pierre-Edmond Tambourin, Julie Tandonnet, Véronique Tardy, Emmanuelle Tavernier, Dimitri Tchernitchko, Marie-Hélène Teillon-Berranger, Julie Tenenbaum, Jordan Teoli, Marine Tessarech, Benoit Tessoulin, Mylène Tharreau, Christel Thauvin-Robinet, Nathalie Theou-Anton, Julien Thevenon, Anne Thomas, Laure Thomas, Quentin Thomas, Cécile Thomas-Teinturier, Nathalie Tieulie, Julie Tinat, Camille Tlemsani, Sylvie Tondeur, Lucie Tosca, Diego Tosi, David Tougeron, Phlippe Touraine, Elisabeth Tournier-Lasserve, Annick Toutain, Frédéric Tran Mau-Them, Christine Tranchant, Olivier Trédan, Aurélien Trimouille, Jean-Noël Trochu, Vincent Tronel, Cécile Trouba, Marie-Elise Truchetet, Nathalène Truffaux, Amel Tsalamlal, Edouard Turlotte, Violette Turon, Maud Tusseau, Nancy Uhrhammer, Christel Vaché, Stéphanie Valence, Thibaud Valentin, René Valero, Sophie Valleix, Marion Vallet, Hélène Vanacker, Pierre Vande-Perre, Yves Vandenbrouck, Clémence Vanlerberghe, Rosa Vargas-Poussou, Camille Vatier, Vincent Vauchel, Dominique Vaur, Lourdes Velo-Suarez, Laurence Venat, Gabriella Vera, Camille Verebi, Célia Verley, Loïc Verlingue, Christophe Verny, Lauren Veronese, Nelly Verotte, Benjamin Verret, Yoann Vial, Francois Vialard, Alain Viari, Marie Vidailhet, Dominique Vidaud, Michel Vidaud, Stéphane Vignes, Clothilde Vigouroux, Laurent Villard, Laurent Villeneuve, Patricia Villié, Marie-Charlotte Villy, Lara Vinauger, Armelle Vinceneux, Anne Vincenot, Christine Vinciguerra, Antonio Vitobello, Patrick Vourc'h, Aurore Vozy, Marie-Laure Vuillaume-Winter, Sandrine Vuillaumier-Barrot, Karim Wahbi, Cédrick Wallet, Thomas Walter, Ulrike Walther-Louvier, Sarah Watson, Anne-Christine Waymel, Sara Weinhard, Camille Wicker, Marjolaine Willems, Justine Wourms, Antoine Wyrebski, Kévin Yauy, Mohamad Zaidan, Ariane Zaloszyc, Hélène Zattara, Christophe Zawadzki, Alban Ziegler
Lancet Regional Health Europe, 2025 - Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13
Alessandro Bertini, Mary M. Reilly, Chiara Pisciotta, Stefano C. Previtali, Yesim Parman, Esra Battaloglu, Matilde Laurà, Julian Blake, Sabrina Sacconi, Shahram Attarian, Tanya Stojkovic, Mounia Bellatache, Sonia Nouioua, Meriem Tazir, Arman Cakar, Antonio Gambardella, Paola Valentino, Richard A. Lewis, Rita Horvath, Alberto A. Zambon, Mario Sabatelli, Marco Luigetti, Stefano Tozza, Fiore Manganelli, David N. Herrmann, Steven S. Scherer, Nicole Kressin, Kailee Ward, Alessandra Bolino, Michael E. Shy, Davide Pareyson, , and
European Journal of Neurology, 2025 - Facioscapulohumeral Muscular Dystrophy (FSHD)
Sabrina Sacconi
Encyclopedia of the Neurological Sciences, 2025 - SPOON: an observational, cross-sectional study of perceptions and expectations of adults with generalised myasthenia gravis in France
Jean-Philippe Camdessanché, Sabrina Sacconi, Annie Archer, Pierre Boulanger, Anne Crochard, Jean-Philippe Bertocchio, Aliénor Richard, Pierre-Edouard Villy, Guilhem Solé
BMJ Open, 2024 - Typical CIDP, distal variant CIDP, and anti-MAG antibody neuropathy: An ultra-high frequency ultrasound comparison of nerve structure
Angela Puma, Nicolae Grecu, Raluca Ș. Badea, Adeline Morisot, Roxana Zugravu, Mihai B. Ioncea, Michele Cavalli, Oana Lăcătuș, Andra Ezaru, Chorfa Hacina, Luisa Villa, Charles Raffaelli, Nicolas Azulay, Sabrina Sacconi
Scientific Reports, 2024 - Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis
Antonella Notarnicola, Ceke Hellstrom, Begum Horuluoglu, Elisa Pin, Charlotta Preger, Francesco Bonomi, Boel De Paepe, Jan L. De Bleecker, Anneke J. Van der Kooi, Marianne De Visser, Sabrina Sacconi, Pedro Machado, Umesh A. Badrising, Anke Rietveld, Ger Pruijn, Simon Rothwell, James B. Lilleker, Hector Chinoy, Olivier Benveniste, Elisabet Svenungsson, Helena Idborg, Per-Johan Jakobsson, Peter Nilsson, Ingrid E. Lundberg
Journal of Autoimmunity, 2024 - Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas
Orphanet Journal of Rare Diseases, 2024 - Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale
Harmke A. van Kooten, Mike C. Horton, Stephan Wenninger, Haris Babačić, Benedikt Schoser, Claire Lefeuvre, Najib Taouagh, Pascal Laforêt, Sonia Segovia, Jordi Díaz‐Manera, Kristl G. Claeys, Tiziana Mongini, Olimpia Musumeci, Antonio Toscano, Thomas Hundsberger, Esther Brusse, Pieter A. van Doorn, Ans T. van der Ploeg, Nadine A. M. E. van der Beek, and
European Journal of Neurology, 2024 - Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease
Priya S. Kishnani, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz-Manera, Mazen M. Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Noemi Hummel, Agnieszka Kopiec, Fred Holdbrook, Simon Shohet, Antonio Toscano, , Agnes Sebok, Alan Pestronk, Aleksandra Dominovic-Kovacevic, Aneal Khan, Blaž Koritnik, Celine Tard, Christopher Lindberg, Colin Quinn, Crystal Eldridge, Cynthia Bodkin, David Reyes-Leiva, Derralynn Hughes, Ela Stefanescu, Emmanuelle Salort-Campana, Ernest Butler, Francoise Bouhour, Gee Kim, George Konstantinos Papadimas, Giancarlo Parenti, Halina Bartosik-Psujek, Hashiguchi Akihiro, Heather Lau, Helio Pedro, Henning Andersen, Hernan Amartino, Hideaki Shiraishi, Hiroshi Kobayashi, Ivaylo Tarnev, Jaime Vengoechea, Jennifer Avelar, Jin-Hong Shin, Jonathan Cauci, Jorge Alonso-Pérez, Jozsef Janszky, Julie Berthy, Cornelia Kornblum, Kristina Gutschmidt, Maria Judit Molnar, Marie Wencel, Mark Tarnopolsky, Michel Tchan, Miriam Freimer, Nicola Longo, Nuria Vidal-Fernandez, Olimpia Musumeci, Ozlem Goker-Alpan, Patrick Deegan, Paula R Clemens, Richard Roxburgh, Robert Henderson, Robert Hopkin, Sabrina Sacconi, Simona Fecarotta, Shahram Attarian, Stephan Wenninger, Stephanie Dearmey, Tarekegn Hiwot, Thomas Burrow, Tobias Ruck, Tomo Sawada, Vescei Laszlo, Wolfgang Löscher, Yin-Hsiu Chien
Journal of Patient Reported Outcomes, 2024 - Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
Julian Theuriet, Marion Masingue, Anthony Behin, Ana Ferreiro, Guillaume Bassez, Pauline Jaubert, Oriana Tarabay, Frédéric Fer, Antoine Pegat, Françoise Bouhour, Juliette Svahn, Philippe Petiot, Laurentiu Jomir, Guy Chauplannaz, Catherine Cornut-Chauvinc, Véronique Manel, Emmanuelle Salort-Campana, Shahram Attarian, Etienne Fortanier, Annie Verschueren, Ludivine Kouton, Jean-Philippe Camdessanché, Céline Tard, Armelle Magot, Yann Péréon, Jean-Baptiste Noury, Marie-Christine Minot-Myhie, Maud Perie, Frederic Taithe, Yacine Farhat, Anne-Laure Millet, Pascal Cintas, Guilhem Solé, Marco Spinazzi, Florence Esselin, Dimitri Renard, Sabrina Sacconi, Andra Ezaru, Edoardo Malfatti, Martial Mallaret, Laurent Magy, Eva Diab, Philippe Merle, Maud Michaud, Maxime Fournier, Aleksandra Nadaj Pakleza, Jean-Baptiste Chanson, Claire Lefeuvre, Pascal Laforet, Pascale Richard, Damien Sternberg, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Bruno Eymard
Brain, 2024 - Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey
S. Vicart, Y. Péréon, K. Ghorab, A. Pegat, R. Dufresne, A. Zozulya-Weidenfeller, J.-B. Noury, A. Nadaj-Pakleza, C. Tard, S. Sacconi
Revue Neurologique, 2024 - Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry
Emilie Retailleau, Claire Lefeuvre, Marie De Antonio, Françoise Bouhour, Celine Tard, Emmanuelle Salort‐Campana, Emmeline Lagrange, Anthony Béhin, Guilhem Solé, Jean‐Baptiste Noury, Sabrina Sacconi, Armelle Magot, Aleksandra Nadaj Pakleza, David Orlikowski, Stéphane Beltran, Marco Spinazzi, Pascal Cintas, Maxime Fournier, Fatma Bouibede, Hélène Prigent, Guillaume Nicolas, Nadjib Taouagh, Taissir El Guizani, Shahram Attarian, Azzeddine Arrassi, Dalil Hamroun, Pascal Laforêt
European Journal of Neurology, 2024 - French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)
Shahram Attarian, Sadia Beloribi-Djefaflia, Rafaelle Bernard, Karine Nguyen, Claude Cances, Carole Gavazza, Andoni Echaniz-Laguna, Caroline Espil, Teresinha Evangelista, Léonard Feasson, Frédérique Audic, Berenice Zagorda, Virginie Milhe De Bovis, Tanya Stojkovic, Guilhem Sole, Emmanuelle Salort-Campana, Sabrina Sacconi
Journal of Neurology, 2024 - Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
Céline Tard, Françoise Bouhour, Maud Michaud, Stephane Beltran, Maxime Fournier, Florence Demurger, Emmeline Lagrange, Sylvain Nollet, Sabrina Sacconi, Jean‐Baptiste Noury, Armelle Magot, Pascal Cintas, Dimitri Renard, Joëlle Deibener‐Kaminsky, Claire Lefeuvre, Jean‐Baptiste Davion, Emmanuelle Salort‐Campana, Azzeddine Arrassi, Nadjib Taouagh, Marco Spinazzi, Shahram Attarian, Pascal Laforêt, and
European Journal of Neurology, 2024 - Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
Rabi Tawil, Kathryn R Wagner, Johanna I Hamel, Doris G Leung, Jeffrey M Statland, Leo H Wang, Angela Genge, Sabrina Sacconi, Hanns Lochmüller, David Reyes-Leiva, Jordi Diaz-Manera, Jorge Alonso-Perez, Nuria Muelas, Juan J Vilchez, Alan Pestronk, Summer Gibson, Namita A Goyal, Lawrence J Hayward, Nicholas Johnson, Samantha LoRusso, Miriam Freimer, Perry B Shieh, S H Subramony, Baziel van Engelen, Joost Kools, Olof Dahlqvist Leinhard, Per Widholm, Christopher Morabito, Christopher M Moxham, Diego Cadavid, Michelle L Mellion, Adefowope Odueyungbo, William G Tracewell, Anthony Accorsi, Lucienne Ronco, Robert J Gould, Jennifer Shoskes, Luis Alejandro Rojas, John G Jiang
Lancet Neurology, 2024 - Efficacy and safety of rozanolixizumab in patients with muscle-specific tyrosine kinase autoantibody-positive generalised myasthenia gravis: a subgroup analysis of the randomised, double-blind, placebo-controlled, adaptive phase III MycarinG study
Ali A. Habib, Sabrina Sacconi, Giovanni Antonini, Elena Cortés-Vicente, Julian Grosskreutz, Zabeen K. Mahuwala, Renato Mantegazza, Robert M. Pascuzzi, Kimiaki Utsugisawa, John Vissing, Tuan Vu, Heinz Wiendl, Marion Boehnlein, Bernhard Greve, Franz Woltering, Vera Bril
Therapeutic Advances in Neurological Disorders, 2024 - Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study
Guillaume Fargeot, Andoni Echaniz-Laguna, Céline Labeyrie, Juliette Svahn, Jean-Philippe Camdessanché, Pascal Cintas, Jean-Baptiste Chanson, Florence Esselin, Céline Piedvache, Céline Verstuyft, Steeve Genestet, Emmeline Lagrange, Laurent Magy, Yann Péréon, Sabrina Sacconi, Aissatou Signate, Aleksandra Nadaj-Pakleza, Frédéric Taithe, Karine Viala, Céline Tard, Vianney Poinsignon, Cécile Cauquil, Shahram Attarian, David Adams
Amyloid, 2024 - Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis
Maria Sol Jacome Burbano, Jérôme D. Robin, Serge Bauwens, Marjorie Martin, Emma Donati, Lucia Martínez, Peipei Lin, Sabrina Sacconi, Frédérique Magdinier, Eric Gilson
Communications Biology, 2023 - Teleconsultations for mental health: Recommendations from a Delphi panel
Valeria Manera, Claudia Partos, Olivier Beauchet, Michel Benoit, Benjamin Dupetit, Julia Elbaum, Roxane Fabre, Morgane Gindt, Auriane Gros, Rachid Guerchouche, Stefan Klöppel, Alexandra König, Annick Martin, Aurélie Mouton, Marie-Pierre Pancrazi, Antonios Politis, Gabriel Robert, Guillaume Sacco, Sabrina Sacconi, Kim Sawchuk, Fabio Solari, Lucille Thiebot, Pietro Davide Trimarchi, Radia Zeghari, Philippe Robert
Internet Interventions, 2023 - Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, and
Orphanet Journal of Rare Diseases, 2023 - Current clinical management of CIDP with immunoglobulins in France: An expert opinion
P. Cintas, F. Bouhour, C. Cauquil, M. Masingue, C. Tard, S. Sacconi, E. Delmont, A. Choumert, J.-B. Chanson, M. Michaud, G. Solé, J. Cassereau, J.-B. Noury, G. Nicolas, R. Bellance, Y. Péréon, J.-P. Camdessanché, L. Magy, S. Attarian
Revue Neurologique, 2023 - Hyaluronidase-facilitated subcutaneous immunoglobulin 10% as maintenance therapy for chronic inflammatory demyelinating polyradiculoneuropathy: The ADVANCE-CIDP 1 randomized controlled trial
Vera Bril, Robert D. M. Hadden, Thomas H. Brannagan, Michal Bar, Elisabeth Chroni, Konrad Rejdak, Alberto Rivero, Henning Andersen, Norman Latov, Todd Levine, Mamatha Pasnoor, Sabrina Sacconi, Nizar Souayah, Colin Anderson‐Smits, Kim Duff, Erin Greco, Shabbir Hasan, Zhaoyang Li, Leman Yel, Hakan Ay
Journal of the Peripheral Nervous System, 2023 - Characteristics of Patients with Late-Onset Pompe Disease in France: Insights from the French Pompe Registry in 2022
Claire Lefeuvre, Marie De Antonio, Francoise Bouhour, Celine Tard, Emmanuelle Salort-Campana, Emmeline Lagrange, Anthony Behin, Guilhem Sole, Jean-Baptiste Noury, Sabrina Sacconi, Armelle Magot, Aleksandra Nadaj-Pakleza, Arnaud Lacour, Stephane Beltran, Marco Spinazzi, Pascal Cintas, Dimitri Renard, Maud Michaud, Anne-Laure Bedat-Millet, Helene Prigent, Nadjib Taouagh, Azzeddine Arrassi, Dalil Hamroun, Shahram Attarian, Pascal Laforêt, and
Neurology, 2023 - Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry
Lola E.R. Lessard, Céline Tard, Emmanuelle Salort-Campana, Sabrina Sacconi, Anthony Béhin, Guillaume Bassez, David Orlikowski, Philippe Merle, Sylvain Nollet, Laure Gallay, Frédéric Bérard, Philip Robinson, Françoise Bouhour, Pascal Laforêt
Molecular Genetics and Metabolism, 2023 - Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study
Vera Bril, Artur Drużdż, Julian Grosskreutz, Ali A Habib, Renato Mantegazza, Sabrina Sacconi, Kimiaki Utsugisawa, John Vissing, Tuan Vu, Marion Boehnlein, Ali Bozorg, Maryam Gayfieva, Bernhard Greve, Franz Woltering, Henry J Kaminski, Angela Genge, Rami Massie, Maxime Berube, Vera Bril, Lubna Daniyal, Shabber Mannan, Eduardo Ng, Ritesh Rohan Raghu Raman, Evelyn Sarpong, Monica Alcantara, Annie Dionne, Zaeem Siddiqi, Derrick Blackmore, Faraz Hussain, Genevieve Matte, Stephan Botez, Michaela Tyblova, Michala Jakubikova, Jana Junkerova, John Vissing, Nanna Witting, Sonja Holm-Yildiz, Mads Stemmerik, Henning Andersen, Izabella Obál, Guilhem Solé, Stéphane Mathis, Marie-Hélène Violleau, Christine Tranchant, Sihame Messai, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Arnaud Verloes, Leila Zaidi, Sabrina Sacconi, Manuela Gambella, Michele Cavalli, Tanya Stojkovic, Sophie Demeret, Loic Le Guennec, Giorgia Querin, Nicolas Weiss, Marion Masingue, Laurent Magy, Karima Ghorab, Ia Rukhadze, Alexander Tsiskaridze, Marina Janelidze, Temur Margania, Florian Then Bergh, Eike Hänsel, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Lars-Malte Teußer, Astrid Unterlauft, Clemens Goedel, Tim Hagenacker, Andreas Totzeck, Benjamin Stolte, Franz Blaes, Christine Bindler, Vasilios Tsoutsikas, Annekathrin Roediger, Christian Geis, Jens Schmidt, Jana Zschüntzsch, Margret Schwarz, Stefanie Meyer, Karsten Kummer, Stefanie Glaubitz, Rachel Zeng, Heinz Wiendl, Luisa Klotz, Anna Lammerskitten, Jan Lünemann, Péter Diószeghy, Renato Mantegazza, Lorenzo Maggi, Elena Rinaldi, Matteo Gastaldi, Federico Mazzacane, Pietro Businaro, Raffaele Iorio, Giovanni Antonini, Laura Fionda, Rita Rinaldi, Simone Rossi, Francesco Habetswallner, Francesco Tuccillo, Haruna Umehara, Eiko Uenaka, Masanori Takahashi, Keiko Higashi, Makoto Kinoshita, Emika Yoneda, Noriko Nakamura, Saeka Fujita, Tomoya Kubota, Masami Ono, Sana Yamamoto, Taku Hatano, Kazuki Oikoshi, Kazumasa Yokoyama, Yutaka Oji, Yuji Tomizawa, Akiyuki Uzawa, Manato Yasuda, Sachiko Akita, Yukiko Ozawa, Yosuke Onishi, Miki Takaki, Hiromi Yamada, Kanako Minemoto, Miki Sanko, Nanae Izawa, Mayumi Nakayama, Masayuki Masuda, Rune Tsuji, Nobuhiro Ido, Yumi Hyodo, Yoshihiko Okubo, Akiko Minohara, Nana Haraguchi, Makiko Naito, Seiko Yoshida, Yuri Fukushige, Akira Tsujino, Atsushi Nagaoka, Teiichiro Miyazaki, Shunsuke Yoshimura, Takuro Hirayama, Tomoaki Shima, Naoko Okamoto, Riki Matsumoto, Kenji Sekiguchi, Takehiro Ueda, Norio Chihara, Mari Kirimura, Emi Sunagawa, Ayaka Suzuki, Shigeaki Suzuki, Aozora Wada, Kei Ishizuchi, Yasushi Suzuki, Mitsuo Yata, Yuka Komatsu, Kenichi Tsukita, Genya Watanabe, Kazuki Sato, Emiko Kawasaki, Naoki Yamamoto, Hirohiko Ono, Tomoko Tsuda, Shigeki Ohashi, Kimiaki Utsugisawa, Yuka Fujisawa, Yumiko Yokota, Yuriko Nagane, Kameda Ayumi, Yuka Takematsu, Hiroyuki Naito, Kumiko Kuwada, Konrad Rejdak, Sebastian Szklener, Monika Kitowska, Kandyda Derkacz, Artur Drużdż, Tomasz Berkowicz, Paulina Budzinska, Marek Halas, Leonid Zaslavskiy, Evgeniya Skornyakova, Sergey Kotov, Ekaterina Novikova, Olga Sidorova, Vitalii Goldobin, Tatiana Alekseeva, Patimat Isabekova, Nadezhda Malkova, Denis Korobko, Gordana Djordjevic, Aleksandar Stojanov, Stojan Peric, Dragana Lavrnic, Ivo Bozovic, Aleksa Palibrk, Carlos Casasnovas, Velina Nedkova-Hristova, Nuria Vidal Fernández, Elena Cortés Vicente, Luis Querol Gutiérrez, Maria Salvadó Figueras, Anna Canovas Segura, Raúl Juntas Morales, Daniel Sanchez Tejerina, Albert Saiz, Yolanda Blanco Morgado, Sara Llufriú Durán, María Sepúlveda Gázquez, Eugenia María Martínez Hernández, Gerardo Gutiérrez Gutiérrez, Paqui Iniesta, José Meca Lallana, Yuh-Cherng Guo, Hou-Chang Chiu, Jiann-Horng Yeh, Ya Hui Chen, Mei Fen Lee, Yi-Chung Lee, Kuan Lin Lai, Said Beydoun, Salma Akhter, Tuan Vu, Lucy Lam, Alisha Thomas, Michael Rivner, Brandy Quarles, Dale Lange, Shara Holzberg, Pantelis Pavlakis, Ashwathy Goutham, Henry Kaminski, Radwa Aly, Lisa Ashworth, Kathryn Bender, Karie Bond, Joanne Buckner, Sara Byerly, James Caress, Jessyca Clemons, Asha Farmer, Catherine Franklin, Summer Harris, Meredith Hiatt, Rachana Gandhi Mehta, Gina Miller, Lynn Smith, Rose Smith, Brian Strittmatter, Tahseen Mozaffar, Ali A Habib, Isela Hernandez, Kelsey Moulton, Chafic Karam, Pranali Ravikumar, Catherine Lomen-Hoerth, Laura Rosow, Hannah George, Viktoriya Irodenko, Carol Denny, Bart Hanson, Sara Klein, Jennifer Martinez-Thompson, Elie Naddaf, Denny Padgett, Eric Sorenson, Jane L Sultze, Delena Weis, Kourosh Rezania, Jason Thonhoff, Sheetal Shroff, Robert Pascuzzi, Angela Micheels, Cynthia Bodkin, Adam Comer, Gelasio Baras, Renee Wagner, Zabeen Mahuwala, Stephen Ryan, Kai Su, Khema Sharma, Andrew Brown, Kore Liow
Lancet Neurology, 2023 - Reply to the Letter to the Editor in response to “Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal”
Andreas Meisel, Fulvio Baggi, Anthony Behin, Amelia Evoli, Anna Kostera‐Pruszczyk, Renato Mantegazza, Raul Juntas Morales, Anna Rostedt Punga, Sabrina Sacconi, Michael Schroeter, Jan Verschuuren, Louise Crathorne, Kris Holmes, Maria‐Isabel Leite
European Journal of Neurology, 2023 - The effect of tibialis anterior weakness on foot drop and toe clearance in patients with facioscapulohumeral dystrophy
C.N. Gambelli, J. Bredin, A.-C.M. Doix, J. Garcia, V. Tanant, M. Fournier-Mehouas, C. Desnuelle, S. Sacconi, S.S. Colson
Clinical Biomechanics, 2023 - Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal
Andreas Meisel, Fulvio Baggi, Anthony Behin, Amelia Evoli, Anna Kostera‐Pruszczyk, Renato Mantegazza, Raul Juntas Morales, Anna Rostedt Punga, Sabrina Sacconi, Michael Schroeter, Jan Verschuuren, Louise Crathorne, Kris Holmes, Maria‐Isabel Leite
European Journal of Neurology, 2023 - Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
Lynda El-Hassar, Ahmed Amara, Benoit Sanson, Oana Lacatus, Ahmed Amir Belhouchet, Madelon Kroneman, Kristl Claeys, Jean Philippe Plançon, Carmelo Rodolico, Guido Primiano, Francesca Trojsi, Massimiliano Filosto, Tiziana Enrica Mongini, Sara Bortolani, Mauro Monforte, Elena Carraro, Lorenzo Maggi, Federica Ricci, Vincenzo Silani, Daniele Orsucci, Alain Créange, Yann Péréon, Tanya Stojkovic, Nadine Anna Maria Elisabeth van der Beek, Antonio Toscano, Davide Pareyson, Shahram Attarian, Peter Y.K. Van den Bergh, Gauthier Remiche, Janneke G.J. Hoeijmakers, Umesh Badrising, Nicol C. Voermans, Angela M. Kaindl, Ulrike Schara-Schmidt, Benedikt Schoser, Elisabetta Gazzerro, Jana Haberlová, Stanislav Voháňka, Endre Pál, Maria Judit Molnar, Lea Leonardis, Ivailo L Tournev, Andrés Nascimento Osorio, Montse Olivé, Nuria Muelas, Jorge Alonso-Perez, Francesc Plá, Marianne de Visser, Gabriele Siciliano, Sabrina Sacconi
Journal of Neuromuscular Diseases, 2023 - Meeting report: the 2021 FSHD International Research Congress
Sujatha Jagannathan, Jessica C. de Greef, Lawrence J. Hayward, Kyoko Yokomori, Davide Gabellini, Karlien Mul, Sabrina Sacconi, Jamshid Arjomand, June Kinoshita, Scott Q. Harper
Skeletal Muscle, 2022 - Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, Blandine Acket, Jean-Christophe Antoine, Shahram Attarian, Guillaume Bassez, Anne-Laure Bédat-Millet, Anthony Béhin, Rémi Bellance, Michela Bisciglia, Véronique Bombart, Rosalie Boitet, Pascale Bonnet, Françoise Bouhour, Célia Boutte, Brigitte Chabrol, Jean-Baptiste Chanson, Françoise Chapon, Ariane Choumert, Pauline Coignard, Jean-Yves Cornu, Benoît Daubail, Elisa De La Cruz, Léa Declerck, Capucine Delattre, Florence Demurger, Véronique Dulieu, Aurélie Duruflé, Fanny Duval, Florence Esselin, Teresinha Evangelista, Bruno Eymard, Anthony Faivre, Léonard Féasson, Xavier Ferrer, François Feuvrier, Olivier Flabeau, Mélanie Fradin, Alain Furby, Jérémy Garcia, Hélène Gervais-Bernard, Teresa Gidaro, Karima Ghorab, Marc Jeanpierre, Hubert Journel, Arnaud Lacour, Pascal Laforêt, Emmeline Lagrange, Valérie Layet, Gérard Leclaire, Jean-Luc Le Guiet, Gwenaël Le Guyader, François Leroy, France Leturcq, Nicolas Lévy, Sarah Léonard-Louis, Laurent Magy, Edoardo Malfatti, Marion Masingue, Gilles Mazaltarine, Dominique Ménard, Maud Michaud, Marie-Christine Minot-Myhié, Marie-Doriane Morard, Juliette Nectoux, Karine Nguyen, Julie Nicomette, Jean-Baptiste Noury, Sybille Pellieux, Laetitia Percebois-Macadré, Yann Péréon, Solange Perrin-Callot, Philippe Petiot, Sylviane Peudenier, Bénédicte Pontier, Florence Portet, Jean Pouget, Marguerite Preudhomme, Hélène Rauscent, Dimitri Renard, Audrey Riou, François Rivier, Emmanuelle Salort-Campana, Stéphane Schaeffer, Jean-Philippe Simon, Aurélie Siri, Marco Spinazzi, Tanya Stokovic, Juliette Svahn, François Tabaraud, Frédéric Taithe, Céline Tard, Christel Thauvin, Philippe Thoumie, Claire-Lise Tournier-Gervason, Christine Tranchant, Jon Andoni Urtizberea, Christophe Vial, Michel Vidaud, Fabien Zagnoli, and
Orphanet Journal of Rare Diseases, 2022 - The European Lambert–Eaton Myasthenic Syndrome Registry: Long-Term Outcomes Following Symptomatic Treatment
Andreas Meisel, Jörn P. Sieb, Gwendal Le Masson, Ville Postila, Sabrina Sacconi
Neurology and Therapy, 2022 - Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease
Mazen M. Dimachkie, Richard J. Barohn, Barry Byrne, Ozlem Goker-Alpan, Priya S. Kishnani, Shafeeq Ladha, Pascal Laforêt, Karl Eugen Mengel, Loren D.M. Peña, Sabrina Sacconi, Volker Straub, Jaya Trivedi, Philip Van Damme, Ans T. van der Ploeg, John Vissing, Peter Young, Kristina An Haack, Meredith Foster, Jane M. Gilbert, Patrick Miossec, Olivier Vitse, Tianyue Zhou, Benedikt Schoser, and
Neurology, 2022 - Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome
Rocio Nur Villar‐Quiles, Damien Sternberg, Grégoire Tredez, Norma Beatriz Romero, Teresinha Evangelista, Pascal Lafôret, Pascal Cintas, Guilhem Sole, Sabrina Sacconi, Said Bendahhou, Jérôme Franques, Claude Cances, JB Noury, Emilien Delmont, Patricia Blondy, Laurence Perrin, Marianne Hezode, Emmanuel Fournier, Bertrand Fontaine, Tanya Stojkovic, Savine Vicart
European Journal of Neurology, 2022 - Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic
Céline Tard, Emmanuelle Salort‐Campana, Maud Michaud, Marco Spinazzi, Aleksandra Nadaj Pakleza, Hélène Durr, Françoise Bouhour, Claire Lefeuvre, Romain Thomas, Azzeddine Arrassi, Nadjib Taouagh, Guilhem Solé, Pascal Laforêt, Laforêt P, Orlikowski D, Bassez G, Germain D, Noury JB, Zagnoli F, Tard C, Davion JB, Salort‐Campana E, Verschueren A, Sacconi S, Furby A, Lacour A, Praline J, Sole G, Renard D, Bouibede F, Fournier M, Chapon F, Minot MC, Spinazzi M, Hubert J, Demurger F, Magot A, Cintas P, Nadaj‐Pakleza A, Bouhour F, Morales RJ, Esselin F, Petiot P, Jaussaud R, Pichard S, Brassier A, Do‐Cao J, Feillet F, Touati G, Echaniz‐Laguna YA, Magy L, Michaud M, Lagrange E, Krim E, Taithe F, Bedat‐Millet AL, Nollet S, Walter‐Louvier U, Chabrol B, Tardieu M, and
European Journal of Neurology, 2022 - The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation
Denis Vecellio Reane, Cristina Cerqua, Sabrina Sacconi, Leonardo Salviati, Eva Trevisson, Anna Raffaello
International Journal of Molecular Sciences, 2022 - High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
Richard J L F Lemmers, Patrick J van der Vliet, David San Leon Granado, Nienke van der Stoep, Henk Buermans, Robin van Schendel, Joost Schimmel, Marianne de Visser, Rudy van Coster, Marc Jeanpierre, Pascal Laforet, Meena Upadhyaya, Baziel van Engelen, Sabrina Sacconi, Rabi Tawil, Nicol C Voermans, Mark Rogers, Silvère M van der Maarel
Human Molecular Genetics, 2022 - Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy
Journal of Neuromuscular Diseases, 2022 - A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Acta Neuropathologica Communications, 2021 - Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
Benedikt Schoser, Mark Roberts, Barry J Byrne, Sheela Sitaraman, Hai Jiang, Pascal Laforêt, Antonio Toscano, Jeff Castelli, Jordi Díaz-Manera, Mitchell Goldman, Ans T van der Ploeg, Drago Bratkovic, Srilakshmi Kuchipudi, Tahseen Mozaffar, Priya S Kishnani, Agnes Sebok, Alan Pestronk, Aleksandra Dominovic-Kovacevic, Aneal Khan, Blaž Koritnik, Celine Tard, Christopher Lindberg, Colin Quinn, Crystal Eldridge, Cynthia Bodkin, David Reyes-Leiva, Derralynn Hughes, Ela Stefanescu, Emmanuelle SALORT-CAMPANA, Ernest Butler, Francoise Bouhour, Gee Kim, George Konstantinos Papadimas, Giancarlo Parenti, Halina Bartosik-Psujek, Hani Kushlaf, Hashiguchi Akihiro, Heather Lau, Helio Pedro, Henning Andersen, Hernan Amartino, Hideaki Shiraishi, Hiroshi Kobayashi, Ivaylo Tarnev, Jaime Vengoechea, Jennifer Avelar, Jin-Hong Shin, Jonathan Cauci, Jorge Alonso-Pérez, Jozsef Janszky, Julie Berthy, Kornblum Cornelia, Kristina Gutschmidt, Kristl Claeys, Maria Judit Molnar, Marie Wencel, Mark Tarnopolsky, Mazen Dimachkie, Michel Tchan, Miriam Freimer, Nicola Longo, Nuria Vidal-Fernandez, Olimpia Musumeci, Ozlem Goker-Alpan, Patrick Deegan, Paula R. Clemens, Richard Roxburgh, Robert Henderson, Robert Hopkin, Sabrina Sacconi, Simona Fecarotta, Shahram Attarian, Stephan Wenninger, Stephanie Dearmey, Tarekegn Hiwot, Thomas Burrow, Tobias Ruck, Tomo Sawada, Vescei Laszlo, Wolfgang Löscher, Yin-Hsiu Chien
Lancet Neurology, 2021 - Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study
Savine Vicart, Jérôme Franques, Françoise Bouhour, Armelle Magot, Yann Péréon, Sabrina Sacconi, Aleksandra Nadaj-Pakleza, Anthony Behin, Noël Zahr, Marianne Hézode, Emmanuel Fournier, Christine Payan, Lucette Lacomblez, Bertrand Fontaine
Neuromuscular Disorders, 2021 - Genotype–phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy
Marie Subréville, Nathalie Bonello‐Palot, Douniazed Yahiaoui, Sadia Beloribi‐Djefaflia, Sara Fernandes, Tanya Stojkovic, Julien Cassereau, Yann Péréon, Andoni Echaniz‐Laguna, Marie‐Hélène Violleau, Antoine Soulages, Sarah Léonard Louis, Marion Masingue, Armelle Magot, Emilien Delmont, Sabrina Sacconi, David Adams, Céline Labeyrie, Steeve Genestet, Jean‐Baptiste Noury, Jean‐Baptiste Chanson, Nicolas Lévy, Raul Juntas‐Morales, Céline Tard, Guilhem Sole, Shahram Attarian
European Journal of Neurology, 2021 - A case of ASAH1-related pure SMA evolving into adult-onset Farber disease
Angela Puma, Andra Ezaru, Michele Cavalli, Luisa Villa, Federico Torre, Valérie Biancalana, Thierry Levade, Nicolae Grecu, Sabrina Sacconi
Clinical Genetics, 2021 - The facioscapulohumeral muscular dystrophy Rasch-built overall disability scale (FSHD-RODS)
Karlien Mul, Tatiana Hamadeh, Corinne G. C. Horlings, Rabi Tawil, Jeffrey M. Statland, Sabrina Sacconi, Alastair J. Corbett, Nicol C. Voermans, Catharina G. Faber, Baziel G. M. Engelen, Ingemar S. J. Merkies
European Journal of Neurology, 2021 - Motor axonal neuropathy associated with GNE mutations
Nicolae Grecu, Luisa Villa, Michele Cavalli, Antoine Ristaino, Ariane Choumert, Catherine Butori, Leonardo Salviati, Angela Puma, Martin Krahn, Mathieu Cerino, Sabrina Sacconi
Muscle and Nerve, 2021 - Ultra–high-frequency ultrasound imaging of sural nerve: A comparative study with nerve biopsy in progressive neuropathies
Angela Puma, Nicolae Grecu, Luisa Villa, Catherine Butori, Thomas Besson, Chiara Cambieri, Michele Cavalli, Nicolas Azulay, Sabrina Sacconi, Charles Raffaelli
Muscle and Nerve, 2021 - E-Health Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019
Jonathan Pini, Gabriele Siciliano, Pauline Lahaut, Serge Braun, Sandrine Segovia-Kueny, Anna Kole, Ines Hérnando, Julij Selb, Erika Schirinzi, Tina Duong, Jean-Yves Hogrel, José Javier Serrano Olmedo, John Vissing, Laurent Servais, Dominique Vincent-Genod, Carole Vuillerot, Sylvie Bannwarth, Damien Eggenspieler, Savine Vicart, Jordi Diaz-Manera, Hanns Lochmüller, Sabrina Sacconi, and
Journal of Neuromuscular Diseases, 2021 - Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
G. Giacomucci, M. Monforte, J. Diaz‐Manera, K. Mul, R. Fernandez Torrón, L. Maggi, C. Marini Bettolo, J. R. Dahlqvist, J. Haberlova, P. Camaño, M. Gros, T. Tartaglione, L. Cristiano, S. Gerevini, P. Calandra, G. Deidda, E. Giardina, S. Sacconi, V. Straub, J. Vissing, B. Van Engelen, E. Ricci, G. Tasca
European Journal of Neurology, 2020 - Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano, John Vissing, Matthias Vorgerd, Andrew Wakelin, Ramon Martí, Antoni L. Andreu, Ramon Martí, Tomàs Pinós, Noemi Baruch, Francisco J. Ortega, Miguel A. Martín, Carmen Navarro, Beatriz San-Millán, Irene Vieitez, Andrea Martinuzzi, Marinela Vavla, Claudio Bruno, Antonio Toscano, Olimpia Musumeci, Pascal Laforêt, Sabrina Sacconi, Ros Quinlivan, Renata Scalco, Andrew Wakelin, Georgios Hadjgeorgiou, Elias Zintzaras, John Vissing, Matthias Vorgerd, Enrico Zülow, Ronald Haller, Piraye Oflazer, Hacer Durmus, Jean Pouget, Alejandro Lucía, Alfredo Santalla, and
Orphanet Journal of Rare Diseases, 2020 - Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Renata S. Scalco, , Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Nicol C. Voermans, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San-Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebeca Trost, Sabrina Sacconi, Mads G. Stemmerik, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing
Orphanet Journal of Rare Diseases, 2020 - Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry
Claudio Semplicini, Marie De Antonio, Nadjib Taouagh, Anthony Béhin, Françoise Bouhour, Andoni Echaniz‐Laguna, Armelle Magot, Aleksandra Nadaj‐Pakleza, David Orlikowski, Sabrina Sacconi, Emmanuelle Salort‐Campana, Guilhem Solé, Céline Tard, Fabien Zagnoli, Jean‐Yves Hogrel, Dalil Hamroun, Pascal Laforêt, and
Journal of Inherited Metabolic Disease, 2020 - Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6
Anke Rietveld, Judith van Gaalen, Christiaan Saris, Kees Okkersen, Benno Küsters, Bart van de Warrenburg, Baziel van Engelen, Sabrina Sacconi, Joost Raaphorst
Journal of Neurology Neurosurgery and Psychiatry, 2020 - Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
Elamine Zereg, Annabelle Chaussenot, Godelieve Morel, Sylvie Bannwarth, Sabrina Sacconi, Marie‐Hélène Soriani, Shahram Attarian, Aline Cano, Jean Pouget, Rémi Bellance, Christine Tranchant, Béatrice Lannes, André Maues Paula, Samira Saadi Ait‐El‐Mkadem, Bernadette Chafino, Mathieu Berthet, Konstantina Fragaki, Véronique Paquis‐Flucklinger, Cécile Rouzier
Human Mutation, 2020 - Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences
Pascal Boileau, Alexis Pison, Adam Wilson, Olivier van der Meijden, Sabrina Sacconi, Christophe Trojani, Marc-Olivier Gauci
Journal of Shoulder and Elbow Surgery, 2020 - Type 1 FSHD with 6–10 repeated units: Factors underlying severity in index cases and disease penetrance in their relatives attention
Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier, Shahram Attarian
International Journal of Molecular Sciences, 2020 - Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime
Jérôme D. Robin, Maria‐Sol Jacome Burbano, Han Peng, Olivier Croce, Jean Luc Thomas, Camille Laberthonniere, Valerie Renault, Liudmyla Lototska, Mélanie Pousse, Florent Tessier, Serge Bauwens, Waiian Leong, Sabrina Sacconi, Laurent Schaeffer, Frédérique Magdinier, Jing Ye, Eric Gilson
Aging Cell, 2020 - Diagnostic challenges in metabolic myopathies
Corrado Angelini, Roberta Marozzo, Valentina Pegoraro, Sabrina Sacconi
Expert Review of Neurotherapeutics, 2020 - Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
N. C. Voermans, R. C. van der Bilt, J. IJspeert, J. Y. Hogrel, M. Jeanpierre, A. Behin, P. Laforet, T. Stojkovic, B. G. van Engelen, G. W. Padberg, S. Sacconi, R. J. L. F. Lemmers, S. M. van der Maarel, B. Eymard, G. Bassez
Journal of Neurology, 2019 - Intronic SMCHD1 variants in FSHD: Testing the potential for CRISPR-Cas9 genome editing
Remko Goossens, Marlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, Patrick J van der Vliet, Iris M Willemsen, Julie Schouten, Ignazio Maggio, Nienke van der Stoep, Rob C Hoeben, Stephen J Tapscott, Niels Geijsen, Manuel A F V Gonçalves, Sabrina Sacconi, Rabi Tawil, Silvère M van der Maarel
Journal of Medical Genetics, 2019 - Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti
Acta Neuropathologica Communications, 2019 - SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Richard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, Steven A Moore, David San Leon Granado, Katherine Johnson, Ana Topf, Volker Straub, Teresinha Evangelista, Tahseen Mozaffar, Virginia Kimonis, Natalie D Shaw, Rita Selvatici, Alessandra Ferlini, Nicol Voermans, Baziel van Engelen, Sabrina Sacconi, Rabi Tawil, Meindert Lamers, Silvère M van der Maarel
Journal of Medical Genetics, 2019 - Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): Protocol of a large, international, multi-center prospective study
on behalf of the ReSolve Investigators, the FSHD CTRN18, Samantha LoRusso, Nicholas E. Johnson, Michael P. McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A. Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M. Statland, Rabi Tawil
BMC Neurology, 2019 - Comparison of high-frequency and ultrahigh-frequency probes in chronic inflammatory demyelinating polyneuropathy
Angela Puma, N. Azulay, N. Grecu, C. Suply, E. Panicucci, C. Cambieri, L. Villa, C. Raffaelli, S. Sacconi
Journal of Neurology, 2019 - Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
Karine Nguyen, Natacha Broucqsault, Charlene Chaix, Stephane Roche, Jérôme D Robin, Catherine Vovan, Laurene Gerard, André Mégarbané, Jon Andoni Urtizberea, Remi Bellance, Christine Barnérias, Albert David, Bruno Eymard, Melanie Fradin, Véronique Manel, Sabrina Sacconi, Vincent Tiffreau, Fabien Zagnoli, Jean-Marie Cuisset, Emmanuelle Salort-Campana, Shahram Attarian, Rafaëlle Bernard, Nicolas Lévy, Frederique Magdinier
Journal of Medical Genetics, 2019 - A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
Davide Pareyson, Tanya Stojkovic, Mary M. Reilly, Sarah Leonard‐Louis, Matilde Laurà, Julian Blake, Yesim Parman, Esra Battaloglu, Meriem Tazir, Mounia Bellatache, Nathalie Bonello‐Palot, Nicolas Lévy, Sabrina Sacconi, Raquel Guimarães‐Costa, Sharham Attarian, Philippe Latour, Guilhem Solé, André Megarbane, Rita Horvath, Giulia Ricci, Byung‐Ok Choi, Angelo Schenone, Chiara Gemelli, Alessandro Geroldi, Mario Sabatelli, Marco Luigetti, Lucio Santoro, Fiore Manganelli, Aldo Quattrone, Paola Valentino, Tatsufumi Murakami, Steven S. Scherer, Lois Dankwa, Michael E. Shy, Chelsea J. Bacon, David N. Herrmann, Alberto Zambon, Irene Tramacere, Chiara Pisciotta, Stefania Magri, Stefano C. Previtali, Alessandra Bolino
Annals of Neurology, 2019 - The DM-scope registry: A rare disease innovative framework bridging the gap between research and medical care
the Filnemus Myotonic Dystrophy Study Group, Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, Dalil Hamroun, Guillaume Bassez
Orphanet Journal of Rare Diseases, 2019 - FSHD1 and FSHD2 form a disease continuum
Sabrina Sacconi, Audrey Briand-Suleau, Marilyn Gros, Christian Baudoin, Richard J.L.F. Lemmers, Sophie Rondeau, Nadira Lagha, Pilvi Nigumann, Chiara Cambieri, Angela Puma, Françoise Chapon, Tanya Stojkovic, Christophe Vial, Françoise Bouhour, Michelangelo Cao, Elena Pegoraro, Philippe Petiot, Anthony Behin, Bras Marc, Bruno Eymard, Andoni Echaniz-Laguna, Pascal Laforet, Leonardo Salviati, Marc Jeanpierre, Gaël Cristofari, Silvère M. van der Maarel
Neurology, 2019 - Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy
Christopher R S Banerji, Maryna Panamarova, Johanna Pruller, Nicolas Figeac, Husam Hebaishi, Efthymios Fidanis, Alka Saxena, Julian Contet, Sabrina Sacconi, Simone Severini, Peter S Zammit
Human Molecular Genetics, 2019 - E-Health and therapeutic innovation
Sabrina Sacconi, Judith Mehl, Claire Lenain, Frédéric Lofaso, Jessica Taytard
Medecine Sciences M S, 2019 - Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Johanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, Marco Savarese, Sini Penttilä, Anna-Lena Semmler, Wolfram Kress, Tahseen Mozaffar, Tim Lai, Tanya Stojkovic, Andres Berardo, Ricardo Reisin, Shahram Attarian, Andoni Urtizberea, Ana Maria Cobo, Lorenzo Maggi, Sergei Kurbatov, Sergei Nikitin, José C. Milisenda, Farzad Fatehi, Monika Raimondi, Fernando Silveira, Peter Hackman, Kristl G. Claeys, Bjarne Udd
Journal of Neurology, 2019 - Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease
Anastasia Godefroy, Morgane Daurat, Afitz Da Silva, Ilaria Basile, Khaled El Cheikh, Catherine Caillaud, Sabrina Sacconi, Benedikt Schoser, Henry‐Vincent Charbonné, Magali Gary‐Bobo, Alain Morère, Marcel Garcia, Marie Maynadier
Journal of Cellular and Molecular Medicine, 2019 - The French National Registry of patients with Facioscapulohumeral muscular dystrophy
Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud
Orphanet Journal of Rare Diseases, 2018 - Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
Claudio Semplicini, Pascaline Letard, Marie De Antonio, Nadjib Taouagh, Barbara Perniconi, Françoise Bouhour, Andoni Echaniz‐Laguna, David Orlikowski, Sabrina Sacconi, Emmanuelle Salort‐Campana, Guilhem Solé, Fabien Zagnoli, Dalil Hamroun, Roseline Froissart, Catherine Caillaud, Pascal Laforêt, French Pompe Study Group
Journal of Inherited Metabolic Disease, 2018 - Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Richard J L F Lemmers, Patrick J van der Vliet, Jeroen P Vreijling, Don Henderson, Nienke van der Stoep, Nicol Voermans, Baziel van Engelen, Frank Baas, Sabrina Sacconi, Rabi Tawil, Silvère M van der Maarel
Human Molecular Genetics, 2018 - New variant of necklace fibres display peculiar lysosomal structures and mitophagy
Jan Leo Rinnenthal, Carsten Dittmayer, Kerstin Irlbacher, Irene Wacker, Rasmus Schröder, Hans-Hilmar Goebel, Catherine Butori, Luisa Villa, Sabrina Sacconi, Werner Stenzel
Neuromuscular Disorders, 2018 - FSHD type 2 and Bosma arhinia microphthalmia syndrome
Karlien Mul, Richard J.L.F. Lemmers, Marjolein Kriek, Patrick J. van der Vliet, Marlinde L. van den Boogaard, Umesh A. Badrising, John M. Graham, Angela E. Lin, Harrison Brand, Steven A. Moore, Katherine Johnson, Teresinha Evangelista, Ana Töpf, Volker Straub, Solange Kapetanovic García, Sabrina Sacconi, Rabi Tawil, Stephen J. Tapscott, Nicol C. Voermans, Baziel G.M. van Engelen, Corinne G.C. Horlings, Natalie D. Shaw, Silvère M. van der Maarel
Neurology, 2018 - Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
Dimitri Renard, Guillaume Taieb, Matteo Garibaldi, Andre Maues De Paula, Rafaelle Bernard, Nadira Lagha, Gael Cristofari, Catherine Vovan, Charlène Chaix, Nicolas Lévy, Philippe Khau Van Kien, Sabrina Sacconi
American Journal of Medical Genetics Part A, 2018 - Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: A case report
Angela Puma, Jeanne Benoit, Sabrina Sacconi, Antonino Uncini
BMC Neurology, 2018 - Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Judit Balog, Remko Goossens, Richard J L F Lemmers, Kirsten R Straasheijm, Patrick J van der Vliet, Anita van den Heuvel, Chiara Cambieri, Nicolas Capet, Léonard Feasson, Veronique Manel, Julian Contet, Marjolein Kriek, Colleen M Donlin-Smith, Claudia A L Ruivenkamp, Patricia Heard, Stephen J Tapscott, Jannine D Cody, Rabi Tawil, Sabrina Sacconi, Silvère M van der Maarel
Journal of Medical Genetics, 2018 - COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2
Cristina Cerqua, Valeria Morbidoni, Maria Andrea Desbats, Mara Doimo, Chiara Frasson, Sabrina Sacconi, Maria Cristina Baldoin, Geppo Sartori, Giuseppe Basso, Leonardo Salviati, Eva Trevisson
Biochimica Et Biophysica Acta Bioenergetics, 2018 - Corticosteroids in Duchenne muscular dystrophy: impact on the motor function measure sensitivity to change and implications for clinical trials
Audrey Schreiber, Sylvain Brochard, Pascal Rippert, Stephanie Fontaine‐Carbonnel, Christine Payan, Isabelle Poirot, Dalil Hamroun, Carole Vuillerot, MFM DMD Corticosteroids Group
Developmental Medicine and Child Neurology, 2018 - Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
Richard JLF Lemmers, Patrick J van der Vliet, Judit Balog, Jelle J Goeman, Wibowo Arindrarto, Yvonne D Krom, Kirsten R Straasheijm, Rashmie D Debipersad, Gizem Özel, Janet Sowden, Lauren Snider, Karlien Mul, Sabrina Sacconi, Baziel van Engelen, Stephen J Tapscott, Rabi Tawil, Silvère M van der Maarel
European Journal of Human Genetics, 2018 - The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version
Antoine Dany, Amandine Rapin, Brice Lavrard, Virginie Saoût, Christian Réveillère, Guillaume Bassez, Vincent Tiffreau, Yann Péréon, Sabrina Sacconi, Bruno Eymard, Moustapha Dramé, Damien Jolly, Jean‐Luc Novella, Jean‐Benoit Hardouin, François C. Boyer
Muscle and Nerve, 2017 - Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study
James F Howard, Kimiaki Utsugisawa, Michael Benatar, Hiroyuki Murai, Richard J Barohn, Isabel Illa, Saiju Jacob, John Vissing, Ted M Burns, John T Kissel, Srikanth Muppidi, Richard J Nowak, Fanny O'Brien, Jing-Jing Wang, Renato Mantegazza, Claudio Gabriel Mazia, Miguel Wilken, Carolina Ortea, Juliet Saba, Marcelo Rugiero, Mariela Bettini, Gonzalo Vidal, Alejandra Dalila Garcia, Phillipa Lamont, Wai-Kuen Leong, Heidi Boterhoven, Beverly Fyfe, Leslie Roberts, Mahi Jasinarachchi, Natasha Willlems, Julia Wanschitz, Wolfgang Löscher, Jan De Bleecker, Guy Van den Abeele, Kathy de Koning, Katrien De Mey, Rudy Mercelis, Linda Wagemaekers, Delphine Mahieu, Philip Van Damme, Charlotte Smetcoren, Olivier Stevens, Sarah Verjans, Ann D'Hondt, Petra Tilkin, Alzira Alves de Siqueira Carvalho, Rosa Hasan, Igor Dias Brockhausen, David Feder, Daniel Ambrosio, Ana Paula Melo, Rosana Rocha, Bruno Rosa, Thabata Veiga, Luiz Augusto da Silva, Jordana Gonçalves Geraldo, Maria da Penha Morita Ananias, Erica Nogueira Coelho, Gabriel Paiva, Marina Pozo, Natalia Prando, Debora Dada Martineli Torres, Cristiani Fernanda Butinhao, Erica Coelho, Luciana Renata Cubas Volpe, Gustavo Duran, Tamires Cristina Gomes da Silva, Luiz Otavio Maia Gonçalves, Lucas Eduardo Pazetto, Luciana Souza Duca, Tomás Augusto Suriane Fialho, Maurício André Gheller Friedrich, Alexandre Guerreiro, Henrique Mohr, Maurer Pereira Martins, Daiane da Cruz Pacheco, Ana Paula Macagnan, Aline de Cassia Santos, Acary Souza Bulle Oliveira, Ana Carolina Amaral de Andrade, Marcelo Annes, Valeria Cavalcante Lino, Wladimir Pinto, Carolina Miranda, Fernanda Carrara, Iandra Souza, Angela Genge, Rami Massie, Natasha Campbell, Vera Bril, Hans Katzberg, Mehran Soltani, Eduardo Ng, Zaeem Siddiqi, Celile Phan, Derrick Blackmore, Stanislav Vohanka, Josef Bednarik, Magda Chmelikova, Marek Cierny, Stanislava Toncrova, Jana Junkerova, Barbora Kurkova, Katarina Reguliova, Olga Zapletalova, Jiri Pitha, Iveta Novakova, Michaela Tyblova, Marcela Wolfova, Ivana Jurajdova, Henning Andersen, Thomas Harbo, Lotte Vinge, Anita Mogensen, Joan Højgaard, Nanna Witting, Anne Mette Autzen, Jane Pedersen, Markus Färkkilä, Sari Atula, Anne Nyrhinen, Juha-Pekka Erälinna, Mikko Laaksonen, Olli Oksaranta, Jaana Eriksson, Tuula Harrison, Claude Desnuelle, Sabrina Sacconi, Marie-Hélène Soriani, Sonia Decressac, Julie Moutarde, Pauline Lahaut, Guilhem Solé, Gwendal Le Masson, Anne-Cécile Wielanek-Bachelet, Morgane Gaboreau, Caroline Moreau, Amy Wilson, Christophe Vial, Françoise Bouhour, Helene Gervais-Bernard, Hélène Merle, Caroline Hourquin, Arnaud Lacour, Olivier Outteryck, Patrick Vermersch, Hélène Zephir, Edouard Millois, Michel Deneve, Fabienne Deruelle, Benedikt Schoser, Stephan Wenninger, Martin Stangel, Sascha Alvermann, Stefan Gingele, Thomas Skripuletz, Kurt-Wolfram Suehs, Corinna Trebst, Karin Fricke, Sotirios Papagiannopoulos, Sevasti Bostantzopoulou, Nicholas Vlaikidis, Martha Zampaki, Nikoletta Papadopoulou, Dimos-Dimitrios Mitsikostas, Eleni Kasioti, Efstathia Mitropoulou, Despoina Charalambous, Csilla Rozsa, Melinda Horvath, Gabor Lovas, Judit Matolcsi, Gyorgyi Szabo, Brigitta Szabadosne, Laszlo Vecsei, Livia Dezsi, Edina Varga, Monika Konyane, Bella Gross, Olga Azrilin, Nelly Greenbereg, Hila Bali Kuperman, Giovanni Antonini, Matteo Garibaldi, Stefania Morino, Fernanda Troili, Antonella Di Pasquale, Alessandro Filla, Teresa Costabile, Enrico Marano, Francesco Sacca, Angela Marsil, Giorgia Puorro, Michelangelo Maestri Tassoni, Anna De Rosa, Silvia Bonanno, Carlo Antozzi, Lorenzo Maggi, Angela Campanella, Corrado Angelini, Paola Cudia, Valentina Pegoraro, Elena Pinzan, Francesca Bevilacqua, Daniele Orrico, Domenico Marco Bonifati, Amelia Evoli, Paolo Emilio Alboini, Valentina D'Amato, Raffaele Iorio, Maurizio Inghilleri, Laura Fionda, Vittorio Frasca, Elena Giacomelli, Maria Gori, Diego Lopergolo, Emanuela Onesti, Maria Gabriele, Francesco Patti, Andrea Salvatore Caramma, Silvia Messina, Ester Reggio, Cinzia Caserta, Akiyuki Uzawa, Tetsuya Kanai, Masahiro Mori, Yoko Kaneko, Akiko Kanzaki, Eri Kobayashi, Katsuhisa Masaki, Dai Matsuse, Takuya Matsushita, Taira Uehara, Misa Shimpo, Maki Jingu, Keiko Kikutake, Yumiko Nakamura, Yoshiko Sano, Yuriko Nagane, Ikuko Kamegamori, Yuko Fujii, Kazumi Futono, Tomoko Tsuda, Yuka Saito, Hidekazu Suzuki, Miyuki Morikawa, Makoto Samukawa, Sachiko Kamakura, Hirokazu Shiraishi, Teiichiro Mitazaki, Masakatsu Motomura, Akihiro Mukaino, Shunsuke Yoshimura, Shizuka Asada, Tomomi Kobashikawa, Megumi Koga, Yasuko Maeda, Kazumi Takada, Mihoko Takada Takada, Yumi Yamashita, Seiko Yoshida, Yasushi Suzuki, Tetsuya Akiyama, Koichi Narikawa, Kenichi Tsukita, Fumie Meguro, Yusuke Fukuda, Miwako Sato, Hidenori Matsuo, Takayasu Fukudome, Yuichiro Gondo, Yasuhiro Maeda, Akiko Nagaishi, Shunya Nakane, Yoshinori Okubo, Meinoshin Okumura, Soichiro Funaka, Tomohiro Kawamura, Masayuki Makamori, Masanori Takahashi, Tomoya Hasuike, Eriko Higuchi, Hisako Kobayashi, Kaori Osakada, Namie Taichi, Emiko Tsuda, Takashi Hayashi, Shin Hisahara, Tomihiro Imai, Jun Kawamata, Takashi Murahara, Masaki Saitoh, Shun Shimohama, Shuichiro Suzuki, Daisuke Yamamoto, Shingo Konno, Tomomi Imamura, Masashi Inoue, Mayumi Murata, Hiroshi Nakazora, Ritsu Nakayama, Yasuko Ikeda, Miki Ogawa, Maoko Shirane, Takashi Kanda, Motoharu Kawai, Michiaki Koga, Junichi Ogasawara, Masatoshi Omoto, Yasuteru Sano, Hideki Arima, Sachie Fukui, Shigemi Shimose, Hirokazu Shinozaki, Masanori Watanabe, Chieko Yoshikawa, Anneke van der Kooi, Marianne de Visser, Tamar Gibson, Jos Maessen, Marc de Baets, Catherine Faber, Maria Johanna Keijzers, Monique Miesen, Anna Kostera-Pruszczyk, Anna Kaminska, Byung-Jo Kim, Chang Nyoung Lee, Yong Seo Koo, Hung Youl Seok, Hoo Nam Kang, HyeJin Ra, Byoung Joon Kim, Eun Bin Cho, HyeLim Lee, Ju-Hong Min, Jinmyoung Seok, Da Yoon Koh, JuYoung Kwon, JiEun Lee, SangAe Park, Yoon-Ho Hong, Jae-Sung Lim, MiRi Kim, Seung Min Kim, Yool-hee Kim, Hyung Seok Lee, Ha Young Shin, Eun Bi Hwang, MiJu Shin, Denis Sazonov, Asya Yarmoschuk, Larisa Babenko, Nadezhda Malkova, Anna Melnikova, Denis Korobko, Evgeniya Kosykh, Dmitry Pokhabov, Yulia Nesterova, Vladislav Abramov, Victor Balyazin, Carlos Casasnovas Pons, Maria Alberti Aguilo, Christian Homedes-Pedret, Natalia Julia Palacios, Ana Lazaro, Exuperio Diez Tejedor, Mireya Fernandez-Fournier, Pedro Lopez Ruiz, Francisco Javier Rodriguez de Rivera, Maria Salvado Figueras, Josep Gamez, Maria Salvado, Elena Cortes Vicente, Jordi Diaz-Manera, Luis Querol Gutierrez, Ricardo Rojas Garcia, Nuria Vidal, Elisabet Arribas-Ibar, Fredrik Piehl, Albert Hietala, Lena Bjarbo, Christopher Lindberg, Daniel Jons, Blanka Andersson, Ihsan Sengun, Pinar Ozcelik, Celal Tuga, Muzeyyen Ugur, Cavit Boz, Didem Altiparmak, Sibel Gazioglu, Cigdem Ozen Aydin, Sevim Erdem-Ozdamar, Can Ebru Bekircan-Kurt, Ezgi Yilmaz, Nazire Pinar Acar, Yagmur Caliskan, Husnu Efendi, Seda Aydinlik, Hakan Cavus, Cansu Semiz, Ozlem Tun, Murat Terzi, Baki Dogan, Musa Kazim Onar, Sedat Sen, Tugce Kirbas Cavdar, Fiona Norwood, Aikaterini Dimitriou, Jakit Gollogly, Mohamed Mahdi-Rogers, Arshira Seddigh, Gal Maier, Faisal Sohail, Sivakumar Sathasivam, Heike Arndt, Debbie Davies, Dave Watling, Michael Rivner, J. Edward Hartmann, Brandy Quarles, Nicole Smalley, Anthony Amato, Thomas Cochrane, Mohammed Salajegheh, Kristen Roe, Katherine Amato, Shirli Toska, Gil Wolfe, Nicholas Silvestri, Kara Patrick, Karen Zakalik, Jonathan Katz, Robert Miller, Marguerite Engel, Elena Bravver, Benjamin Brooks, Sarah Plevka, Maryanne Burdette, Mohammad Sanjak, Megan Kramer, Joanne Nemeth, Clara Schommer, Vern Juel, Jeffrey Guptill, Lisa Hobson-Webb, Kate Beck, Donna Carnes, John Loor, Amanda Anderson, Dale Lange, Eliz Agopian, Jonathan Goldstein, Erin Manning, Lindsay Kaplan, Shara Holzberg, Nicole Kassebaum, Robert Pascuzzi, Cynthia Bodkin, John Kincaid, Riley Snook, Sandra Guinrich, Angela Micheels, Vinay Chaudhry, Andrea Corse, Betsy Mosmiller, Doreen Ho, Jayashri Srinivasan, Michael Vytopil, Nicholas Ventura, Stephanie Scala, Cynthia Carter, Craig Donahue, Carol Herbert, Elaine Weiner, Jonathan McKinnon, Laura Haar, Naya McKinnon, Karan Alcon, Kevin Daniels, Nadia Sattar, Dennis Jeffery, Kaitlyn McKenna, Amanda Guidon, William David, Christina Dheel, Mark Levine-Weinberg, Catherine Nigro, Ericka Simpson, Stanley H Appel, Eugene Lai, Luis Lay, Jr, Milvia Pleitez, Sharon Halton, Casey Faigle, Lisa Thompson, Mark Sivak, Susan Shin, Joan Bratton, Daniel Jacobs, Gavin Brown, Ibrez Bandukwala, Morris Brown, Jennifer Kane, Ira Blount, Miriam Freimer, J. Chad Hoyle, Julie Agriesti, Julie Khoury, Tessa Marburger, Harpreet Kaur, Diana Dimitrova, Michelle Mellion, George Sachs, Brigid Crabtree, Roseann Keo, Ele Kim Perez, Sandra Taber, James Gilchrist, Angela Andoin, Taylor Darnell, Neelam Goyal, Sarada Sakamuri, Yuen T So, Lesly Welsh Welsh, Ratna Bhavaraju-Sanka, Alejandro Tobon Gonzalez, Floyd Jones, Amy Saklad, Sharon Nations, Jaya Trivedi, Steve Hopkins, Mohamed Kazamel, Mohammad Alsharabati, Liang Lu, Sandi Mumfrey-Thomas, Amy Woodall, David Richman, Janelle Butters, Molly Lindsay, Tahseen Mozaffar, Tiyonnoh Cash, Namita Goyal, Gulmohor Roy, Veena Mathew, Fatima Maqsood, Brian Minton, H. James Jones, Jeffrey Rosenfeld, Rebekah Garcia, Sonia Garcia, Laura Echevarria, Michael Pulley, Shachie Aranke, Alan Ross Berger, Jaimin Shah, Yasmeen Shabbir, Lisa Smith, Mary Varghese, Laurie Gutmann, Ludwig Gutmann, Andrea Swenson, Heena Olalde, Charlene Hafer-Macko, Justin Kwan, Lindsay Zilliox, Karen Callison, Beth DiSanzo, Kerry Naunton, Martin Bilsker, Khema Sharma, Eliana Reyes, Anne Cooley, Sara-Claude Michon, Julie Steele, Chafic Karam Karam, Manisha Chopra, Shawn Bird, Jacob Kaufman, Nichole Gallatti, Tuan Vu, Lara Katzin, Terry McClain, Brittany Harvey, Adam Hart, Kristin Huynh, Said Beydoun, Amaiak Chilingaryan, Brian Droker, Frank Lin, Akshay Shah, Anh Tran, Salma Akhter, Ali Malekniazi, Rup Tandan, Michael Hehir, Waqar Waheed, Shannon Lucy, Michael Weiss, Jane Distad, Sharon Downing, Susan Strom, Robert Lisak, Evanthia Bernitsas, Omar Khan, Shitiz Kumar Sriwastava, Alexandros Tselis, Kelly Jia, Tulio Bertorini, Thomas Arnold, Kendrick Henderson, Rekha Pillai, Ye Liu, Lauren Wheeler, Jasmine Hewlett, Mollie Vanderhook, Daniel Dicapua, Benison Keung, Aditya Kumar, Huned Patwa, Kimberly Robeson, Joan Nye, Hong Vu
Lancet Neurology, 2017 - Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
Constantinos Papadopoulos, David Orlikowski, Hélène Prigent, Arnaud Lacour, Céline Tard, Alain Furby, Julien Praline, Guilhem Solé, Jean-Yves Hogrel, Marie De Antonio, Claudio Semplicini, Joelle Deibener-Kaminsky, Pierre Kaminsky, Bruno Eymard, Nadjib Taouagh, Barbara Perniconi, Dalil Hamroun, Pascal Laforêt, G. Bassez, A.-L. Bedat-Millet, A. Behin, B. Eymard, S. Leonard-Louis, T. Stojkovic, A. Canal, V. Decostre, F. Bouhour, F. Boyer, C. Caillaud, Y. Castaing, F. Chapon, P. Cintas, I. Durieu, A. Echaniz-Laguna, L. Feasson, X. Ferrer, R. Froissart, M. Piraud, D. Germain, K. Benistan, N. Guffon-Fouilhoux, H. Journel, P. Labauge, A. Levy, A. Magot, Y. Péréon, M.-C. Minot-Myhié, A. Nadaj-Pakleza, C. Nathier, N. Pellegrini, P. Petiot, F. Lofaso, A. Dutry, D. Renard, S. Sacconi, C. Desnuelle, E. Salort-Campana, J. Pouget, V. Tiffreau, D. Vincent, F. Zagnoli
Molecular Genetics and Metabolism, 2017 - 225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands
Karlien Mul, June Kinoshita, Hugh Dawkins, Baziel van Engelen, Rossella Tupler, Verònica Alonso Ferreira, Sharam Attarian, Angela Berardinelli, Betsy Bogard, Hugh Dawkins, Baziel van Engelen, Teresinha Evangelista, Kees van der Graaf, Chad Heatwole, June Kinoshita, Silvère Van der Maarel, Jean Mah, Karlien Mul, Jacqui van Rens, Armelle Richiardi, Richard Roxburgh, Sabrina Sacconi, Rabi Tawil, Rossella Tupler, Diana van der Meij-Kim, Nicole Voet, Stanislav Vohánka
Neuromuscular Disorders, 2017 - Bent spine syndrome as the initial symptom of late-onset Pompe disease
Nicolas Taisne, Claude Desnuelle, Raul Juntas Morales, Xavier Ferrer Monasterio, Sabrina Sacconi, Fanny Duval, Guilhem Sole, René Marc Flipo, Arnaud Lacour, Patrick Vermersch, Thierry Cardon
Muscle and Nerve, 2017 - Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy
Konstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, Sylvie Bannwarth, Charlotte Cochaud, Christian Richelme, Sabrina Sacconi, Veronique Paquis‐Flucklinger
Muscle and Nerve, 2017 - European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience
A. T. van der Ploeg, M. E. Kruijshaar, A. Toscano, P. Laforêt, C. Angelini, R. H. Lachmann, S. I. Pascual Pascual, M. Roberts, K. Rösler, T. Stulnig, P. A. van Doorn, P. Y. K. Van den Bergh, J. Vissing, B. Schoser, the European Pompe Consortium
European Journal of Neurology, 2017 - A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis
M. Garibaldi, F. Fattori, B. Riva, C. Labasse, G. Brochier, P. Ottaviani, S. Sacconi, E. Vizzaccaro, F. Laschena, N.B. Romero, A. Genazzani, E. Bertini, G. Antonini
Clinical Genetics, 2017 - Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis
J B Lilleker, A Rietveld, S R Pye, K Mariampillai, O Benveniste, M T J Peeters, J A L Miller, M G Hanna, P M Machado, M J Parton, K R Gheorghe, U A Badrising, I E Lundberg, S Sacconi, M K Herbert, N J McHugh, B R F Lecky, C Brierley, D Hilton-Jones, J A Lamb, M E Roberts, R G Cooper, C G J Saris, G J M Pruijn, H Chinoy, B G M van Engelen
Annals of the Rheumatic Diseases, 2017 - Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity
Emanuela Teveroni, Marsha Pellegrino, Sabrina Sacconi, Patrizia Calandra, Isabella Cascino, Stefano Farioli-Vecchioli, Angela Puma, Matteo Garibaldi, Roberta Morosetti, Giorgio Tasca, Enzo Ricci, Carlo Pietro Trevisan, Giuliana Galluzzi, Alfredo Pontecorvi, Marco Crescenzi, Giancarlo Deidda, Fabiola Moretti
Journal of Clinical Investigation, 2017 - Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients
Aude-Clémence M. Doix, Karin Roeleveld, Jérémy Garcia, Pauline Lahaut, Véronique Tanant, Manuella Fournier-Mehouas, Claude Desnuelle, Serge S. Colson, Sabrina Sacconi
American Journal of Physical Medicine and Rehabilitation, 2017 - Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD)
Matteo Garibaldi, Sabrina Sacconi, Giovanni Antonini, Claude Desnuelle
Journal of Neurology, 2017 - Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
Cecilia Marelli, Claire Guissart, Cecile Hubsch, Mathilde Renaud, Jean-Philippe Villemin, Lise Larrieu, Perrine Charles, Xavier Ayrignac, Sabrina Sacconi, Patrick Collignon, Danielle Cuntz-Shadfar, Laurine Perrin, Anelia Benarrosh, Adrian Degardin, Ouhaïd Lagha-Boukbiza, Eugenie Mutez, Bertrand Carlander, Raul Juntas Morales, Victoria Gonzalez, Clarisse Carra-Dalliere, Souhayla Azakri, Claude Mignard, Elisabeth Ollagnon, Nicolas Pageot, Dominique Chretien, Christian Geny, Jean-Philippe Azulay, Christine Tranchant, Mireille Claustres, Pierre Labauge, Mathieu Anheim, Cyril Goizet, Patrick Calvas, Michel Koenig
Human Mutation, 2016 - Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients
Elisa Masat, Pascal Laforêt, Marie De Antonio, Guillaume Corre, Barbara Perniconi, Nadjib Taouagh, Kuberaka Mariampillai, Damien Amelin, Wladimir Mauhin, Jean-Yves Hogrel, Catherine Caillaud, Giuseppe Ronzitti, Francesco Puzzo, Klaudia Kuranda, Pasqualina Colella, Roberto Mallone, Olivier Benveniste, Federico Mingozzi, French Pompe Registry Study Group, G. Bassez, A. L. Bedat-Millet, A. Behin, B. Eymard, S. Leonard-Louis, T. Stojkovic, A. Canal, V. Decostre, F. Bouhour, F. Boyer, Y. Castaing, F. Chapon, P. Cintas, I. Durieu, A. Echaniz-Laguna, L. Feasson, A. Furby, D. Hamroun, X. Ferrer, G. Solé, R. Froissart, M. Piraud, D. Germain, K. Benistan, N. Guffon-Fouilhoux, H. Journel, P. Labauge, A. Lacour, A. Levy, A. Magot, Y. Péréon, M. -C. Minot-Myhié, A. Nadaj-Pakleza, C. Nathier, D. Orlikowski, N. Pellegrini, P. Petiot, J. Praline, F. Lofaso, H. Prigent, A. Dutry, D. Renard, S. Sacconi, C. Desnuelle, E. Salort-Campana, J. Pouget, V. Tiffreau, D. Vincent, F. Zagnoli
Scientific Reports, 2016 - The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency
Maria Andrea Desbats, Valeria Morbidoni, Micol Silic-Benussi, Mara Doimo, Vincenzo Ciminale, Matteo Cassina, Sabrina Sacconi, Michio Hirano, Giuseppe Basso, Fabien Pierrel, Placido Navas, Leonardo Salviati, Eva Trevisson
Human Molecular Genetics, 2016 - The genetic basis of undiagnosed muscular dystrophies and myopathies
Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Marina Fanin, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, Alessandra Ruggieri, Dario Ronchi, Giorgio Tasca, Adele D'Amico, Sandra Janssens, Olimpia Farina, Margherita Mutarelli, Veer Singh Marwah, Arcomaria Garofalo, Teresa Giugliano, Simone Sanpaolo, Francesca Del Vecchio Blanco, Gaia Esposito, Giulio Piluso, Paola D'Ambrosio, Roberta Petillo, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Anni Evilä, Peter Hackman, Massimiliano Filosto, Giuseppe Di Iorio, Gabriele Siciliano, Marina Mora, Lorenzo Maggi, Carlo Minetti, Sabrina Sacconi, Lucio Santoro, Kathleen Claes, Liliana Vercelli, Tiziana Mongini, Enzo Ricci, Francesca Gualandi, Rossella Tupler, Jan De Bleecker, Bjarne Udd, Antonio Toscano, Maurizio Moggio, Elena Pegoraro, Enrico Bertini, Eugenio Mercuri, Corrado Angelini, Filippo Maria Santorelli, Luisa Politano, Claudio Bruno, Giacomo Pietro Comi, Vincenzo Nigro
Neurology, 2016 - Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015
Rabi Tawil, Jean K. Mah, Scott Baker, Kathryn R. Wagner, Monique M. Ryan, Scott Baker, Alistair Corbett, Baziel van Engelen, Stephen McNamara, Jean K. Mah, Monique M. Ryan, John Rasko, Veena Raykar, Sabrina Sacconi, Stephen J. Tapscott, Rabi Tawil, Kathryn R. Wagner, Alan Watts
Neuromuscular Disorders, 2016 - Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York
Rabi Tawil, George W. Padberg, Dennis W. Shaw, Silvère M. van der Maarel, Stephen J. Tapscott
Neuromuscular Disorders, 2016 - Gender as a modifying factor influencing myotonic dystrophy type 1 phenotype severity and mortality: A nationwide multiple databases cross-sectional observational study
Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K. Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
Plos One, 2016 - Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells
Jonathan Pini, Matthieu Rouleau, Claude Desnuelle, Sabrina Sacconi, Saïd Bendahhou
Stem Cells and Development, 2016 - CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
Godelieve Morel, Cécile Rouzier, Annabelle Chaussenot, Samira Ait‐El‐Mkadem, Sylvie Bannwarth, Emmanuelle C. Genin, Gaëlle Augé, Brigitte Chabrol, Jean Pouget, Marie Hélène Soriani, Sabrina Sacconi, Véronique Paquis‐Flucklinger
Annals of Neurology, 2015 - Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease
Antoine Dany, Coralie Barbe, Amandine Rapin, Christian Réveillère, Jean-Benoit Hardouin, Isabella Morrone, Aurore Wolak-Thierry, Moustapha Dramé, Arnaud Calmus, Sabrina Sacconi, Guillaume Bassez, Vincent Tiffreau, Isabelle Richard, Benjamin Gallais, Hélène Prigent, Redha Taiar, Damien Jolly, Jean-Luc Novella, François Constant Boyer
Quality of Life Research, 2015 - Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy
Virginie Mariot, Stephane Roche, Christophe Hourdé, Debora Portilho, Sabrina Sacconi, Francesca Puppo, Stephanie Duguez, Philippe Rameau, Nathalie Caruso, Anne‐Lise Delezoide, Claude Desnuelle, Bettina Bessières, Sophie Collardeau, Leonard Feasson, Thierry Maisonobe, Frederique Magdinier, Françoise Helmbacher, Gillian Butler‐Browne, Vincent Mouly, Julie Dumonceaux
Annals of Neurology, 2015 - Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, Antonio Toscano, Corrado Angelini, Sabrina Sacconi, Lucio Santoro, Enzo Ricci, Kathleen Claes, Luisa Politano, Vincenzo Nigro
Neuromuscular Disorders, 2015 - Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.
Morgane Plutino, Annabelle Chaussenot, Samira Ait-El-Mkadem, Sylvie Bannwarth, Emmanuelle C. Genin, Cécile Rouzier, Gaëlle Augé, Sabrina Sacconi, Jean Pouget, Véronique Paquis-Flucklinger
Journal of the Neurological Sciences, 2015 - Facioscapulohumeral muscular dystrophy
Sabrina Sacconi, Leonardo Salviati, Claude Desnuelle
Biochimica Et Biophysica Acta Molecular Basis of Disease, 2015 - Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Richard J.L.F. Lemmers, Jelle J. Goeman, Patrick J. van der Vliet, Merlijn P. van Nieuwenhuizen, Judit Balog, Marianne Vos-Versteeg, Pilar Camano, Maria Antonia Ramos Arroyo, Ivonne Jerico, Mark T. Rogers, Daniel G. Miller, Meena Upadhyaya, Jan J.G.M. Verschuuren, Adolfo Lopez de Munain Arregui, Baziel G.M. van Engelen, George W. Padberg, Sabrina Sacconi, Rabi Tawil, Stephen J. Tapscott, Bert Bakker, Silvère M. van der Maarel
Human Molecular Genetics, 2015 - The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis
S. Sacco, S. Giuliano, S. Sacconi, C. Desnuelle, J. Barhanin, E.-z. Amri, S. Bendahhou
Human Molecular Genetics, 2015 - Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: A cross-sectional multicenter study
Emmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, Elisabeth Jouve, Guilhem Solé, Aleksandra Nadaj-Pakleza, Julien Niederhauser, Estelle Charles, Elisabeth Ollagnon, Françoise Bouhour, Sabrina Sacconi, Andoni Echaniz-Laguna, Claude Desnuelle, Christine Tranchant, Christophe Vial, Frederique Magdinier, Marc Bartoli, Marie-Christine Arne-Bes, Xavier Ferrer, Thierry Kuntzer, Nicolas Levy, Jean Pouget, Shahram Attarian
Orphanet Journal of Rare Diseases, 2015 - Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Anna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, Claus Liebe, Jan Bürmann, Rudolf A Kley, Andreas Ferbert, Roland Anderheiden, Peter Van den Bergh, Jean-Jacques Martin, Peter De Jonghe, Eva Neuen-Jacob, Oliver Müller, Marcus Deschauer, Markus Bergmann, J Michael Schröder, Matthias Vorgerd, Jörg B Schulz, Joachim Weis, Wolfram Kress, Kristl G Claeys
Orphanet Journal of Rare Diseases, 2014 - Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease
Sabrina Sacconi, Karim Wahbi, Guillaume Theodore, Jérémy Garcia, Leonardo Salviati, Françoise Bouhour, Christophe Vial, Denis Duboc, Pascal Laforêt, Claude Desnuelle
Neuromuscular Disorders, 2014 - Long-term mechanical ventilation equipment for neuromuscular patients: Meeting the expectations of patients and prescribers
Frédéric Lofaso, Hélène Prigent, Vincent Tiffreau, Nathalie Menoury, Michel Toussaint, Armelle Finet Monnier, Natalie Stremler, Christian Devaux, Karl Leroux, David Orlikowski, Cécile Mauri, Isabelle Pin, Sabrina Sacconi, Cécile Pereira, Jean-Louis Pépin, Brigitte Fauroux
Respiratory Care, 2014 - DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
Maxime Ferreboeuf, Virginie Mariot, Bettina Bessières, Alexandre Vasiljevic, Tania Attié-Bitach, Sophie Collardeau, Julia Morere, Stéphane Roche, Frédérique Magdinier, Jérôme Robin-Ducellier, Philippe Rameau, Sandra Whalen, Claude Desnuelle, Sabrina Sacconi, Vincent Mouly, Gillian Butler-Browne, Julie Dumonceaux
Human Molecular Genetics, 2014 - Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
Cécile Rouzier, Annabelle Chaussenot, Valérie Serre, Konstantina Fragaki, Sylvie Bannwarth, Samira Ait-El-Mkadem, Shahram Attarian, Elsa Kaphan, Aline Cano, Emilien Delmont, Sabrina Sacconi, Bénédicte Mousson de Camaret, Marlène Rio, Anne-Sophie Lebre, Claude Jardel, Romain Deschamps, Christian Richelme, Jean Pouget, Brigitte Chabrol, Véronique Paquis-Flucklinger
European Journal of Human Genetics, 2014 - Facio scapulo humeral muscular dystrophy
Muscular Dystrophy Causes and Management, 2013 - The FSHD2 gene SMCHD1 Is a modifier of disease severity in families affected by FSHD1
Sabrina Sacconi, Richard J.L.F. Lemmers, Judit Balog, Patrick J. van der Vliet, Pauline Lahaut, Merlijn P. van Nieuwenhuizen, Kirsten R. Straasheijm, Rashmie D. Debipersad, Marianne Vos-Versteeg, Leonardo Salviati, Alberto Casarin, Elena Pegoraro, Rabi Tawil, Egbert Bakker, Stephen J. Tapscott, Claude Desnuelle, Silvère M. van der Maarel
American Journal of Human Genetics, 2013 - Facioscapulohumeral muscular dystrophy type 2
S. Sacconi, C. Desnuelle
Revue Neurologique, 2013 - The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease
P. Laforêt, K. Laloui, B. Granger, D. Hamroun, N. Taouagh, J.-Y. Hogrel, D. Orlikowski, F. Bouhour, A. Lacour, E. Salort-Campana, I. Penisson-Besnier, S. Sacconi, F. Zagnoli, F. Chapon, B. Eymard, C. Desnuelle, J. Pouget
Revue Neurologique, 2013 - Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases
V. Humbertclaude, D. Hamroun, M.-C. Picot, K. Bezzou, C. Bérard, O. Boespflug-Tanguy, C. Bommelaer, E. Campana-Salort, C. Cances, B. Chabrol, M.-C. Commare, J.-M. Cuisset, C. de Lattre, C. Desnuelle, B. Echenne, C. Halbert, O. Jonquet, A. Labarre-Vila, M.-A. N’Guyen-Morel, M. Pages, J.-L. Pepin, T. Petitjean, J. Pouget, E. Ollagnon-Roman, C. Richelme, F. Rivier, S. Sacconi, V. Tiffreau, C. Vuillerot, C. Béroud, S. Tuffery-Giraud, M. Claustres
Revue Neurologique, 2013 - EFNS review on the role of muscle biopsy in the investigation of myalgia
T. Kyriakides, C. Angelini, J. Schaefer, T. Mongini, G. Siciliano, S. Sacconi, J. Joseph, J. M. Burgunder, L. A. Bindoff, J. Vissing, M. de Visser, D. Hilton‐Jones
European Journal of Neurology, 2013 - A Novel Role for the RNA-Binding Protein FXR1P in Myoblasts Cell-Cycle Progression by Modulating p21/Cdkn1a/Cip1/Waf1 mRNA Stability
Laetitia Davidovic, Nelly Durand, Olfa Khalfallah, Ricardo Tabet, Pascal Barbry, Bernard Mari, Sabrina Sacconi, Hervé Moine, Barbara Bardoni
Plos Genetics, 2013 - Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size
Jeffrey M. Statland, Sabrina Sacconi, Constantine Farmakidis, Colleen M. Donlin-Smith, Mina Chung, Rabi Tawil
Neurology, 2013 - Development and validation of a motor function classification in patients with neuromuscular disease: The NM-Score
C. Vuillerot, P. Rippert, S. Roche, C. Bérard, F. Margirier, C. de Lattre, I. Poirot, A. Berruyer, V. Tiffreau, M. Fournier-Mehouas, F. Bouhour, J.-A. Urtizberea, A. Renders, R. Ecochard, A. Le Flem, A. Barrière, A.P. Rouyer, S. Fontaine, J.-P. Vadot, E. Luc Pupat, Y. Chartier, D. Vincent-Genod, F. Girardot, V. Manel, F. Aubert, G. Rode, D. Denis, V. Germa, S. Quijano, N. Pelligrini, M.C. d’Anjou, L. Féasson, S. Chabrier, A. Furby, C. Goyet, M.C. Delmas, M. Campech, F. Robert, H. Hovart, J.-M. Cuisset, I. Badoil, C. Fafin, V. Tanant, S. Sacconi, J.-P. Gayraud, A. Carpentier, S. Vanderschueren, I. Bourdeauducq, D. Salicio-Castillo, A.M. Cobo, M.C. Commare, V. Farigoule, C. Huzar, B. Berger, V. Humbertclaude, F. Rumeau, E. Viehweger, C. Payet-Laury, I. Penisson-Besnier, V. Kinet, D. Laridant, V. Spehrs-Ciaffi, G. Bassez, N. Goemans, D. Pichancourt, L. Jezequel, N. Vedrenne
Annals of Physical and Rehabilitation Medicine, 2013 - Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, Judit Balog, Gregory J Block, Gijs W E Santen, Amanda M Amell, Patrick J van der Vliet, Rowida Almomani, Kirsten R Straasheijm, Yvonne D Krom, Rinse Klooster, Yu Sun, Johan T den Dunnen, Quinta Helmer, Colleen M Donlin-Smith, George W Padberg, Baziel G M van Engelen, Jessica C de Greef, Annemieke M Aartsma-Rus, Rune R Frants, Marianne de Visser, Claude Desnuelle, Sabrina Sacconi, Galina N Filippova, Bert Bakker, Michael J Bamshad, Stephen J Tapscott, Daniel G Miller, Silvère M van der Maarel
Nature Genetics, 2012 - Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations
Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, Roberta Siviero, Cristina Cerqua, Mara Doimo, Giuseppe Basso, Sabrina Sacconi, Matteo Cassina, Rosario Rizzuto, Sonja Brosel, Mercy M Davidson, Salvatore DiMauro, Eric A Schon, Maurizio Clementi, Eva Trevisson, Leonardo Salviati
Orphanet Journal of Rare Diseases, 2012 - Pain assessment in Charcot-Marie-Tooth (CMT) disease
C. Ribiere, M. Bernardin, S. Sacconi, E. Delmont, M. Fournier-Mehouas, H. Rauscent, M. Benchortane, P. Staccini, M. Lantéri-Minet, C. Desnuelle
Annals of Physical and Rehabilitation Medicine, 2012 - Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
Leonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, Alberto Casarin, Vanessa Pertegato, Mara Doimo, Matteo Cassina, Caterina Agosto, Maria Andrea Desbats, Geppo Sartori, Sabrina Sacconi, Luigi Memo, Orsetta Zuffardi, Rafael Artuch, Catarina Quinzii, Salvatore DiMauro, Michio Hirano, Carlos Santos-Ocaña, Plácido Navas
Journal of Medical Genetics, 2012 - Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials
Véronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, Carole Bérard, Odile Boespflug-Tanguy, Christine Bommelaer, Emmanuelle Campana-Salort, Claude Cances, Brigitte Chabrol, Marie-Christine Commare, Jean-Marie Cuisset, Capucine de Lattre, Claude Desnuelle, Bernard Echenne, Cécile Halbert, Olivier Jonquet, Annick Labarre-Vila, Marie-Ange N’Guyen-Morel, Michel Pages, Jean-Louis Pepin, Thierry Petitjean, Jean Pouget, Elisabeth Ollagnon-Roman, Christian Richelme, François Rivier, Sabrina Sacconi, Vincent Tiffreau, Carole Vuillerot, Marie-Christine Picot, Mireille Claustres, Christophe Béroud, Sylvie Tuffery-Giraud
European Journal of Paediatric Neurology, 2012 - Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
Sabrina Sacconi, Pilar Camaño, Jessica C de Greef, Richard J L F Lemmers, Leonardo Salviati, Pascal Boileau, Adolfo Lopez de Munain Arregui, Silvère M van der Maarel, Claude Desnuelle
Journal of Medical Genetics, 2012 - A novel CRYAB mutation resulting in multisystemic disease
Sabrina Sacconi, Léonard Féasson, Jean Christophe Antoine, Christophe Pécheux, Rafaelle Bernard, Ana Maria Cobo, Alberto Casarin, Leonardo Salviati, Claude Desnuelle, Andoni Urtizberea
Neuromuscular Disorders, 2012 - Diagnostic approach to pauci- or asymptomatic hyperCKemia
European Handbook of Neurological Management, 2011 - Current French Pompe Prevalence Study (French PoPS)
S. Sacconi, M. Piraud, A. Echaniz-Laguna, C. Tranchant, C. Boutte, A. Nadaj, I. Penisson-Besnier, F. Bouhour, H. Gervais, P. Petiot, V. Manel, J. Gallard, E. Salort-Campana, G. Solé, M. Pages, B. Echenne, I. Fourquet, A. Lacour, L. Feasson, A. Magot, B. Chabrol, F. Chapon, P. Clavelou, E. Martinez, E. Baëz, P. Laforêt, J. Pouget, C. Desnuelle
Clinical Therapeutics, 2011 - Retinal involvement and genetic myopathy
S. Sacconi, S. Baillif-Gostoli, C. Desnuelle
Revue Neurologique, 2010 - Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle
Didier F. Pisani, Noémie Clement, Agnès Loubat, Magali Plaisant, Sabrina Sacconi, Jean-Yves Kurzenne, Claude Desnuelle, Christian Dani, Claude A. Dechesne
Stem Cells, 2010 - Clinical features of facioscapulohumeral muscular dystrophy 2
J.C. de Greef, R.J.L.F. Lemmers, P. Camaño, J.W. Day, S. Sacconi, M. Dunand, B.G.M. van Engelen, S. Kiuru-Enari, G.W. Padberg, A.L. Rosa, C. Desnuelle, S. Spuler, M. Tarnopolsky, S.L. Venance, R.R. Frants, S.M. van der Maarel, R. Tawil
Neurology, 2010 - Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
Sabrina Sacconi, Jonathan D. Bocquet, Stéphane Chanalet, Véronique Tanant, Leonardo Salviati, Claude Desnuelle
Journal of Neurology, 2010 - A unifying genetic model for facioscapulohumeral muscular dystrophy
Richard J. L. F. Lemmers, Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, Gert Jan van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, Silvère M. van der Maarel
Science, 2010 - Neuromuscular Electrical Stimulation Training: A Safe and Effective Treatment for Facioscapulohumeral Muscular Dystrophy Patients
Serge S. Colson, Michaël Benchortane, Véronique Tanant, Jean-Paul Faghan, Manuela Fournier-Mehouas, Charles Benaïm, Claude Desnuelle, Sabrina Sacconi
Archives of Physical Medicine and Rehabilitation, 2010 - Isolation of a Highly Myogenic CD34-Negative Subset of Human Skeletal Muscle Cells Free of Adipogenic Potential
Didier F. Pisani, Claude A. Dechesne, Sabrina Sacconi, Severine Delplace, Nathalie Belmonte, Olivia Cochet, Noémie Clement, Brigitte Wdziekonski, Albert P. Villageois, Catherine Butori, Claude Bagnis, James P. Di Santo, Jean-Yves Kurzenne, Claude Desnuelle, Christian Dani
Stem Cells, 2010 - Validity of the motor function measurement scale when routinely used in the follow-up of adult outpatients in a neuromuscular center
C. Benaïm, S. Sacconi, M. Fournier-Mehouas, V. Tanant, C. Desnuelle
Revue Neurologique, 2010 - EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia
T. Kyriakides, C. Angelini, J. Schaefer, S. Sacconi, G. Siciliano, J. J. Vilchez, D. Hilton‐Jones
European Journal of Neurology, 2010 - Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
Sabrina Sacconi, Eva Trevisson, Leonardo Salviati, Ségolène Aymé, Odile Rigal, Alberto Garcia Redondo, Michelangelo Mancuso, Gabriele Siciliano, Paola Tonin, Corrado Angelini, Karine Auré, Anne Lombès, Claude Desnuelle
Neuromuscular Disorders, 2010 - Anti-MAG paraproteinemic demyelinating polyneuropathy: A clinical, biological, electrophysiological and anatomopathological descriptive study of a 13-patients' cohort
M. Launay, E. Delmont, C. Benaim, S. Sacconi, C. Butori, C. Desnuelle
Revue Neurologique, 2009 - Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?
Emilien Delmont, Charles Benaïm, Mael Launay, Sabrina Sacconi, Marie-Hélène Soriani, Claude Desnuelle
Journal of Neurology, 2009 - Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes
S. Sacconi, D. Simkin, N. Arrighi, F. Chapon, M. M. Larroque, S. Vicart, D. Sternberg, B. Fontaine, J. Barhanin, C. Desnuelle, S. Bendahhou
American Journal of Physiology Cell Physiology, 2009 - Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
Jessica C. de Greef, Richard J.L.F. Lemmers, Baziel G.M. van Engelen, Sabrina Sacconi, Shannon L. Venance, Rune R. Frants, Rabi Tawil, Silvère M. van der Maarel
Human Mutation, 2009 - Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency
Sabrina Sacconi, Leonardo Salviati, Eva Trevisson
Journal of Human Genetics, 2009 - The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in Facio-Scapulo-Humeral dystrophy
Alexandre Ottaviani, Sylvie Rival-Gervier, Amina Boussouar, Andrea M. Foerster, Delphine Rondier, Sabrina Sacconi, Claude Desnuelle, Eric Gilson, Frédérique Magdinier
Plos Genetics, 2009 - McArdle disease (gycogenosis type V): Analysis of clinical, biological and genetic features of five French patients
E. Delmont, S. Sacconi, J.-L. Berge-Lefranc, R. Aquaron, C. Butori, C. Desnuelle
Revue Neurologique, 2008 - Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients
L Davidovic, S Sacconi, E G Bechara, S Delplace, M Allegra, C Desnuelle, B Bardoni
Journal of Medical Genetics, 2008 - Dehydroepiandrosterone for myotonic dystrophy type 1
I. Pénisson-Besnier, M. Devillers, R. Porcher, D. Orlikowski, V. Doppler, C. Desnuelle, X. Ferrer, M. -C.A. Bes, F. Bouhour, C. Tranchant, E. Lagrange, A. Vershueren, D. Uzenot, P. Cintas, G. Solé, J. -Y. Hogrel, P. Laforêt, C. Vial, A. L. Vila, S. Sacconi, J. Pouget, B. Eymard, S. Chevret, D. Annane
Neurology, 2008 - A functionally dominant mitochondrial DNA mutation
S. Sacconi, L. Salviati, Y. Nishigaki, W. F. Walker, E. Hernandez-Rosa, E. Trevisson, S. Delplace, C. Desnuelle, S. Shanske, M. Hirano, E. A. Schon, E. Bonilla, D. C. De Vivo, S. DiMauro, M. M. Davidson
Human Molecular Genetics, 2008 - Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
Nicole Monnier, Isabelle Marty, Julien Faure, Claudia Castiglioni, Claude Desnuelle, Sabrina Sacconi, Brigitte Estournet, Ana Ferreiro, Norma Romero, Annie Laquerriere, Leila Lazaro, Jean-Jacques Martin, Eva Morava, Annick Rossi, Anneke Van der Kooi, Marianne de Visser, Corien Verschuuren, Joël Lunardi
Human Mutation, 2008 - Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene
Eva Trevisson, Leonardo Salviati, Maria Cristina Baldoin, Irene Toldo, Alberto Casarin, Sabrina Sacconi, Luca Cesaro, Giuseppe Basso, Alberto B. Burlina
Human Mutation, 2007 - Diagnostic challenges in facioscapulohumeral muscular dystrophy
S. Sacconi, L. Salviati, I. Bourget, D. Figarella, Y. Péréon, R. Lemmers, S. van der Maarel, C. Desnuelle
Neurology, 2006 - hCOX18 and hCOX19: Two human genes involved in cytochrome c oxidase assembly
Sabrina Sacconi, Eva Trevisson, Francesca Pistollato, Maria Cristina Baldoin, Roger Rezzonico, Isabelle Bourget, Claude Desnuelle, Romano Tenconi, Giuseppe Basso, Salvatore DiMauro, Leonardo Salviati
Biochemical and Biophysical Research Communications, 2005 - Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients
J-T Vilquin, J-P Marolleau, S Sacconi, I Garcin, M-N Lacassagne, I Robert, B Ternaux, B Bouazza, J Larghero, C Desnuelle
Gene Therapy, 2005 - Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
L. Salviati, S. Sacconi, L. Murer, G. Zacchello, L. Franceschini, A. M. Laverda, G. Basso, C. Quinzii, C. Angelini, M. Hirano, A. B. Naini, P. Navas, S. DiMauro, G. Montini
Neurology, 2005 - Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations
Stacey K.H. Tay, Sabrina Sacconi, H. Ohran Akman, Judith F. Morales, Augusto Morales, Darryl C. De Vivo, Sara Shanske, Eduardo Bonilla, Salvatore DiMauro
Journal of Child Neurology, 2005 - The possible place of autologus cell therapy in facioscapulohumeral muscular dystrophy
Claude Desnuelle, Sabrina Sacconi, Jean-Pierre Marolleau, Jérôme Larghero, Jean-Thomas Vilquin
Bulletin De L Academie Nationale De Medecine, 2005 - Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency
C. P. Venditti, M. C. Harris, D. Huff, I. Peterside, D. Munson, H. S. Weber, J. Rome, E. M. Kaye, S. Shanske, S. Sacconi, S. Tay, S. DiMauro, G. T. Berry
Journal of Inherited Metabolic Disease, 2004 - Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome
Leonardo Salviati, Cindy Freehauf, Sabrina Sacconi, Salvatore DiMauro, Janet Thoma, Anne Chun‐Hui Tsai
American Journal of Medical Genetics, 2004 - Hepatocerebral mitochondrial dna depletion syndrome: clinical and morphologic features of a nuclear gene mutation
Simon S. Rabinowitz, Daniel Gelfond, Chun-Kuo Chen, Elizabeth S. Gloster, Peter F. Whitington, Sabrina Sacconi, Leonardo Salviati, Salvatore DiMauro
Journal of Pediatric Gastroenterology and Nutrition, 2004 - Mutation screening in patients with isolated cytochrome c oxidase deficiency
SABRINA SACCONI, LEONARDO SALVIATI, CAROLYN M. SUE, SARA SHANSKE, MERCY M. DAVIDSON, EDUARDO BONILLA, ALI B. NAINI, DARRYL C. DE VIVO, AND, SALVATORE DIMAURO
Pediatric Research, 2003 - Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
Charalampos L Karadimas, Leonardo Salviati, Sabrina Sacconi, Penelope Chronopoulou, Sara Shanske, Eduardo Bonilla, Darryl C De Vivo, Salvatore DiMauro
Neuromuscular Disorders, 2002 - Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
M. Mancuso, L. Salviati, S. Sacconi, D. Otaegui, P. Camaño, A. Marina, S. Bacman, C.T. Moraes, J.R. Carlo, M. Garcia, M. Garcia-Alvarez, L. Monzon, A.B. Naini, M. Hirano, E. Bonilla, A.L. Taratuto, S. DiMauro, T.H. Vu
Neurology, 2002 - Mitochondrial DNA depletion and dGK gene mutations
Leonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso, David Otaegui, Pilar Camaño, Alberto Marina, Simon Rabinowitz, Rebecca Shiffman, Karen Thompson, Claire M. Wilson, Annette Feigenbaum, Ali B. Naini, Michio Hirano, Eduardo Bonilla, Salvatore DiMauro, Tuan H. Vu
Annals of Neurology, 2002 - Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
Leonardo SALVIATI, Evelyn HERNANDEZ-ROSA, Winsome F. WALKER, Sabrina SACCONI, Salvatore DiMAURO, Eric A. SCHON, Mercy M. DAVIDSON
Biochemical Journal, 2002 - Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA
Sabrina Sacconi, Leonardo Salviati, Clifton Gooch, Eduardo Bonilla, Sara Shanske, Salvatore DiMauro
Archives of Neurology, 2002 - Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease
Leonardo Salviati, Sabrina Sacconi, Minerva M. Rasalan, David F. Kronn, Alex Braun, Peter Canoll, Mercy Davidson, Sara Shanske, Eduardo Bonilla, Arthur P. Hays, Eric A. Schon, Salvatore DiMauro
Archives of Neurology, 2002 - Acute disseminated encephalomyelitis associated with hepatitis C virus infection
Sabrina Sacconi, Leonardo Salviati, Elisa Merelli
Archives of Neurology, 2001 - Pseudomyotonia in cervical myelopathy: A case report
Neurological Sciences, 2000
