Maja Di Rocco

@gaslini.org

Chief Unit Rare Diseases, Department of Pediatrics
IRCCS Istituto Giannina Gaslini

Maja Di Rocco


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https://researchid.co/diroccomaja

EDUCATION

Main Degree:Medicine and Surgery, Universitiy of Genoa, 1979
Postgraduated degree Pediatrics,University of Genoa 1984
Postgraduated degree Pediatric Neurology and Psychiatry ,University of Genoa, 1987

RESEARCH INTERESTS

Genetic diseases,
Metabolic diseases
283

Scopus Publications

13480

Scholar Citations

63

Scholar h-index

198

Scholar i10-index

Scopus Publications

  • Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy
    Francesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, Joanna Kopecka, Chiara Salio, et al.
    Communications Biology, 2026
  • Hearing loss predictive model in fibrodysplasia ossificans progressiva from a national referral center: developing an hearing loss predictive model
    Tommaso Cacco, Riccardo Papa, Luca Carmisciano, Carola Bruzzo, Lucia Semino, et al.
    Jbmr Plus, 2025
    Fibrodysplasia ossificans progressiva (FOP) is the most dramatic form of progressive heterotopic ossification of soft tissues. Hearing impairment in FOP patient is a common feature, reported by about 50% of affected patients. However, wide case series considering audiologic features are lacking. We report the audiologic history of a group of FOP patients in order to define the hearing loss characteristics, genotype association, and possible rehabilitative options. We report audiometric history of 16 FOP patients referred to our Institute from 2014 onwards without ear malformations or other known reason for audiologic impairment. Major involvement of high frequencies in our FOP cohort suggests that the position of the high-frequency receptors within the cochlea, near the oval window, makes them more exposed to damage than the low-frequency receptors located deeper in the cochlea. Furthermore, the reported gender difference may be secondary to a hormonal effect, as known in patients with otosclerosis. Finally, regarding the genotype, we noted that only the non-classic patient carrying the ACVR1 c.619C>G; p.Q207E mutation, presented a mixed hypoacusia with a sensorineural component prevailing on acute frequencies, currently not deserving hearing aids. This evidence suggests a possible novel genotype association to be confirmed in larger cohort. The present analysis shows that a longer disease history is associated with a statistically significant worse hearing loss, mainly involving the high frequencies. The advent of new therapeutic options highlights the relevance of having comparative follow-up data in order to evaluate the effectiveness of these new therapies against all the various clinical manifestations of FOP.
  • The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
    Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, et al.
    Orphanet Journal of Rare Diseases, 2024
    Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Pompe disease, a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. The CPR document was developed within the activities of the MetabERN, a non-profit European Reference Network for Metabolic Diseases established by the European Union. A working group was selected among members of the MetabERN lysosomal storage disease subnetwork, with specific expertise in the care of Pompe disease, and patient support group representatives. The working strategy was based on a systematic literature search to develop a database, followed by quality assessment of the studies selected from the literature, and by the development of the CPR document according to a matrix provided by MetabERN. Quality assessment of the literature and collection of citations was conducted according to the AGREE II criteria and Grading of Recommendations, Assessment, Development and Evaluation methodology. General aspects were addressed in the document, including pathophysiology, genetics, frequency, classification, manifestations and clinical approach, laboratory diagnosis and multidisciplinary evaluation, therapy and supportive measures, follow-up, monitoring, and pregnancy. The CPR document that was developed was intended to be a concise and easy-to-use tool for standardization of care for patients among the healthcare providers that are members of the network or are involved in the care for Pompe disease patients.
  • Characterization of flare-ups and impact of garetosmab in adults with fibrodysplasia ossificans progressiva: A post hoc analysis of the randomized, double-blind, placebo-controlled LUMINA-1 trial
    Richard Keen, Kathryn M Dahir, Jennifer McGinniss, Robert J Sanchez, Scott Mellis, et al.
    Journal of Bone and Mineral Research, 2024
    Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder, characterized by progressive heterotopic ossification (HO) and painful soft-tissue inflammatory flare-ups. This was a post hoc analysis from a phase 2 (NCT03188666) trial in which adults with FOP received intravenous anti-activin A antibody garetosmab 10 mg/kg or placebo every 4 wk over 28 wk (Period 1), followed by a 28-wk open-label treatment and extension (Periods 2 and 3). Here we describe flare-ups, their relationship to new HO lesions, and the impact of garetosmab on flare-ups. Volume of new HO lesions was measured by CT. Patient-reported flare-ups were defined by any 2 of the following: new onset of pain, swelling, joint stiffness, decrease in movement, or perceived presence of HO. Flare-ups were experienced by 71% (17/24) of placebo-treated patients, 59% (10/17) of whom developed a new HO lesion irrespective of flare-up location; 24% of flare-ups location-matched new HO lesions. Twenty-nine new HO lesions occurred in the placebo cohort by week 28, of which 12 (41%) occurred in the same location as new or ongoing flare-ups. A higher volume of newly formed heterotopic bone (week 28) occurred in placebo-treated patients who had experienced a prior flare-up vs those without (median [Q1:Q3] of 16.6 [12.0:31.1] vs 3.2 cm3). Garetosmab was previously shown to decrease patient-reported flare-up frequency in Period 1; here, garetosmab reduced the median (Q1:Q3) duration of patient-reported flares (15.0 [6.0:82.0] vs 48.0 [15.0:1.00] d) and the severity of flare-ups vs placebo. Frequency of corticosteroid use was numerically reduced in those treated with garetosmab (40.0%) vs placebo (58.3%). In this analysis, 71% of placebo-treated adults with FOP experienced flare-ups over 28 wk, which were associated with an increased volume of newly formed heterotopic bone. Garetosmab reduced the severity and duration of flare-ups, with effects sustained during the entire trial.
  • Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus
    Francesca Bertino, Dibyanti Mukherjee, Massimo Bonora, Christoph Bagowski, Jeannette Nardelli, et al.
    Cell Reports Medicine, 2024
  • Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach
    Anna Bruna Ronchetti, Marina Usai, Valentina Savino, Marco Scaglione, Chiara Maria Tacchino, et al.
    Orphanet Journal of Rare Diseases, 2023
    Background Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to progressive disability and severe functional limitations. In addition to the available and upcoming drug therapies, physical medicine and rehabilitation are important treatment options. Currently, the indication and plan are overlooked, nonspecific and reported only for one patient. Methods We describe a case series of MCTO patients diagnosed and followed by a centre to identify functional deficit as a potential clinical marker of disease progression for future etiological therapies. In addition, we define a symptomatic treatment approach and specific clinical management, including a patient-centred rehabilitation approach. Functional assessments are performed independently by a multidisciplinary group to establish the functional abilities of patients and the relationship between residual motor skills and their degree of autonomy and participation. We suggest a way to identify a rehabilitation plan based on a specific disease using the International Classification of Functioning, Disability and Health Children and Youth (ICF-CY). Results To define a reliable and reproducible “Function Profile”, through age and over time, we used to value the disease status according to the ICF-CY domains. It could be used to determine the complexity of the illness, its overall impact on the complexity of the person and the burden on the caregiver, and an eventual short- and long-term rehabilitation plan for MCTO and other ultra-rare diseases. Conclusion Based on the MCTO experience, we suggest a way to determine a rehabilitation plan based on a specific disease and patient needs, keeping in mind that often the final point is not recovering the full function but improving or maintaining the starting point. In all cases, each patient at the time of diagnosis requires a functional assessment that must be repeated over time to adjust the course of rehabilitation. The evaluations revealed the importance of early rehabilitation management in enhancing independence, participation and control of stress deconditioning, shrinking of muscle tendons and loss of movement to immobility.
  • Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
    Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, et al.
    Orphanet Journal of Rare Diseases, 2023
    Background GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis. Results the proposed algorithm allows for the clinical and biochemical differentiation between GD and ASMD. It is based on enzyme activity assessed on dried blood spots by multiplexed tandem mass spectrometry (MS/MS) coupled to specific biomarkers as second-tier analysis. Conclusions we believe that this method will provide a simple, convenient and sensitive tool for the screening of a selected population that can be used by pediatricians and other specialists (such as pediatric hematologists and pediatric hepatologists) often engaged in diagnosing these disorders.
  • GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
    Andrea Pession, Maja Di Rocco, Francesco Venturelli, Barbara Tappino, William Morello, et al.
    Orphanet Journal of Rare Diseases, 2023
    Background Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD. Materials and methods DBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al. Patients showing β-glucocerebrosidase activity below normal values were recalled to confirm the enzyme deficiency with the gold standard essay on cellular homogenate. Patients tested positive at the gold standard analysis were evaluated through GBA1 gene sequencing. Results 14 out of 154 patients were diagnosed with GD, with a prevalence of 9.09% (5.06–14.78%, CI 95%). Hepatomegaly, thrombocytopenia, anemia, growth delay/deceleration, elevated serum ferritin, elevated Lyso-Gb1 and chitotriosidase were significantly associated with GD. Conclusions GD prevalence in a pediatric population at high-risk appeared to be higher compared to high-risk adults. Lyso-Gb1 was associated with GD diagnosis. The algorithm proposed by Di Rocco et al. can potentially improve the diagnostic accuracy of pediatric GD, allowing the prompt start of therapy, aiming to reduce irreversible complications.
  • Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
    Maja Di Rocco, Eduardo Forleo-Neto, Robert J. Pignolo, Richard Keen, Philippe Orcel, et al.
    Nature Medicine, 2023
    Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by heterotopic ossification (HO) in connective tissues and painful flare-ups. In the phase 2 LUMINA-1 trial, adult patients with FOP were randomized to garetosmab, an activin A-blocking antibody (n = 20) or placebo (n = 24) in period 1 (28 weeks), followed by an open-label period 2 (28 weeks; n = 43). The primary end points were safety and for period 1, the activity and size of HO lesions. All patients experienced at least one treatment-emergent adverse event during period 1, notably epistaxis, madarosis and skin abscesses. Five deaths (5 of 44; 11.4%) occurred in the open-label period and, while considered unlikely to be related, causality cannot be ruled out. The primary efficacy end point in period 1 (total lesion activity by PET–CT) was not met (P = 0.0741). As the development of new HO lesions was suppressed in period 1, the primary efficacy end point in period 2 was prospectively changed to the number of new HO lesions versus period 1. No placebo patients crossing over to garetosmab developed new HO lesions (0% in period 2 versus 40.9% in period 1; P = 0.0027). Further investigation of garetosmab in FOP is ongoing. ClinicalTrials.gov identifier NCT03188666.
  • Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus
    Maurizio Scarpa, Antonio Barbato, Annalisa Bisconti, Alberto Burlina, Daniela Concolino, et al.
    Internal and Emergency Medicine, 2023
  • Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
    Maria Domenica Cappellini, Francesca Carubbi, Maja Di Rocco, Fiorina Giona, Gaetano Giuffrida
    Blood Cells Molecules and Diseases, 2023
  • Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles
    Elisabeth M.W. Eekhoff, Ruben D. de Ruiter, Bernard J. Smilde, Ton Schoenmaker, Teun J. de Vries, et al.
    Human Gene Therapy, 2022
  • Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients
    Roberta Resaz, Davide Cangelosi, Daniela Segalerba, Martina Morini, Paolo Uva, et al.
    International Journal of Molecular Sciences, 2022
  • Whole-body Computed Tomography Versus Dual Energy X‑ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva
    Sarah E. Warner, Frederick S. Kaplan, Robert J. Pignolo, Stacy E. Smith, Edward C. Hsiao, et al.
    Calcified Tissue International, 2021
  • Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood
    Marta Bertamino, Sara Signa, Marco Veneruso, Giulia Prato, Roberta Caorsi, et al.
    Journal of Neurology, 2021
  • Fibrodysplasia ossificans progressiva: A challenging diagnosis
    Daniele De Brasi, Francesca Orlando, Valeria Gaeta, Maria De Liso, Fabio Acquaviva, et al.
    Genes, 2021
  • Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
    Fabio Pettinato, Giovanni Mostile, Roberta Battini, Diego Martinelli, Annalisa Madeo, et al.
    Cerebellum, 2021
  • Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041)
    Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, et al.
    Brain, 2021
  • Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
    Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, et al.
    Brain, 2021
  • Morquio B disease: From pathophysiology towards diagnosis
    Anna Caciotti, Lucrezia Cellai, Rodolfo Tonin, Davide Mei, Elena Procopio, et al.
    Molecular Genetics and Metabolism, 2021
  • An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy
    Marta Bertamino, Sara Signa, Giulia Vagelli, Roberta Caorsi, Alice Zanetti, et al.
    Quantitative Imaging in Medicine and Surgery, 2021
  • Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease
    Maurizio Miano, Annalisa Madeo, Enrico Cappelli, Federica Lanza, Tiziana Lanza, et al.
    Journal of Allergy and Clinical Immunology in Practice, 2020
  • Targeted re-sequencing in pediatric and perinatal stroke
    Alice Grossi, Mariasavina Severino, Marta Rusmini, Domenico Tortora, Luca A. Ramenghi, et al.
    European Journal of Medical Genetics, 2020
  • Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
    Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, et al.
    Molecular Genetics and Genomic Medicine, 2020
  • Parkinson's disease in Gaucher disease patients: What's changing in the counseling and management of patients and their relatives?
    Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, et al.
    Orphanet Journal of Rare Diseases, 2020

RECENT SCHOLAR PUBLICATIONS

  • Characterization of flare-ups and impact of garetosmab in adults with fibrodysplasia ossificans progressiva: a plain language summary of a post hoc analysis of the LUMINA-1 trial
    R Keen, KM Dahir, J McGinniss, RJ Sanchez, S Mellis, AN Economides, ...
    Future Rare Diseases 6 (1), 2635334 , 2026
    2026
  • Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy
    F Bertino, DI Zanin Venturini, E Grasso, J Kopecka, C Salio, B Gnutti, ...
    Communications Biology , 2026
    2026
    Citations: 1
  • Hearing loss predictive model in fibrodysplasia ossificans progressiva from a national referral center: developing an hearing loss predictive model
    T Cacco, R Papa, L Carmisciano, C Bruzzo, L Semino, A Tonelli, ...
    JBMR plus 9 (4), ziaf029 , 2025
    2025
  • Characterization of flare-ups and impact of garetosmab in adults with fibrodysplasia ossificans progressiva: a post hoc analysis of the randomized, double-blind, placebo …
    R Keen, KM Dahir, J McGinniss, RJ Sanchez, S Mellis, AN Economides, ...
    Journal of Bone and Mineral Research 39 (10), 1486-1492 , 2024
    2024
    Citations: 10
  • 3-3. OTHER SKELETAL ANOMALIES OF FOP
    RJ Pignolo, K Cheung, S Kile, MA Fitzpatrick, C De Cunto, ...
    THE FOP TREATMENT GUIDELINES 134, 15 , 2024
    2024
  • 5-12. DEVELOPMENTAL ARTHROPATHY AND DEGENERATIVE JOINT DISEASE IN FOP
    M Severino, M Bertamino, D Tortora, G Morana, S Uccella, R Bocciardi, ...
    THE FOP TREATMENT GUIDELINES 53, 85 , 2024
    2024
  • Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus
    F Bertino, D Mukherjee, M Bonora, C Bagowski, J Nardelli, L Metani, ...
    Cell Reports Medicine 5 (7) , 2024
    2024
    Citations: 11
  • The effects of garetosmab in people with fibrodysplasia ossificans progressiva (FOP): A plain language summary of the LUMINA-1 study
    MD Rocco, R J Pignolo, R Keen, D Srinivasan, S J Mellis, M Davis, ...
    Future Rare Diseases 4 (1), FRD63 , 2024
    2024
  • Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach
    AB Ronchetti, M Usai, V Savino, M Scaglione, CM Tacchino, M Bertamino, ...
    Orphanet Journal of Rare Diseases 18 (1), 392 , 2023
    2023
    Citations: 2
  • The Relationship of Flare-Ups and Heterotopic Ossification in Patients with Fibrodysplasia Ossificans Progressiva: LUMINA-1 Data
    R Keen, J McGinniss, E Forleo-Neto, S Mellis, K Dahir, M Di Rocco, ...
    JOURNAL OF BONE AND MINERAL RESEARCH 38, 71-71 , 2023
    2023
  • Flare-Ups in Patients with Fibrodysplasia Ossificans Progressiva Reduced by Garetosmab Treatment: LUMINA-1 Data
    K Dahir, J McGinniss, E Forle-Neto, S Mellis, R Sanchez, M Di Rocco, ...
    JOURNAL OF BONE AND MINERAL RESEARCH 38, 70-70 , 2023
    2023
  • OR29-06 Flare-Ups In Patients With Fibrodysplasia Ossificans Progressiva Reduced By Garetosmab Treatment: LUMINA-1 Data
    KM Dahir, J McGinniss, E Forleo-Neto, S Mellis, RJ Sanchez, M Di Rocco, ...
    Journal of the Endocrine Society 7 (Supplement_1), bvad114. 571 , 2023
    2023
  • Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
    M Di Rocco, E Forleo-Neto, RJ Pignolo, R Keen, P Orcel, ...
    Nature Medicine 29 (10), 2615-2624 , 2023
    2023
    Citations: 62
  • Screening for lysosomal diseases in a selected pediatric population: The case of Gaucher disease and acid sphingomyelinase deficiency
    M Di Rocco, CD Vici, A Burlina, F Venturelli, A Fiumara, S Fecarotta, ...
    Orphanet Journal of Rare Diseases 18 (1), 197 , 2023
    2023
    Citations: 10
  • GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
    A Pession, M Di Rocco, F Venturelli, B Tappino, W Morello, N Santoro, ...
    Orphanet Journal of Rare Diseases 18 (1), 151 , 2023
    2023
    Citations: 12
  • Acid sphingomyelinase deficiency (ASMD): Addressing knowledge gaps in unmet needs and patient journey in Italy—A Delphi consensus
    M Scarpa, A Barbato, A Bisconti, A Burlina, D Concolino, F Deodato, ...
    Internal and Emergency Medicine 18 (3), 831-842 , 2023
    2023
    Citations: 11
  • Garetosmab, an inhibitor of activin A, reduces heterotopic ossification and flare-ups in adults with fibrodysplasia ossificans progressiva: A randomized, double-blind, placebo …
    M Di Rocco, E Forleo-Neto, R Pignolo, R Keen, P Orcel, ...
    medRxiv, 2023.01. 11.23284254 , 2023
    2023
    Citations: 6
  • Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: a sub-study from the International Collaborative Gaucher Group …
    MD Cappellini, F Carubbi, M Di Rocco, F Giona, G Giuffrida
    Blood Cells, Molecules, and Diseases 98, 102705 , 2023
    2023
    Citations: 18
  • Gene therapy for fibrodysplasia ossificans progressiva: feasibility and obstacles
    EMW Eekhoff, RD De Ruiter, BJ Smilde, T Schoenmaker, TJ De Vries, ...
    Human gene therapy 33 (15-16), 782-788 , 2022
    2022
    Citations: 20
  • Search for biomarkers and prognostic indicators of liver degeneration in glycogen storage disease type Ia
    R Resaz, D Cangelosi, D Segalerba, M Morini, MC Bosco, S Paci, A Sechi, ...
    Journal of Hepatology 77, S515 , 2022
    2022

MOST CITED SCHOLAR PUBLICATIONS

  • Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1
    YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
    American journal of medical genetics Part A 167 (2), 296-312 , 2015
    2015
    Citations: 721
  • Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2
    DE Neilson, MD Adams, CMD Orr, DK Schelling, RM Eiben, DS Kerr, ...
    The American Journal of Human Genetics 84 (1), 44-51 , 2009
    2009
    Citations: 419
  • Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
    P Gissen, CA Johnson, NV Morgan, JM Stapelbroek, T Forshew, ...
    Nature genetics 36 (4), 400-404 , 2004
    2004
    Citations: 388
  • A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency
    BK Burton, M Balwani, F Feillet, I Barić, TA Burrow, C Camarena Grande, ...
    New England Journal of Medicine 373 (11), 1010-1020 , 2015
    2015
    Citations: 329
  • Guidelines for management of glycogen storage disease type I–European Study on Glycogen Storage Disease Type I (ESGSD I)
    J Rake, G Visser, P Labrune, JV Leonard, K Ullrich, PG Smit
    European Journal of Pediatrics 161 (Suppl 1), S112-S119 , 2002
    2002
    Citations: 295
  • Agenesis of the corpus callosum: clinical and genetic study in 63 young patients
    MF Bedeschi, MC Bonaglia, R Grasso, A Pellegri, RR Garghentino, ...
    Pediatric neurology 34 (3), 186-193 , 2006
    2006
    Citations: 239
  • Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
    AR Cullinane, A Straatman-Iwanowska, A Zaucker, Y Wakabayashi, ...
    Nature genetics 42 (4), 303-312 , 2010
    2010
    Citations: 214
  • Genotype–phenotype correlations and clinical diagnostic criteria in Wolf‐Hirschhorn syndrome
    M Zollino, C Di Stefano, G Zampino, P Mastroiacovo, TJ Wright, G Sorge, ...
    American journal of medical genetics 94 (3), 254-261 , 2000
    2000
    Citations: 210
  • GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
    A Caciotti, SC Garman, Y Rivera-Colón, E Procopio, S Catarzi, L Ferri, ...
    Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790 , 2011
    2011
    Citations: 201
  • Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
    C Le Goff, C Mahaut, A Abhyankar, W Le Goff, V Serre, A Afenjar, ...
    Nature genetics 44 (1), 85-88 , 2012
    2012
    Citations: 192
  • Null leukemia inhibitory factor receptor (LIFR) mutations in Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome
    N Dagoneau, D Scheffer, C Huber, LI Al-Gazali, M Di Rocco, A Godard, ...
    The American Journal of Human Genetics 74 (2), 298-305 , 2004
    2004
    Citations: 192
  • Revised recommendations for the management of Gaucher disease in children
    P Kaplan, H Baris, L De Meirleir, M Di Rocco, A El-Beshlawy, M Huemer, ...
    European journal of pediatrics 172 (4), 447-458 , 2013
    2013
    Citations: 182
  • Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease
    M Biegstraaten, TM Cox, N Belmatoug, MG Berger, T Collin-Histed, ...
    Blood Cells, Molecules, and Diseases 68, 203-208 , 2018
    2018
    Citations: 164
  • Clinical and molecular genetic features of ARC syndrome
    P Gissen, L Tee, CA Johnson, E Genin, A Caliebe, D Chitayat, ...
    Human genetics 120 (3), 396-409 , 2006
    2006
    Citations: 162
  • Clinical features of lysosomal acid lipase deficiency
    BK Burton, PB Deegan, GM Enns, O Guardamagna, S Horslen, ...
    Journal of pediatric gastroenterology and nutrition 61 (6), 619-625 , 2015
    2015
    Citations: 159
  • Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
    E Rossi, F Piccini, M Zollino, G Neri, D Caselli, R Tenconi, C Castellan, ...
    Journal of medical genetics 38 (6), 417-420 , 2001
    2001
    Citations: 158
  • Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
    B Tappino, R Biancheri, M Mort, S Regis, F Corsolini, A Rossi, ...
    Human mutation 31 (12), E1894-E1914 , 2010
    2010
    Citations: 157
  • Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement
    A Pangrazio, PL Poliani, A Megarbane, G Lefranc, E Lanino, M Di Rocco, ...
    Journal of Bone and Mineral Research 21 (7), 1098-1105 , 2006
    2006
    Citations: 150
  • Natural history of vanishing white matter
    EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ...
    Annals of neurology 84 (2), 274-288 , 2018
    2018
    Citations: 145
  • In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
    V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ...
    The American Journal of Human Genetics 91 (5), 950-957 , 2012
    2012
    Citations: 144