Roberta Petillo

@ospedalecardarelli.it

Medical geneticist - Medical and Molecular Genetics Unit
AORN A. Cardarelli, Napoli

Roberta Petillo


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https://researchid.co/ptlrrt87c71f839a

RESEARCH, TEACHING, or OTHER INTERESTS

Genetics (clinical), Neurology (clinical)
27

Scopus Publications

Scopus Publications

  • Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach
    Roberta Petillo, Ilaria De Maggio, Carmelo Piscopo, Massimiliano Chetta, Marina Tarsitano, Luigi Chiriatti, Elvira Sannino, Serena Torre, Marcella D'Antonio, Paola D'Ambrosio, Marco Rambaldi, Maria Cioce, Valentina De Stefano, Maria Rita Parisi, Antonella Telese, Maria Oro, Maria Rivieccio, Francesca Clementina Radio, Cecilia Mancini, Marcello Niceta, Viviana Cordeddu, Alessandro Bruselles, Corrado Mammì, Adele Dattola, Tiziana Fioretti, Gabriella Esposito, Antonio Novelli, Alessandro Tessitore, Alessandra Tessa, Filippo Maria Santorelli, Achille Iolascon, Matteo Della Monica, Marco Tartaglia, Manuela Priolo
    Clinical Genetics, 2025
    Adult patients with undiagnosed genetic disorders suffer most from diagnostic delay and seldom appear in cohort studies investigating the diagnostic yield in medical genetic clinical practice. Here we present the results of the diagnostic activity performed in a referral center on 654 consecutive, unselected adult subjects presenting with molecularly unsolved conditions. More than 50% of the referred individuals were affected by syndromic or isolated intellectual disability. Different molecular approaches, including clinical/whole exome sequencing (CES/WES), chromosomal microarray analysis (CMA), and/or targeted gene or gene panel sequencing were used to analyze patients' DNA. Definitive diagnosis was obtained in over 30% of individuals. The most sensitive methodology was CES/WES, which allowed us to reach a diagnosis in over 50% of the 162 solved cases. Despite the great variety of clinical presentations, our results represent a reliable picture of the “real world” daily routine in an outpatient medical genetics clinic dedicated to diagnostic activity, and contribute to better understand the great value of a definitive molecular diagnosis in adults, either for the affected individuals and their families. This retrospective analysis demonstrates the importance of adopting a genomic‐first approach within the diagnostic process for adults affected with unsolved rare conditions.
  • Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
    Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, and
    Clinical Epigenetics, 2024
    BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus proved to be an effective method to detect epigenetic signatures compatible with FSHD. The present study aims at validating the employment of this method into clinical practice and improving the protocol by refining the classification thresholds of 4qA/4qA patients. To this purpose, 218 subjects with clinical suspicion of FSHD collected in 2022-2023 were analyzed. Each participant underwent in parallel the traditional FSHD molecular testing (D4Z4 sizing) and the proposed methylation assay. The results provided by both analyses were compared to evaluate the concordance and calculate the performance metrics of the methylation test. RESULTS: Among the 218 subjects, the 4q variant type distribution was 54% 4qA/4qA, 43% 4qA/4qB and 3% 4qB/4qB. The methylation analysis was performed only on carriers of at least one 4qA allele. After refining the classification threshold, the test reached the following performance metrics: sensitivity = 0.90, specificity = 1.00 and accuracy = 0.93. These results confirmed the effectiveness of the methylation assay in identifying patients with genetic signature compatible with FSHD1 and FSHD2 based on their DUX4-PAS and DR1 profile, respectively. The methylation data were also evaluated with respect to the clinical information. CONCLUSIONS: The study confirmed the ability of the method to accurately identify methylation profiles compatible with FSHD genetic signatures considering the 4q genotype. Moreover, the test allows the detection of hypomethylated profiles in asymptomatic patients, suggesting its potential application in identifying preclinical conditions in patients with positive family history and FSHD genetic signatures. Furthermore, the present work emphasizes the importance of interpreting methylation profiles considering the patients' clinical data.
  • Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
    Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito
    Biomedicines, 2024
    Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the identification of the genetic defect allows the correct classification. In the attempt to molecularly classify 17 unrelated Italian patients referred with congenital nonsyndromic ichthyosis, we performed massively parallel sequencing of over 50 ichthyosis-related genes. Genetic data of 300 Italian unaffected subjects were also analyzed to evaluate frequencies of putative disease-causing alleles in our population. For all patients, we identified the molecular cause of the disease. Eight patients were affected by autosomal recessive congenital ichthyosis associated with ALOX12B, NIPAL4, and TGM1 mutations. Three patients had biallelic loss-of-function variants in FLG, whereas 6/11 males were affected by X-linked ichthyosis. Among the 24 different disease-causing alleles we identified, 8 carried novel variants, including a synonymous TGM1 variant that resulted in a splicing defect. Moreover, we generated a priority list of the ichthyosis-related genes that showed a significant number of rare and novel variants in our population. In conclusion, our comprehensive molecular analysis resulted in an effective first-tier test for the early classification of ichthyosis patients. It also expands the genetic, mutational, and phenotypic spectra of inherited ichthyosis and provides new insight into the current understanding of etiologies and epidemiology of this group of rare disorders.
  • Interatrial block as a first clinical presentation of atrial cardiomyopathy related to a novel LMNA variant: a case report
    Michele Iavarone, Simona Covino, Roberta Petillo, Vincenzo Russo
    European Heart Journal Case Reports, 2023
    Background Interatrial block (IAB) is a conduction delay in Bachmann’s bundle with a well-described association with structural heart disease, supraventricular arrhythmias, and cardiovascular events. Case summary We report the case of an asymptomatic 35-year-old man in whom the presence of IAB at electrocardiogram led to a comprehensive evaluation including speckle-tracking echocardiography, 24 h Holter monitoring, and genetic testing. Speckle-tracking echocardiography demonstrated a decrease in the longitudinal strain of interventricular septum, a typical feature of LMNA-related cardiomyopathy, and decreased indices of left atrial deformation. A diagnosis of cardiac laminopathy related to the frame shift variant c.1367 (p.Asn456Thrfs*24) of the LMNA gene was made. A dual-chamber implantable cardioverter defibrillator implantation was performed for the high risk of life-threatening ventricular tachyarrhythmias. Discussion This case demonstrates that IAB could be a rare presentation of a life-threatening laminopathy. Strain echocardiography is an essential tool to evaluate the deposition of fibrosis tissue in subclinical cardiomyopathies. Our report describes a novel variant of LMNA gene associated with a high risk of sudden cardiac death.
  • Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1
    M. Scutifero, M. Lanza, R. Petillo, Maddalena De Bernardo, L. Passamano, N. Rosa, L. Politano
    Acta Myologica, 2022
    Myotonic Dystrophy type 1 (DM1) is the most common muscular dystrophy in adults, affecting 1:8000 individuals. It is a multi-systemic disorder involving muscle, heart, endocrine and respiratory apparatus and eye. The eye symptoms can include ptosis, external ophthalmoplegia, epiphora, and early onset cataracts. Cataracts occur at a much earlier age (usually between 30 and 40) than the general population, where females are usually affected more than men. We studied gender differences in cataract prevalence and treatment age in 243 DM1 patients (134 M; 109 F), aged 18 to 70 years, who were subsequently screened at routine follow-up. For each patient, information was collected on age, sex, CTG expansion, age of cataract onset, and age at cataract surgery, when available. Seventy-three patients, 30 females and 43 males, had cataracts, at a mean age of onset of 41.14 ± 12.64 in females, and 40.36 ± 10.03 in males. Sixty-nine of them underwent cataract surgery, males at an earlier age than females (42.8 ± 9.8 years versus 47.3 ± 12.6 years) and in 52.5% of cases before the age of 40, compared to 17.2% of females. The difference was statistically significant. The assumption that females in general and those with DM1 in particular develop cataracts more frequently and earlier than males is not confirmed, at least in this study. A possible explanation for these results could be related to non-advanced age, the protective role of estrogen and the lower prevalence of smoking in the study population.
  • De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review
    Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo
    Pediatric Reports, 2022
    Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed. The patient was a 6-year-old Caucasian female. In the family history there was no intellectual disability or genetic conditions. Auxological parameters at birth were adequate for gestational age. Clinical evaluation at 6 months revealed hypotonia and, successively, delay in the acquisition of the stages of psychomotor development. Auditory, visual, somatosensory, and motor-evoked potentials were normal. A brain MRI, performed at 9 months, showed minimal gliotic changes in bilateral occipital periventricular white matter. Neuropsychiatric control, performed at 5 years, established a definitive diagnosis of childhood autism and developmental delay. Molecular analysis of the exome revealed a novel KMT2C missense variant: c.9244C > T (p.Pro3082Ser) at a heterozygous state, giving her a diagnosis of Kleefstra syndrome 2. Parents did not show the variant. Literature review (four retrieved eligible studies, 10 patients) showed that all individuals had mild, moderate, or severe ID; language and motor delay; and autism. Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. This study suggests that it must be taken in account in the work-up of an orphan diagnosis of intellectual disability and/or autism spectrum disorder.
  • The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution
    Alberto Palladino, Andrea Antonio Papa, Roberta Petillo, Marianna Scutifero, Salvatore Morra, Luigia Passamano, Vincenzo Nigro, Luisa Politano
    Genes, 2022
    Progressive cardiac conduction disease (PCCD) is a relatively common condition in young and elderly populations, related to rare mutations in several genes, including SCN5A, SCN1B, LMNA and GJA5, TRPM4. Familial cases have also been reported. We describe a family with a large number of individuals necessitating pacemaker implantation, likely due to varying degrees of PCCD. The proband is a 47-year-old-patient, whose younger brother died at 25 years of unexplained sudden cardiac death. Three paternal uncles needed a pacemaker (PM) implantation between 40 and 65 years for unspecified causes. At the age of 42, he was implanted with a PM for two episodes of syncope and the presence of complete atrioventricular block (AVB). NGS analysis revealed the missense variation c. 2351G>A, p.Gly844Asp in the exon 17 of the TRPM4 gene. This gene encodes the TRPM4 channel, a calcium-activated nonselective cation channel of the transient receptor potential melastatin (TRPM) ion channel family. Variations in TRPM4 have been shown to cause an increase in cell surface current density, which results in a gain of gene function. Our report broadens and supports the causative role of TRPM4 gene mutations in PCCD. Genetic screening and identification of the causal mutation are critical for risk stratification and family counselling.
  • CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
    Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano
    Frontiers in Neurology, 2020
    Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1. According to the pattern of inheritance, two distinct clinical forms have been described, Thomsen disease, inherited as an autosomal dominant trait and Becker disease inherited as an autosomal recessive trait. We report genetic and clinical data concerning 19 patients−13 familial and six isolated cases—all but one originating from the Campania Region, in southern Italy. Twelve patients (63.2%) present Becker type myotonia and 7 (36.8%) Thomsen type. Sex ratio M:F in Becker type is 6:6, while in Thomsen myotonia 4:3. The age of onset of the disease ranged from 2 to 15 years in Becker patients, and from 4 to 20 years in Thomsen. Overall 18 mutations were identified, 10 located in the coding part of the gene (exons 1, 3, 4, 5, 7, 8, 13, 15, 21, 22), and four in the intron part (introns 1, 2, 10, 18). All the exon mutations but two were missense mutations. Some of them, such as c.2551 G > A, c.817G > A and c.86A > C recurred more frequently. About 70% of mutations was inherited with an autosomal recessive pattern, two (c.86A and c.817G>A) with both mechanisms. Three novel mutations were identified, never described in the literature: p.Gly276Ser, p.Phe486Ser, and p.Gln812*, associated with Becker phenotype. Furthermore, we identified three CLCN1 mutations—c.86A>C + c.2551G > A, c.313C > T + c.501C > G and 899G > A + c.2284+5C > T, two of them inherited in cis on the same allele, in three unrelated families. The concomitant occurrence of both clinical pictures—Thomsen and Becker—was observed in one family. Intra-familial phenotypic variability was observed in two families, one with Becker phenotype, and one with Thomsen disease. In the latter an incomplete penetrance was hypothesized.
  • Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: Results of a phase IIb double-blind study of salbutamol
    Francesco Danilo Tiziano, Rosa Lomastro, Emanuela Abiusi, Maria Barbara Pasanisi, Lorena Di Pietro, Stefania Fiori, Giovanni Baranello, Corrado Angelini, Gianni Sorarù, Alessandra Gaiani, Tiziana Mongini, Liliana Vercelli, Eugenio Mercuri, Gessica Vasco, Marika Pane, Giuseppe Vita, Gianluca Vita, Sonia Messina, Roberta Petillo, Luigia Passamano, Luisa Politano, Angela Campanella, Renato Mantegazza, Lucia Morandi
    Journal of Medical Genetics, 2019
    BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, due to the loss of function of the survival motor neuron (SMN1) gene. The first treatment for the condition, recently approved, is based on the reduction of exon 7 skipping in mRNAs produced by a highly homologous gene (SMN2). The primary objective of the present study was to evaluate the applicability of the dosage of SMN gene produts in blood, as biomarker for SMA, and the safety of oral salbutamol, a beta2-adrenergic agonist modulating SMN2 levels.MethodsWe have performed a 1-year multicentre, double-blind, placebo-controlled study with salbutamol in 45 adult patients with SMA. Patients assumed 4 mg of salbutamol or placebo/three times a day. Molecular tests were SMN2 copy number, SMN transcript and protein levels. We have also explored the clinical effect, by the outcome measures available at the time of study design.ResultsThirty-six patients completed the study. Salbutamol was safe and well tolerated. We observed a significant and progressive increase in SMN2 full-length levels in peripheral blood of the salbutamol-treated patients (p<0.00001). The exploratory analysis of motor function showed an improvement in most patients.ConclusionsOur data demonstrate safety and molecular efficacy of salbutamol. We provide the first longitudinal evaluation of SMN levels (both transcripts and protein) in placebo and in response to a compound modulating the gene expression: SMN transcript dosage in peripheral blood is reliable and may be used as pharmacodynamic marker in clinical trials with systemic compounds modifying SMN2levels.Trial registration numberEudraCT no. 2007-001088-32.
  • Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies
    Acta Myologica, 2019
  • Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD
    Raffaella Cascella, Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Valeria Errichiello, Marianna Scutifero, Roberta Petillo, Gian Luca Marella, Mauro Arcangeli, Luca Colantoni, Stefania Zampatti, Enzo Ricci, Giancarlo Deidda, Luisa Politano, Emiliano Giardina
    Frontiers in Neurology, 2018
  • The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel
    Concetta Altamura, Sabrina Lucchiari, Dalila Sahbani, Gianna Ulzi, Giacomo P. Comi, Paola D'Ambrosio, Roberta Petillo, Luisa Politano, Liliana Vercelli, Tiziana Mongini, Maria Teresa Dotti, Rosanna Cardani, Giovanni Meola, Mauro Lo Monaco, Emma Matthews, Michael G. Hanna, Maria Rosaria Carratù, Diana Conte, Paola Imbrici, Jean-François Desaphy
    Human Mutation, 2018
  • Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
    Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D’Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D’Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri
    Plos One, 2018
  • Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report
    Acta Myologica, 2017
  • Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
    Adele D'Amico, Michela Catteruccia, Giovanni Baranello, Luisa Politano, Alessandra Govoni, Stefano Carlo Previtali, Marika Pane, Maria Grazia D'Angelo, Claudio Bruno, Sonia Messina, Federica Ricci, Elena Pegoraro, Antonella Pini, Angela Berardinelli, Ksenjia Gorni, Roberta Battini, Gianluca Vita, Federica Trucco, Marianna Scutifero, Roberta Petillo, Paola D'Ambrosio, Anna Ardissone, Barbara Pasanisi, Giuseppe Vita, Tiziana Mongini, Maurizio Moggio, Giacomo Pietro Comi, Eugenio Mercuri, Enrico Bertini
    Neuromuscular Disorders, 2017
  • Brachydactyly type E in an Italian family with 6p25 trisomy
    Paolo Fontana, Cristina Tortora, Roberta Petillo, Michela Malacarne, Simona Cavani, Martina Miniero, Paola D'Ambrosio, Davide De Brasi, Maria Antonietta Pisanti
    European Journal of Medical Genetics, 2017
  • Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series
    Andrea Antonio Papa, Paola D'Ambrosio, Roberta Petillo, Alberto Palladino, Luisa Politano
    Intractable and Rare Diseases Research, 2017
  • Management of cardiac involvement in muscular dystrophies: Paediatric versus adult forms
    Acta Myologica, 2016
  • A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features
    Paolo Fontana, Cristina Tortora, Roberta Petillo, Mariateresa Falco, Martina Miniero, Davide De Brasi, Maria Antonietta Pisanti
    American Journal of Medical Genetics Part A, 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
  • Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study
    Elena S. Mazzone, Giorgia Coratti, Maria Pia Sormani, Sonia Messina, Marika Pane, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Angela Berardinelli, Alice Gardani, Valentina Lanzillotta, Paola D’Ambrosio, Roberta Petillo, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Nicola Forcina, Francesca Magri, Gianluca Vita, Concetta Palermo, Maria Alice Donati, Elena Procopio, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Yvan Torrente, Stefano C. Previtali, Claudio Bruno, Luisa Politano, Giacomo P. Comi, Maria Grazia D’Angelo, Enrico Bertini, Eugenio Mercuri
    Plos One, 2016
  • Novel mutations in LMNA A/C gene and associated phenotypes
    Acta Myologica Myopathies and Cardiomyopathies Official Journal of the Mediterranean Society of Myology, 2015
  • Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test
    Marika Pane, Lavinia Fanelli, Elena Stacy Mazzone, Giorgia Olivieri, Adele D'Amico, Sonia Messina, Marianna Scutifero, Roberta Battini, Roberta Petillo, Silvia Frosini, Serena Sivo, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Elena Pegoraro, Roberto De Sanctis, Alice Gardani, Angela Berardinelli, Valentina Lanzillotta, Adelina Carlesi, Emanuela Viggiano, Filippo Cavallaro, Maria Sframeli, Luca Bello, Andrea Barp, Flaviana Bianco, Serena Bonfiglio, Enrica Rolle, Concetta Palermo, Grazia D'Angelo, Antonella Pini, Elena Iotti, Ksenija Gorni, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri
    Neuromuscular Disorders, 2015
  • Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene
    Acta Myologica, 2015
  • Prevalence of congenital muscular dystrophy in Italy: A population study
    Alessandra Graziano, Flaviana Bianco, Adele D'Amico, Isabella Moroni, Sonia Messina, Claudio Bruno, Elena Pegoraro, Marina Mora, Guja Astrea, Francesca Magri, Giacomo P. Comi, Angela Berardinelli, Maurizio Moggio, Lucia Morandi, Antonella Pini, Roberta Petillo, Giorgio Tasca, Mauro Monforte, Carlo Minetti, Tiziana Mongini, Enzo Ricci, Ksenija Gorni, Roberta Battini, Marcello Villanova, Luisa Politano, Francesca Gualandi, Alessandra Ferlini, Francesco Muntoni, Filippo Maria Santorelli, Enrico Bertini, Marika Pane, Eugenio Mercuri
    Neurology, 2015
  • The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys
    Marika Pane, Elena Stacy Mazzone, Serena Sivo, Lavinia Fanelli, Roberto De Sanctis, Adele D’Amico, Roberta Battini, Flaviana Bianco, Marianna Scutifero, Roberta Petillo, Silvia Frosini, Roberta Scalise, Gian Luca Vita, Claudio Bruno, Marina Pedemonte, Tiziana Mongini, Elena Pegoraro, Francesca Brustia, Alice Gardani, Angela Berardinelli, Valentina Lanzillotta, Emanuela Viggiano, Filippo Cavallaro, Maria Sframeli, Luca Bello, Andrea Barp, Serena Bonfiglio, Enrica Rolle, Giulia Colia, Annamaria Bonetti, Concetta Palermo, Alessandra Graziano, Grazia D’Angelo, Antonella Pini, Alice Corlatti, Ksenija Gorni, Giovanni Baranello, Laura Antonaci, Enrico Bertini, Luisa Politano, Eugenio Mercuri
    Plos Currents, 2014
  • Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy
    Marika Pane, Elena S. Mazzone, Lavinia Fanelli, Roberto De Sanctis, Flaviana Bianco, Serena Sivo, Adele D’Amico, Sonia Messina, Roberta Battini, Marianna Scutifero, Roberta Petillo, Silvia Frosini, Roberta Scalise, Gianluca Vita, Claudio Bruno, Marina Pedemonte, Tiziana Mongini, Elena Pegoraro, Francesca Brustia, Alice Gardani, Angela Berardinelli, Valentina Lanzillotta, Emanuela Viggiano, Filippo Cavallaro, Maria Sframeli, Luca Bello, Andrea Barp, Serena Bonfiglio, Enrica Rolle, Giulia Colia, Michela Catteruccia, Concetta Palermo, Grazia D’Angelo, Antonella Pini, Elena Iotti, Ksenija Gorni, Giovanni Baranello, Lucia Morandi, Enrico Bertini, Luisa Politano, MariaPia Sormani, Eugenio Mercuri
    Neuromuscular Disorders, 2014