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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Neri M, Rossi R, Trabanelli C, et al.
Frontiers in Genetics, 2020, 11, p 131
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
Genotype-phenotype correlations in recessive titinopathies
Savarese M, Vihola A, Oates EC, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
Torella A, Zanobio M, Zeuli R, et al.
PLoS ONE, 2020, 15, 8
A new family with transportinopathy: increased clinical heterogeneity.
Angelini C, Marozzo R, Pinzan E, et al.
Therapeutic advances in neurological disorders, 2019, 12
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
Merlini L, Sabatelli P, Antoniel M, et al.
Skeletal Muscle, 2019, 9, n1, p 14
Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report
D'Ambrosio P, Orsini C, Nigro V, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018, 37, 4, p 272
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Savarese M, Torella A, Musumeci O, et al.
Neuromuscular disorders : NMD, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese M, Maggi L, Vihola A, et al.
JAMA Neurology, 2018, 75, 5, p 557
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report
Fecarotta S, Fecarotta S, Gragnaniello V, et al.
Neuromuscular disorders : NMD, 2018, 28, 11, p 956
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
Sferra A, Baillat G, Rizza T, et al.
American journal of human genetics, 2016, 99, 4, p 974
The Italian Limb Girdle Muscular Dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Magri F, Nigro V, Angelini C, et al.
Muscle & Nerve, 2016, 55, 1, p 55
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Savarese M, Di Fruscio G, Torella A, et al.
Neurology, 2016, 87, 1, p 71
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
Savarese M, Musumeci O, Giugliano T, et al.
Neuromuscular disorders : NMD, 2016, 26, 4-5, p. 292-299
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
Fiorillo C, Astrea G, Savarese M, et al.
Orphanet journal of rare diseases, 2016, 11, 1, p 91
Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects
Nigro V, Piluso G
Biochimica et biophysica acta, 2015, 1852, 4, p 585
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
Savarese M, Di Fruscio G, Tasca G, et al.
Neuromuscular disorders : NMD, 2015, 25, 7, p 533
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
Nigro V, Savarese M
Acta myologica, 2014, 33, 1, p 1
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
Vieira NM, Naslavsky MS, Licinio L, et al.
Human molecular genetics, 2014, 23, 15, p 4103
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
Torella A, Fanin M, Mutarelli M, et al.
PLoS ONE, 2013, 8, 5, e63536, 7 p.
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F
Peterle E, Fanin M, Semplicini C, et al.
Journal of neurology, 2013, 260, 8, p. 2033-2041
Next generation sequencing (NGS) strategies for the genetic testing of myopathies
Nigro V, Piluso G
Acta myologica, 2012, 31, 3, p. 196-200
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy
Bello L, Melacini P, Pezzani R, et al.
European journal of human genetics, 2012, 20, 12, p. 1234-1239
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches
Nigro V, Aurino S, Piluso G
Curr Opin Neurol, 2011, 24, 5, p. 429-436
Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations
Cacciottolo M, Numitone G, Aurino S, et al.
European journal of human genetics, 2011, 19, 9, p. 974-980
