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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
Ricci G, Mele F, Govi M, et al.
Scientific Reports, 2020, 10, 1, p 21648
Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners
Uncini A, Aretusi G, Manganelli F, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy
Ruggiero L, Mele F, Manganelli F, et al.
JAMA network open, 2020, 3, 5
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese A, Zhu Y, Rebelo AP, et al.
Nature genetics, 2020, 52, 5, p 473
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease
Romano R, Rivellini C, De Luca M, et al.
Cellular and molecular life sciences : CMLS, 2020
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
Nikolic A, Jones TI, Govi M, et al.
International Journal of molecular sciences, 2020, 21, 7, p 2635
A 5-year clinical follow-up study from the Italian National Registry for FSHD
Vercelli L, Mele F, Ruggiero L, et al.
Journal of neurology, 2020
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry
Pisciotta C, Calabrese D, Santoro L, et al.
Neurology, 2020
A multicenter retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
Pareyson D, Stojkovic T, Reilly MM, et al.
Annals of neurology, 2019, p 55
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.
Zullo A, Perrotta G, D'Angelo R, et al.
BioMed research international, 2019
Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch Activity Monitor in a 12-month longitudinal study
Pazzaglia C, Pazzaglia C, Padua L, et al.
Neuromuscular disorders : NMD, 2019, 29, 4, p 310
microRNAs as biomarkers in Pompe disease
Tarallo A, Carissimo A, Gatto F, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019, 21, 3, p 591
One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?
Ruggiero L, Ruggiero L, Iodice R, et al.
Therapeutic advances in neurological disorders, 2018, 11
microRNAs as biomarkers in Pompe disease
Tarallo A, Tarallo A, Carissimo A, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Lassuthova P, Rebelo AP, Ravenscroft G, et al.
American journal of human genetics, 2018, 102, 3, p 505
Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients
Tozza S, Bruzzese D, Pisciotta C, et al.
European journal of neurology, 2018, 25, 2, p 301
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
Elevated TGF Beta2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes
Bernasconi P, Carboni N, Ricci G, et al.
Nucleus (Austin, Tex.), 2018, 9, 1, p 292
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry
Nikolic A, Ricci G, Sera F, et al.
BMJ Open, 2016, 6, 1
Nerve conduction velocity in CMT1A: what else can we tell?
Manganelli F, Pisciotta C, Reilly MM, et al.
European journal of neurology, 2016, 23, 10, p 1566
Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch Activity Monitor and identification of the walking features related to higher quality of life
Padua L, Pazzaglia C, Pareyson D, et al.
European journal of neurology, 2016, 23, 8, p 1343
Postural instability in Charcot-Marie-Tooth 1A disease
Tozza S, Aceto MG, Pisciotta C, et al.
Gait & posture, 2016, 49, p 353
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
Ricci G, Ruggiero L, Vercelli L, et al.
Journal of neurology, 2016, 263, 6, p 1204
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
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
