Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
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
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy
Galimberti V, Tironi R, Lerario A, et al.
European journal of neurology, 2019
Expanding the central nervous system disease spectrum associated with FLNC mutation
Previtali SC, Previtali SC, Scarlato M, et al.
Muscle & Nerve, 2019, 59, 3
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI
Saredi S, Gibertini S, Matalonga L, et al.
Neuromuscular disorders : NMD, 2019, 29, 5, p 376
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene
Marchet S, Marchet S, Invernizzi F, et al.
Mitochondrion, 2019, 47, p 24
Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis
Zanotti S, Zanotti S, Gibertini S, et al.
Matrix biology : journal of the International Society for Matrix Biology, 2018
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
Böhm J, Lornage X, Chevessier F, et al.
Acta neuropathologica, 2018, 135, 1, p 149
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
Test of Antifibrotic Drugs in a Cellular Model of Fibrosis Based on Muscle-Derived Fibroblasts from Duchenne Muscular Dystrophy Patients
Zanotti S, Mora M
Methods in molecular biology, 2018, 1687, p 205
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Osborn DP, Pond HL, Mazaheri N, et al.
American journal of human genetics, 2017, 100, 3, p 537
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
Osborn DPS, Pond HL, Mazaheri N, et al.
American journal of human genetics, 2017, 100, 3, p 537
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis?acting DNA elements that govern muscle dystrophin expression
Gherardi S, Bovolenta M, Passarelli C, et al.
Biochimica et biophysica acta, 2017, 1860, 11, p 1138
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
Böhm J, Bulla M, Urquhart JE, et al.
Human mutation, 2017, 38, 4, p 426
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies
Ruggieri A, Saredi S, Zanotti S, et al.
Frontiers in molecular biosciences, 2016, 3
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
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
Gang Q, Bettencourt C, Machado PM, et al.
Neurobiology of aging, 2016, 47, p 218.e1
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
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
Ripolone M, Ronchi D, Violano R, et al.
JAMA Neurology, 2015, Epub
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
Ruggieri A, Brancati F, Zanotti S, et al.
Acta neuropathologica communications, 2015, 3
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Mora M, Angelini C, Bignami F, et al.
European journal of human genetics : EJHG, 2015, 23, 9, p 1116
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Di Blasi C, Sansanelli S, Ruggieri A, et al.
Journal of medical genetics, 2015, 52, 9, p 617
Prevalence of congenital muscular dystrophy in Italy : A population study
Graziano A, Bianco F, D'Amico A, et al.
Neurology, 2015, 84, 9, p 904
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
Baranello G, Saredi S, Sansanelli S, et al.
Neuromuscular disorders : NMD, 2015, 25, 1, p 55
