A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes-Reference-Cited by-同舟云学术

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A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Published:2016-04-28 Issue:6 Volume:263 Page:1204-1214
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Ricci Giulia,Ruggiero Lucia,Vercelli Liliana,Sera Francesco,Nikolic Ana,Govi Monica,Mele Fabiano,Daolio Jessica,Angelini Corrado,Antonini Giovanni,Berardinelli Angela,Bucci Elisabetta,Cao Michelangelo,D’Amico Maria Chiara,D’Angelo Grazia,Di Muzio Antonio,Filosto Massimiliano,Maggi Lorenzo,Moggio Maurizio,Mongini Tiziana,Morandi Lucia,Pegoraro Elena,Rodolico Carmelo,Santoro Lucio,Siciliano Gabriele,Tomelleri Giuliano,Villa Luisa,Tupler Rossella

Funder

Telethon Italy

Association Francaise contre les Myopathies

Regione Emilia Romagna

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-016-8123-2.pdf

Reference24 articles.

1. Lunt PW, Jardine PE, Koch MC et al (1995) Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 4:951–958

2. Padberg GW, Lunt PW, Koch M, Fardeau M (1991) Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1:231–234

3. Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJ, van der Maarel SM, Tawil R (2015) Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats. Neurology 85:2147–2150

4. Wijmenga C, Hewitt JE, Sandkuijl LA et al (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2:26–30

5. Lemmers RJ, Goeman JJ, van der Vliet PJ et al (2015) Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Hum Mol Genet 24:659–669

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1. Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I;2024-09-12

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