Free Access
Issue
Med Sci (Paris)
Volume 38, Number 13, Decembre 2022
Les Cahiers de Myologie
Page(s) 52 - 54
Section Fiche pratique
DOI https://doi.org/10.1051/medsci/2022184
Published online 16 January 2023
  1. Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 2006 ; 34 : 1–15. [Google Scholar]
  2. Goselink RJM, Schreuder THA, van Alfen N, et al. Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study. Ann Neurol 2018 ; 84 : 627–637. [CrossRef] [PubMed] [Google Scholar]
  3. Dorobek M, van der Maarel SM, Lemmers RJ, et al. Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features. J Child Neurol 2015 ; 30 : 580–587. [CrossRef] [PubMed] [Google Scholar]
  4. Klinge L, Eagle M, Haggerty ID, et al. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2006 ; 16 : 553–558. [Google Scholar]
  5. Deenen JC, Arnts H, van der Maarel SM, et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 2014 ; 83 : 1056–1059. [Google Scholar]
  6. van Deutekom JC, Wijmenga C, van Tienhoven EA, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993 ; 2 : 2037–2042. [CrossRef] [PubMed] [Google Scholar]
  7. Wijmenga C, Sandkuijl LA, Moerer P, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am J Hum Genet 1992 ; 51 : 411–415. [PubMed] [Google Scholar]
  8. Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992 ; 2 : 26–30. [Google Scholar]
  9. Sarfarazi M, Wijmenga C, Upadhyaya M, et al. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 1992 ; 51 : 396–403. [PubMed] [Google Scholar]
  10. van Overveld PG, Lemmers RJ, Sandkuijl LA, et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. 2003; 35 : 315–317. [Google Scholar]
  11. Roche S, Dion C, Broucqsault N, et al. Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. Neurol Genet 2019 ; 5 : e372. [Google Scholar]
  12. de Greef JC, Lemmers RJ, Camano P, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010 ; 75 : 1548–1554. [Google Scholar]
  13. Lemmers RJ, Tawil R, Petek LM, et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012 ; 44 : 1370–1374. [Google Scholar]
  14. Lemmers RJ, Goeman JJ, van der Vliet PJ, et al. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Hum Mol Genet 2015 ; 24 : 659–669. [CrossRef] [PubMed] [Google Scholar]
  15. Sacconi S, Lemmers RJ, Balog J, et al. The FSHD2 Gene SMCHD1 Is a modifier of disease severity in families affected by FSHD1. Am J Hum Genet 2013 ; 93 : 744–751. [CrossRef] [PubMed] [Google Scholar]
  16. Lemmers RJ, van der Vliet PJ, Klooster R, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010 ; 329 : 1650–1653. [Google Scholar]
  17. Lemmers RJ, Wohlgemuth M, van der Gaag KJ, et al. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007 ; 81 : 884–894. [CrossRef] [PubMed] [Google Scholar]
  18. Nguyen K, Walrafen P, Bernard R, et al. Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy. 2011 ; 70 : 4 627–633. [Google Scholar]
  19. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 ; 17 : 405–424. [CrossRef] [PubMed] [Google Scholar]
  20. Roche S, Dion C, Broucqsault N, et al. Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. Neurol Genet 2019 ; 5 : e372. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.