Deenen & al., « Population-based incidence and prevalence of facioscapulohumeral dystrophy », Neurology, , p. 83(12):1056-9 (lire en ligne)
Scully & al., « Restrictive lung involvement in facioscapulohumeral muscular dystrophy », Muscle & nerve, , p. 50(5):739-43 (lire en ligne)
Klinge & al., « Severe phenotype in infantile facioscapulohumeral muscular dystrophy », Neuromuscular disorders, , p. 16(9-10):553-8 (lire en ligne)
Goselink & al., « Facioscapulohumeral dystrophy in children », BMC Neurology, , p. 16:138 (lire en ligne)
Nicolik & al., « Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles », BMJ open, (lire en ligne)
Lemmers / Van der Maarel, « Facioscapulohumeral Muscular Dystrophy », GeneReviews, (lire en ligne)
L.Féasson, « Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy », Medicine Baltimore, (lire en ligne)
(en) AD.Cooney, « The outcome of scapulothoracic arthrodesis using cerclage wires, plates, and allograft for facioscapulohumeral dystrophy », Journal of Shoulder and Elbow Surgery, (lire en ligne)
C.Wijmenga, « Location of FSH muscular dystrophy gene on chromosome 4 », Lancet, (lire en ligne)
R.Tupler, « Molecular basis of facioscapulohumeral muscular dystrophy », Cellular and Molecular Life Sciences, (lire en ligne)
(en) F.Helmbacher, « Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of FSH dystrophy », PloS Genetics, (lire en ligne)
(en) A.Belayew, « Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element », Gene, (lire en ligne)
J.Vasale, « Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD », Neuromuscular disordres, (lire en ligne)
(en) Lemmers & al., « Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 », Nature Genetics, (lire en ligne)
(en) S. van der Maarel, « Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of FSH Dystrophy », American journal of human genetics, (lire en ligne)
(en) J.Dumonceaux, « Antisense targeting of 3' end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for FSH dystrophy: a new gene-silencing approach. », Human molecular genetics, (lire en ligne)
(en) PL.Jones, « CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy », Molecular therapy, (lire en ligne)
(en) R.Tawil, « Randomized, double-blind, placebo-controlled trial of albuterol in FSH dystrophy », Neurology, (lire en ligne)
C.Desnuelles, « The possible place of autologus cell therapy in FSH muscular dystrophy », Bulletin de l'Académie nationale de médecine, (lire en ligne)
(en) D.Laoudj-Chenivesse, « Effects of vitamin C, vitamin E, zinc gluconate, and selenomethionine supplementation on muscle function and oxidative stress biomarkers in patients with FSH dystrophy: a double-blind randomized controlled clinical trial », Free radical biology & medicine, (lire en ligne)
