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Neurology, ISSN 0028-3878, 07/2015, Volume 85, Issue 4, pp. 357 - 364
Objective: To develop recommendations for the evaluation, diagnosis, prognostication, and treatment of facioscapulohumeral muscular dystrophy (FSHD) from a... 
ELECTRODIAGNOSTIC MEDICINE | AMERICAN ASSOCIATION | MOLECULAR DIAGNOSIS | D4Z4 | MUTATION | 4Q35 | FSHD | FUNCTIONAL IMPAIRMENT | DNA REARRANGEMENTS | CLINICAL NEUROLOGY | DEVELOPMENT SUBCOMMITTEE
Journal Article
01/2012
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively studied three families (two Indian, one Nepalese) with 12... 
EcoRI | 4q35 | BlnI | facioscapulohumeral dystrophy
Web Resource
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2015, Volume 167, Issue 8, pp. 1836 - 1841
Journal Article
Neurology, ISSN 0028-3878, 2018, Volume 91, Issue 5, pp. E444 - E454
OBJECTIVEAn observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the... 
POPULATION | METHYLATION | PAIN | MUTATION | FSHD | PHENOTYPE | 4Q35 DELETION | ASYMPTOMATIC CARRIERS | D4Z4 REPEAT | CLINICAL NEUROLOGY | FEATURES | 176
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 1 - 8
Subtelomeric macrosatellite repeats are difficult to sequence using conventional sequencing methods owing to the high similarity among repeat units and high GC... 
DIAGNOSIS | ETIOLOGY | ALIGNMENT | MULTIDISCIPLINARY SCIENCES | 4Q35 | FSHD | TOOLKIT | MODEL | DNA REARRANGEMENTS | DUX4 | EXPRESSION | Nucleotide sequence | Heredity | Genomes | Dystrophy | Chromosome 4 | Muscular dystrophy | Bacterial artificial chromosomes
Journal Article
Journal Article
Neurology India, ISSN 0028-3886, 01/2012, Volume 58, Issue 3
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively studied three families (two Indian, one Nepalese) with 12... 
EcoRI | 4q35 | BlnI | facioscapulohumeral dystrophy
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 04/2015, Volume 1852, Issue 4, pp. 607 - 614
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of... 
Facioscapulohumeral muscular dystrophy | DNA methylation | Epigenetics | SMCHD1 | Subtelomeric repeat | DUX4 | MENTAL-RETARDATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | FSHD | PHENOTYPE | BIOPHYSICS | GENE | CHROMOSOME 4Q35 | COATS SYNDROME | D4Z4 | POPULATION ANALYSIS | SEQUENCE | Epigenetic inheritance | Development and progression | Muscular dystrophy
Journal Article
The EMBO Journal, ISSN 0261-4189, 10/2008, Volume 27, Issue 20, pp. 2766 - 2779
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 628 - 635
Journal Article