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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
DEVELOPMENTAL CELL, ISSN 1534-5807, 01/2012, Volume 22, Issue 1, pp. 38 - 51
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited muscular dystrophies. The causative gene remains controversial and the mechanism of... 
HUMAN BETA-DEFENSIN-3 | MUSCULAR-DYSTROPHY | MUSCLE | FSHD | DEVELOPMENTAL BIOLOGY | ANTIMICROBIAL PEPTIDES | CANDIDATE GENE | BETA-DEFENSIN 3 | EXPRESSION | HOMEOBOX GENES | FAMILY | CELL BIOLOGY
Journal Article
Disability and Rehabilitation, ISSN 0963-8288, 08/2017, Volume 39, Issue 18, pp. 1840 - 1846
Journal Article
BMJ Open, ISSN 2044-6055, 01/2016, Volume 6, Issue 1, p. e007798
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 08/2019, Volume 61, Issue 8, pp. 964 - 971
Aim To explore the clinical course of patients presenting with facioscapulohumeral dystrophy type 1 (FSHD1) in childhood, with a view to identifying areas... 
HEARING-LOSS | SMCHD1 | PAIN | MENTAL-RETARDATION | DISEASE | FSHD | PHENOTYPE | PEDIATRICS | EPILEPSY | INHERITANCE | CLINICAL NEUROLOGY | INSIGHTS
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2018, Volume 94, Issue 6, pp. 521 - 527
To determine how much of the clinical variability in facioscapulohumeral muscular dystrophy type 1 (FSHD1) can be explained by the D4Z4 repeat array size, D4Z4... 
phenotype | disease modifiers | facioscapulohumeral muscular dystrophy (FSHD) | epigenetics | genotype | CLINICAL-TRIAL | FSHD | D4Z4 REPEAT | DUX4 | DELETION | PENETRANCE | SMCHD1 | GENE | FAMILIES | GENETICS & HEREDITY | SEVERITY | Epigenetic inheritance | Genetic aspects | Muscular dystrophy | Phenotypes | Magnetic resonance imaging | Dystrophy | Methylation | Genotypes | Genetic screening
Journal Article
Muscle & nerve, ISSN 0148-639X, 12/2015, Volume 52, Issue 6, pp. 948 - 955
Journal Article
Free Radical Biology and Medicine, ISSN 0891-5849, 09/2012, Volume 53, Issue 5, pp. 1068 - 1079
Journal Article
Neurology, ISSN 0028-3878, 07/2018, 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
European Journal of Paediatric Neurology, ISSN 1090-3798, 09/2018, Volume 22, Issue 5, pp. 782 - 785
To assess the long-term natural course of early-onset facioscapulohumeral dystrophy (FSHD), which is important for patient management and trial-readiness, and... 
Infantile FSHD | Facioscapulohumeral dystrophy | Early-onset FSHD | Neuromuscular disorders | Natural history | DIAGNOSIS | MUSCULAR-DYSTROPHY | PHENOTYPE | PEDIATRICS | CLINICAL NEUROLOGY | Muscular Dystrophy, Facioscapulohumeral - complications | Phenotype | Follow-Up Studies | Humans | Middle Aged | Adolescent | Age of Onset | Adult | Female | Male
Journal Article
Journal of Computer-Mediated Communication, ISSN 1083-6101, 01/2019, Volume 24, Issue 1, pp. 36 - 50
Journal Article