Search details
1.
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
J Med Genet
; 59(2): 180-188, 2022 02.
Article
in English
| MEDLINE | ID: mdl-33436523
2.
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Genet Med
; 21(5): 1199-1208, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30287925
3.
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.
Clin Genet
; 94(6): 521-527, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30211448
4.
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Hum Mol Genet
; 24(3): 659-69, 2015 Feb 01.
Article
in English
| MEDLINE | ID: mdl-25256356
5.
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.
PLoS Genet
; 9(4): e1003415, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23593020
6.
What's in a name? The clinical features of facioscapulohumeral muscular dystrophy.
Pract Neurol
; 16(3): 201-7, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-26862222
7.
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
BMC Neurol
; 13: 144, 2013 Oct 11.
Article
in English
| MEDLINE | ID: mdl-24119284
8.
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
Nat Genet
; 35(4): 315-7, 2003 Dec.
Article
in English
| MEDLINE | ID: mdl-14634647
9.
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Nat Genet
; 32(2): 235-6, 2002 Oct.
Article
in English
| MEDLINE | ID: mdl-12355084
10.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Nat Genet
; 55(7): 1149-1163, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37386251
11.
Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial.
BMC Neurol
; 10: 56, 2010 Jun 30.
Article
in English
| MEDLINE | ID: mdl-20591139
12.
Facioscapulohumeral muscular dystrophy.
Curr Opin Neurol
; 22(5): 539-42, 2009 Oct.
Article
in English
| MEDLINE | ID: mdl-19724227
13.
Ophthalmological findings in facioscapulohumeral dystrophy.
Brain Commun
; 1(1): fcz023, 2019.
Article
in English
| MEDLINE | ID: mdl-32954265
14.
Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.
Neurology
; 92(4): e378-e385, 2019 01 22.
Article
in English
| MEDLINE | ID: mdl-30568007
15.
Facioscapulohumeral muscular dystrophy.
Biochim Biophys Acta
; 1772(2): 186-94, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-16837171
16.
Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.
Am J Med Genet B Neuropsychiatr Genet
; 147(3): 294-300, 2008 Apr 05.
Article
in English
| MEDLINE | ID: mdl-17886254
17.
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study.
Neuromuscul Disord
; 28(11): 938-946, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30342904
18.
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.
Neurology
; 91(5): e444-e454, 2018 07 31.
Article
in English
| MEDLINE | ID: mdl-29997197
19.
A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy.
Eur J Paediatr Neurol
; 22(5): 782-785, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-29753614
20.
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.
Neuromuscul Disord
; 27(12): 1077-1083, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29102079