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1.
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Hum Mol Genet
; 33(8): 698-708, 2024 Apr 08.
Article
in English
| MEDLINE | ID: mdl-38268317
2.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain
; 147(2): 414-426, 2024 02 01.
Article
in English
| MEDLINE | ID: mdl-37703328
3.
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Hum Mol Genet
; 31(5): 748-760, 2022 03 03.
Article
in English
| MEDLINE | ID: mdl-34559225
4.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Clin Genet
; 106(1): 13-26, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38685133
5.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37516995
6.
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
7.
Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies.
Hum Mol Genet
; 29(6): 1030-1043, 2020 04 15.
Article
in English
| MEDLINE | ID: mdl-32083293
8.
MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.
Hum Mol Genet
; 28(3): 476-486, 2019 02 01.
Article
in English
| MEDLINE | ID: mdl-30312408
9.
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Hum Mol Genet
; 27(20): 3488-3497, 2018 10 15.
Article
in English
| MEDLINE | ID: mdl-30281091
10.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
J Med Genet
; 56(12): 828-837, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31676591
11.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
J Med Genet
; 56(10): 693-700, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31243061
12.
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
Am J Hum Genet
; 98(5): 1020-1029, 2016 05 05.
Article
in English
| MEDLINE | ID: mdl-27153398
13.
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
Ann Neurol
; 84(5): 627-637, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30179273
14.
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
J Med Genet
; 55(7): 469-478, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29563141
15.
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.
Clin Genet
; 94(6): 521-527, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30211448
16.
Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation.
Proc Natl Acad Sci U S A
; 112(27): E3535-44, 2015 Jul 07.
Article
in English
| MEDLINE | ID: mdl-26091879
17.
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
18.
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
J Med Genet
; 53(5): 348-55, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26831754
19.
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
Hum Mol Genet
; 23(20): 5342-52, 2014 Oct 15.
Article
in English
| MEDLINE | ID: mdl-24861551
20.
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
Am J Hum Genet
; 93(4): 744-51, 2013 Oct 03.
Article
in English
| MEDLINE | ID: mdl-24075187