141 related articles for article (PubMed ID: 36336708)
21. Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.
Jia FF; Drew AP; Nicholson GA; Corbett A; Kumar KR
Neuromuscul Disord; 2021 Nov; 31(11):1101-1112. PubMed ID: 34711481
[TBL] [Abstract][Full Text] [Related]
22. [Facioscapulohumeral muscular dystrophy type 2].
Sacconi S; Desnuelle C
Rev Neurol (Paris); 2013; 169(8-9):564-72. PubMed ID: 23969240
[TBL] [Abstract][Full Text] [Related]
23. A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.
Sasaki-Honda M; Jonouchi T; Arai M; Hotta A; Mitsuhashi S; Nishino I; Matsuda R; Sakurai H
Hum Mol Genet; 2018 Dec; 27(23):4024-4035. PubMed ID: 30107443
[TBL] [Abstract][Full Text] [Related]
24. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
Jones TI; King OD; Himeda CL; Homma S; Chen JC; Beermann ML; Yan C; Emerson CP; Miller JB; Wagner KR; Jones PL
Clin Epigenetics; 2015; 7(1):37. PubMed ID: 25904990
[TBL] [Abstract][Full Text] [Related]
25. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.
Krom YD; Thijssen PE; Young JM; den Hamer B; Balog J; Yao Z; Maves L; Snider L; Knopp P; Zammit PS; Rijkers T; van Engelen BG; Padberg GW; Frants RR; Tawil R; Tapscott SJ; van der Maarel SM
PLoS Genet; 2013 Apr; 9(4):e1003415. PubMed ID: 23593020
[TBL] [Abstract][Full Text] [Related]
26. Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.
Bouwman LF; den Hamer B; Verveer EP; Lerink LJS; Krom YD; van der Maarel SM; de Greef JC
Skelet Muscle; 2020 Oct; 10(1):27. PubMed ID: 33004076
[TBL] [Abstract][Full Text] [Related]
27. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
van Overveld PG; Lemmers RJ; Sandkuijl LA; Enthoven L; Winokur ST; Bakels F; Padberg GW; van Ommen GJ; Frants RR; van der Maarel SM
Nat Genet; 2003 Dec; 35(4):315-7. PubMed ID: 14634647
[TBL] [Abstract][Full Text] [Related]
28. Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.
Hewitt JE
Hum Mol Genet; 2015 Oct; 24(R1):R17-23. PubMed ID: 26113644
[TBL] [Abstract][Full Text] [Related]
29. Intronic
Goossens R; van den Boogaard ML; Lemmers RJLF; Balog J; van der Vliet PJ; Willemsen IM; Schouten J; Maggio I; van der Stoep N; Hoeben RC; Tapscott SJ; Geijsen N; Gonçalves MAFV; Sacconi S; Tawil R; van der Maarel SM
J Med Genet; 2019 Dec; 56(12):828-837. PubMed ID: 31676591
[TBL] [Abstract][Full Text] [Related]
30. Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
van den Boogaard ML; Lemmers RJ; Camaño P; van der Vliet PJ; Voermans N; van Engelen BG; Lopez de Munain A; Tapscott SJ; van der Stoep N; Tawil R; van der Maarel SM
Eur J Hum Genet; 2016 Jan; 24(1):78-85. PubMed ID: 25782668
[TBL] [Abstract][Full Text] [Related]
31. Clinical features of facioscapulohumeral muscular dystrophy 2.
de Greef JC; Lemmers RJ; Camaño P; Day JW; Sacconi S; Dunand M; van Engelen BG; Kiuru-Enari S; Padberg GW; Rosa AL; Desnuelle C; Spuler S; Tarnopolsky M; Venance SL; Frants RR; van der Maarel SM; Tawil R
Neurology; 2010 Oct; 75(17):1548-54. PubMed ID: 20975055
[TBL] [Abstract][Full Text] [Related]
32. Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
Lemmers RJ; van der Vliet PJ; Balog J; Goeman JJ; Arindrarto W; Krom YD; Straasheijm KR; Debipersad RD; Özel G; Sowden J; Snider L; Mul K; Sacconi S; van Engelen B; Tapscott SJ; Tawil R; van der Maarel SM
Eur J Hum Genet; 2018 Jan; 26(1):94-106. PubMed ID: 29162933
[TBL] [Abstract][Full Text] [Related]
33. Clinical application of single-molecule optical mapping to a multigeneration FSHD1 pedigree.
Zhang Q; Xu X; Ding L; Li H; Xu C; Gong Y; Liu Y; Mu T; Leigh D; Cram DS; Tang S
Mol Genet Genomic Med; 2019 Mar; 7(3):e565. PubMed ID: 30666819
[TBL] [Abstract][Full Text] [Related]
34. Facioscapulohumeral Muscular Dystrophy.
Statland JM; Tawil R
Continuum (Minneap Minn); 2016 Dec; 22(6, Muscle and Neuromuscular Junction Disorders):1916-1931. PubMed ID: 27922500
[TBL] [Abstract][Full Text] [Related]
35. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.
Greco A; Goossens R; van Engelen B; van der Maarel SM
Clin Genet; 2020 Jun; 97(6):799-814. PubMed ID: 32086799
[TBL] [Abstract][Full Text] [Related]
36. Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.
Balog J; Thijssen PE; de Greef JC; Shah B; van Engelen BG; Yokomori K; Tapscott SJ; Tawil R; van der Maarel SM
Epigenetics; 2012 Jun; 7(6):579-84. PubMed ID: 22522912
[TBL] [Abstract][Full Text] [Related]
37. DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Ferreboeuf M; Mariot V; Bessières B; Vasiljevic A; Attié-Bitach T; Collardeau S; Morere J; Roche S; Magdinier F; Robin-Ducellier J; Rameau P; Whalen S; Desnuelle C; Sacconi S; Mouly V; Butler-Browne G; Dumonceaux J
Hum Mol Genet; 2014 Jan; 23(1):171-81. PubMed ID: 23966205
[TBL] [Abstract][Full Text] [Related]
38. Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1.
Lemmers RJ
Methods Mol Biol; 2017; 1492():107-125. PubMed ID: 27822859
[TBL] [Abstract][Full Text] [Related]
39. A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.
Goossens R; Tihaya MS; van den Heuvel A; Tabot-Ndip K; Willemsen IM; Tapscott SJ; González-Prieto R; Chang JG; Vertegaal ACO; Balog J; van der Maarel SM
Sci Rep; 2021 Dec; 11(1):23642. PubMed ID: 34880314
[TBL] [Abstract][Full Text] [Related]
40. The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.
Himeda CL; Jones PL
Annu Rev Genomics Hum Genet; 2019 Aug; 20():265-291. PubMed ID: 31018108
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
