239 related articles for article (PubMed ID: 36348371)
21. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
Gaillard MC; Puppo F; Roche S; Dion C; Campana ES; Mariot V; Chaix C; Vovan C; Mazaleyrat K; Tasmadjian A; Bernard R; Dumonceaux J; Attarian S; Lévy N; Nguyen K; Magdinier F; Bartoli M
BMC Med Genet; 2016 Sep; 17(1):66. PubMed ID: 27634379
[TBL] [Abstract][Full Text] [Related]
22. CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.
Rieken A; Bossler AD; Mathews KD; Moore SA
Neurology; 2021 Feb; 96(7):e1054-e1062. PubMed ID: 33443126
[TBL] [Abstract][Full Text] [Related]
23. Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Lemmers RJLF; Butterfield R; van der Vliet PJ; de Bleecker JL; van der Pol L; Dunn DM; Erasmus CE; D'Hooghe M; Verhoeven K; Balog J; Bigot A; van Engelen B; Statland J; Bugiardini E; van der Stoep N; Evangelista T; Marini-Bettolo C; van den Bergh P; Tawil R; Voermans NC; Vissing J; Weiss RB; van der Maarel SM
Brain; 2024 Feb; 147(2):414-426. PubMed ID: 37703328
[TBL] [Abstract][Full Text] [Related]
24. Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.
Alavi A; Esmaeili S; Nafissi S; Kahrizi K; Najmabadi H
Neuromuscul Disord; 2018 Apr; 28(4):303-314. PubMed ID: 29402602
[TBL] [Abstract][Full Text] [Related]
25. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
Zeng W; de Greef JC; Chen YY; Chien R; Kong X; Gregson HC; Winokur ST; Pyle A; Robertson KD; Schmiesing JA; Kimonis VE; Balog J; Frants RR; Ball AR; Lock LF; Donovan PJ; van der Maarel SM; Yokomori K
PLoS Genet; 2009 Jul; 5(7):e1000559. PubMed ID: 19593370
[TBL] [Abstract][Full Text] [Related]
26. Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
de Greef JC; Krom YD; den Hamer B; Snider L; Hiramuki Y; van den Akker RFP; Breslin K; Pakusch M; Salvatori DCF; Slütter B; Tawil R; Blewitt ME; Tapscott SJ; van der Maarel SM
Hum Mol Genet; 2018 Feb; 27(4):716-731. PubMed ID: 29281018
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
Balog J; Thijssen PE; Shadle S; Straasheijm KR; van der Vliet PJ; Krom YD; van den Boogaard ML; de Jong A; F Lemmers RJ; Tawil R; Tapscott SJ; van der Maarel SM
Epigenetics; 2015; 10(12):1133-42. PubMed ID: 26575099
[TBL] [Abstract][Full Text] [Related]
29. Facioscapulohumeral Muscular Dystrophy.
DeSimone AM; Pakula A; Lek A; Emerson CP
Compr Physiol; 2017 Sep; 7(4):1229-1279. PubMed ID: 28915324
[TBL] [Abstract][Full Text] [Related]
30. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Renard D; Taieb G; Garibaldi M; Maues De Paula A; Bernard R; Lagha N; Cristofari G; Vovan C; Chaix C; Lévy N; Khau Van Kien P; Sacconi S
Am J Med Genet A; 2018 Aug; 176(8):1760-1763. PubMed ID: 30055030
[TBL] [Abstract][Full Text] [Related]
31. Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Balog J; Goossens R; Lemmers RJLF; Straasheijm KR; van der Vliet PJ; Heuvel AVD; Cambieri C; Capet N; Feasson L; Manel V; Contet J; Kriek M; Donlin-Smith CM; Ruivenkamp CAL; Heard P; Tapscott SJ; Cody JD; Tawil R; Sacconi S; van der Maarel SM
J Med Genet; 2018 Jul; 55(7):469-478. PubMed ID: 29563141
[TBL] [Abstract][Full Text] [Related]
32. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
Lemmers RJ; Wohlgemuth M; van der Gaag KJ; van der Vliet PJ; van Teijlingen CM; de Knijff P; Padberg GW; Frants RR; van der Maarel SM
Am J Hum Genet; 2007 Nov; 81(5):884-94. PubMed ID: 17924332
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.
Lee JH; Park HJ; Seong MW; Park SS; Choi YC
Yonsei Med J; 2021 Jan; 62(1):95-98. PubMed ID: 33381940
[TBL] [Abstract][Full Text] [Related]
35. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.
Hamel J; Tawil R
Neurotherapeutics; 2018 Oct; 15(4):863-871. PubMed ID: 30361930
[TBL] [Abstract][Full Text] [Related]
36. SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
Mason AG; Slieker RC; Balog J; Lemmers RJLF; Wong CJ; Yao Z; Lim JW; Filippova GN; Ne E; Tawil R; Heijmans BT; Tapscott SJ; van der Maarel SM
Skelet Muscle; 2017 Jun; 7(1):12. PubMed ID: 28587678
[TBL] [Abstract][Full Text] [Related]
37. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.
Winston J; Duerden L; Mort M; Frayling IM; Rogers MT; Upadhyaya M
Eur J Hum Genet; 2015 Jan; 23(1):67-71. PubMed ID: 24755953
[TBL] [Abstract][Full Text] [Related]
38. FSHD1 and FSHD2 form a disease continuum.
Sacconi S; Briand-Suleau A; Gros M; Baudoin C; Lemmers RJLF; Rondeau S; Lagha N; Nigumann P; Cambieri C; Puma A; Chapon F; Stojkovic T; Vial C; Bouhour F; Cao M; Pegoraro E; Petiot P; Behin A; Marc B; Eymard B; Echaniz-Laguna A; Laforet P; Salviati L; Jeanpierre M; Cristofari G; van der Maarel SM
Neurology; 2019 May; 92(19):e2273-e2285. PubMed ID: 30979860
[TBL] [Abstract][Full Text] [Related]
39. Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
Lemmers RJ; van den Boogaard ML; van der Vliet PJ; Donlin-Smith CM; Nations SP; Ruivenkamp CA; Heard P; Bakker B; Tapscott S; Cody JD; Tawil R; van der Maarel SM
Hum Mutat; 2015 Jul; 36(7):679-83. PubMed ID: 25820463
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
