237 related articles for article (PubMed ID: 26446085)
21. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
Mitsuhashi S; Boyden SE; Estrella EA; Jones TI; Rahimov F; Yu TW; Darras BT; Amato AA; Folkerth RD; Jones PL; Kunkel LM; Kang PB
Neuromuscul Disord; 2013 Dec; 23(12):975-80. PubMed ID: 24128691
[TBL] [Abstract][Full Text] [Related]
22. A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.
Gatica LV; Rosa AL
Neuromuscul Disord; 2016 Dec; 26(12):844-852. PubMed ID: 27816329
[TBL] [Abstract][Full Text] [Related]
23. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
Hiramuki Y; Kure Y; Saito Y; Ogawa M; Ishikawa K; Mori-Yoshimura M; Oya Y; Takahashi Y; Kim DS; Arai N; Mori C; Matsumura T; Hamano T; Nakamura K; Ikezoe K; Hayashi S; Goto Y; Noguchi S; Nishino I
J Transl Med; 2022 Nov; 20(1):517. PubMed ID: 36348371
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Nguyen K; Puppo F; Roche S; Gaillard MC; Chaix C; Lagarde A; Pierret M; Vovan C; Olschwang S; Salort-Campana E; Attarian S; Bartoli M; Bernard R; Magdinier F; Levy N
Hum Mutat; 2017 Oct; 38(10):1432-1441. PubMed ID: 28744936
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. 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.
Lemmers RJLF; van der Stoep N; Vliet PJV; Moore SA; San Leon Granado D; Johnson K; Topf A; Straub V; Evangelista T; Mozaffar T; Kimonis V; Shaw ND; Selvatici R; Ferlini A; Voermans N; van Engelen B; Sacconi S; Tawil R; Lamers M; van der Maarel SM
J Med Genet; 2019 Oct; 56(10):693-700. PubMed ID: 31243061
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. 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]
32. The Epigenetic Regulator SMCHD1 in Development and Disease.
Jansz N; Chen K; Murphy JM; Blewitt ME
Trends Genet; 2017 Apr; 33(4):233-243. PubMed ID: 28222895
[TBL] [Abstract][Full Text] [Related]
33. Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in
Cascella R; Strafella C; Caputo V; Galota RM; Errichiello V; Scutifero M; Petillo R; Marella GL; Arcangeli M; Colantoni L; Zampatti S; Ricci E; Deidda G; Politano L; Giardina E
Front Neurol; 2018; 9():1027. PubMed ID: 30546343
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Homozygous nonsense variant in
Hamanaka K; Šikrová D; Mitsuhashi S; Masuda H; Sekiguchi Y; Sugiyama A; Shibuya K; Lemmers RJLF; Goossens R; Ogawa M; Nagao K; Obuse C; Noguchi S; Hayashi YK; Kuwabara S; Balog J; Nishino I; van der Maarel SM
Neurology; 2020 Jun; 94(23):e2441-e2447. PubMed ID: 32467133
[TBL] [Abstract][Full Text] [Related]
36. SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
Šikrová D; Testa AM; Willemsen I; van den Heuvel A; Tapscott SJ; Daxinger L; Balog J; van der Maarel SM
Commun Biol; 2023 Jun; 6(1):677. PubMed ID: 37380887
[TBL] [Abstract][Full Text] [Related]
37. Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.
Lim JW; Wong CJ; Yao Z; Tawil R; van der Maarel SM; Miller DG; Tapscott SJ; Filippova GN
Hum Mol Genet; 2018 Aug; 27(15):2644-2657. PubMed ID: 29741619
[TBL] [Abstract][Full Text] [Related]
38. The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Strafella C; Caputo V; Galota RM; Campoli G; Bax C; Colantoni L; Minozzi G; Orsini C; Politano L; Tasca G; Novelli G; Ricci E; Giardina E; Cascella R
Hum Mol Genet; 2019 Dec; 28(23):3912-3920. PubMed ID: 31600781
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]