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Items: 1 to 20 of 225

1.

[Recent advances in facioscapulohumeral muscular dystrophy].

Hayashi YK, Goto K, Nishio I.

Rinsho Shinkeigaku. 2012;52(11):1154-7. Japanese.

PMID:
23196547
2.

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.

Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M.

Hum Mol Genet. 2003 Nov 15;12(22):2909-21. Epub 2003 Sep 23.

PMID:
14506132
3.

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. Epub 2007 Sep 7.

4.

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.

Statland JM, Tawil R.

Curr Opin Neurol. 2011 Oct;24(5):423-8. doi: 10.1097/WCO.0b013e32834959af. Review.

PMID:
21734574
5.

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.

Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.

Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17.

PMID:
23777630
6.

[Facioscapulohumeral muscular dystrophy type 2].

Sacconi S, Desnuelle C.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):564-72. doi: 10.1016/j.neurol.2013.02.004. Epub 2013 Aug 20. French.

PMID:
23969240
7.

Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.

Ki CS, Lee ST, Kim KS, Kim JW, Hong YH, Sung JJ, Park KS, Lee KW.

J Korean Med Sci. 2008 Dec;23(6):959-63. doi: 10.3346/jkms.2008.23.6.959. Epub 2008 Dec 23.

8.

Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.

Tsien F, Sun B, Hopkins NE, Vedanarayanan V, Figlewicz D, Winokur S, Ehrlich M.

Mol Genet Metab. 2001 Nov;74(3):322-31.

PMID:
11708861
9.

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.

van der Maarel SM, Tawil R, Tapscott SJ.

Trends Mol Med. 2011 May;17(5):252-8. doi: 10.1016/j.molmed.2011.01.001. Epub 2011 Feb 1. Review.

10.

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).

Fisher J, Upadhyaya M.

Neuromuscul Disord. 1997 Jan;7(1):55-62. Review.

PMID:
9132141
11.

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R.

Neurology. 2007 Feb 20;68(8):569-77. Epub 2006 Dec 6.

PMID:
17151338
12.

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.

Goto K, Nishino I, Hayashi YK.

Neuromuscul Disord. 2006 Apr;16(4):256-61. Epub 2006 Mar 20.

PMID:
16545566
13.

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011.

Attarian S, Salort-Campana E, Nguyen K, Behin A, Andoni Urtizberea J.

Rev Neurol (Paris). 2012 Dec;168(12):910-8. doi: 10.1016/j.neurol.2011.11.008. Epub 2012 Apr 30. Review.

PMID:
22551571
14.

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M.

Hum Genet. 2012 Mar;131(3):325-40. doi: 10.1007/s00439-011-1100-z. Epub 2011 Oct 9. Review.

PMID:
21984394
15.

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.

Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM.

Neuromuscul Disord. 2005 Jul;15(7):471-5.

PMID:
15935668
16.

CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.

Himeda CL, Jones TI, Jones PL.

Mol Ther. 2016 Mar;24(3):527-35. doi: 10.1038/mt.2015.200. Epub 2015 Nov 3.

17.

Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.

Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H.

J Neurol. 2003 Aug;250(8):932-7.

PMID:
12928911
18.

Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population.

Zhang YZ, Sun SC, Wu HC, Fan QS, Song YJ, Yu W, Jeanpierre M, Urtizberea JA.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):380-2.

PMID:
16086272
19.

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.

van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM.

Ann Neurol. 2005 Oct;58(4):569-76.

PMID:
16178028
20.

FSHD-like patients without 4q35 deletion.

Yamanaka G, Goto K, Ishihara T, Oya Y, Miyajima T, Hoshika A, Nishino I, Hayashi YK.

J Neurol Sci. 2004 Apr 15;219(1-2):89-93.

PMID:
15050443

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