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Items: 1 to 20 of 165

1.

A unifying genetic model for facioscapulohumeral muscular dystrophy.

Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.

Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19.

2.

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.

3.

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
4.

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
5.

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.

Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG.

PLoS Genet. 2010 Oct 28;6(10):e1001181. doi: 10.1371/journal.pgen.1001181.

6.

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. doi: 10.1016/j.nmd.2016.09.015. Epub 2016 Sep 19. Review.

PMID:
27816329
7.

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ.

Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9.

8.

[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
9.

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
10.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.

Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.

11.

Genetics. Exposing a DUX tale.

Mahadevan MS.

Science. 2010 Sep 24;329(5999):1607-8. doi: 10.1126/science.1195984. No abstract available.

PMID:
20929834
12.

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.

13.

Facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Desnuelle C.

Biochim Biophys Acta. 2015 Apr;1852(4):607-14. doi: 10.1016/j.bbadis.2014.05.021. Epub 2014 May 29. Review.

14.

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.

Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR Jr, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.

Hum Mutat. 2014 Aug;35(8):998-1010. doi: 10.1002/humu.22593. Epub 2014 Jun 24.

15.

Facioscapulohumeral Muscular Dystrophy.

DeSimone AM, Pakula A, Lek A, Emerson CP Jr.

Compr Physiol. 2017 Sep 12;7(4):1229-1279. doi: 10.1002/cphy.c160039. Review.

PMID:
28915324
16.

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.

Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP Jr, Wagner KR, Jones PL.

Hum Mol Genet. 2012 Oct 15;21(20):4419-30. Epub 2012 Jul 13.

17.

In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy.

Neguembor MV, Gabellini D.

Epigenomics. 2010 Apr;2(2):271-87. doi: 10.2217/epi.10.8. Review.

PMID:
22121874
18.

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Wang ZQ, Wang N, van der Maarel S, Murong SX, Wu ZY.

Eur J Hum Genet. 2011 Jan;19(1):64-9. doi: 10.1038/ejhg.2010.143. Epub 2010 Aug 25.

19.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.

J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3.

PMID:
22217918
20.

A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD.

Peart N, Wagner EJ.

Hum Genet. 2017 Sep;136(9):1291-1301. doi: 10.1007/s00439-017-1813-8. Epub 2017 May 24.

PMID:
28540412

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