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Items: 1 to 20 of 733

1.

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
2.

Facioscapulohumeral muscular dystrophy.

Tawil R.

Curr Neurol Neurosci Rep. 2004 Jan;4(1):51-4. Review.

PMID:
14683629
3.

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, Tapscott SJ, van der Maarel SM, Hayashi Y, Flanigan KM.

Hum Mol Genet. 2003 Nov 15;12(22):2895-907. Epub 2003 Sep 30.

PMID:
14519683
4.

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.

Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR.

Neurology. 2007 Feb 20;68(8):578-82. Epub 2007 Jan 17.

PMID:
17229919
5.

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
6.

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung SA, Masny PS, Figlewicz DA.

Neuromuscul Disord. 2003 May;13(4):322-33.

PMID:
12868502
7.

[Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes].

Krasnianski M, Neudecker S, Eger K, Schulte-Mattler W, Zierz S.

Nervenarzt. 2003 Feb;74(2):151-8. German.

PMID:
12596016
8.

Severe phenotype in infantile facioscapulohumeral muscular dystrophy.

Klinge L, Eagle M, Haggerty ID, Roberts CE, Straub V, Bushby KM.

Neuromuscul Disord. 2006 Oct;16(9-10):553-8. Epub 2006 Aug 24.

PMID:
16934468
9.

Molecular diagnosis of facioscapulohumeral muscular dystrophy.

Upadhyaya M, Cooper DN.

Expert Rev Mol Diagn. 2002 Mar;2(2):160-71. Review.

PMID:
11962336
10.

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.

Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM.

J Med Genet. 2004 Nov;41(11):826-36.

11.

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC.

J Neurol. 2010 Jul;257(7):1108-18. doi: 10.1007/s00415-010-5471-1. Epub 2010 Feb 10.

PMID:
20146070
12.

Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy.

Dmitriev P, Lipinski M, Vassetzky YS.

Neuromuscul Disord. 2009 Jan;19(1):17-20. doi: 10.1016/j.nmd.2008.09.004. Epub 2008 Oct 29. Review.

PMID:
18974002
13.

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.

Vielhaber S, Jakubiczka S, Schröder JM, Sailer M, Feistner H, Heinze HJ, Wieacker P, Bettecken T.

Muscle Nerve. 2002 Apr;25(4):540-8.

PMID:
11932972
14.

Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.

Krasnianski M, Neudecker S, Eger K, Jakubiczka S, Zierz S.

J Neurol. 2003 Sep;250(9):1084-7.

PMID:
14504970
15.

Facioscapulohumeral muscular dystrophy.

Tawil R, Van Der Maarel SM.

Muscle Nerve. 2006 Jul;34(1):1-15. Review.

PMID:
16508966
16.

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.

17.

Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.

Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S.

Arch Neurol. 2003 Oct;60(10):1421-5.

PMID:
14568813
18.

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.

Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M.

Neurology. 2003 Jul 22;61(2):178-83.

PMID:
12874395
19.

Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation.

Bindoff LA, Mjellem N, Sommerfelt K, Krossnes BK, Roberts F, Krohn J, Tranheim RS, Haggerty ID.

Neuromuscul Disord. 2006 Oct;16(9-10):559-63. Epub 2006 Aug 28.

PMID:
16935506
20.

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

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