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Items: 1 to 20 of 176

1.

A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years.

Ramos VF, Thaisetthawatkul P.

Age Ageing. 2012 Mar;41(2):273-4. doi: 10.1093/ageing/afr095. Epub 2011 Jul 27.

2.

Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.

Rudnik-Schöneborn S, Weis J, Kress W, Häusler M, Zerres K.

Neuromuscul Disord. 2008 Nov;18(11):881-5. doi: 10.1016/j.nmd.2008.06.387. Epub 2008 Aug 5.

PMID:
18684626
3.

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
4.

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
5.

[Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].

Jordan B, Müller-Reible C, Zierz S.

Nervenarzt. 2011 Jun;82(6):712-22. doi: 10.1007/s00115-010-2968-x. German.

PMID:
21567298
6.

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
7.

Diagnostic challenges in facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C.

Neurology. 2006 Oct 24;67(8):1464-6.

PMID:
17060574
8.

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases.

van der Kooi AJ, Visser MC, Rosenberg N, van den Berg-Vos R, Wokke JH, Bakker E, de Visser M.

J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):114-6.

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.

Facioscapulohumeral dystrophy.

Kissel JT.

Semin Neurol. 1999;19(1):35-43. Review.

PMID:
10711987
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.

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy.

Vitelli F, Villanova M, Malandrini A, Bruttini M, Piccini M, Merlini L, Guazzi G, Renieri A.

Muscle Nerve. 1999 Oct;22(10):1437-41.

PMID:
10487912
13.

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
14.

Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study.

Tsuji M, Kinoshita M, Imai Y, Kawamoto M, Kohara N.

Neuromuscul Disord. 2009 Feb;19(2):140-2. doi: 10.1016/j.nmd.2008.11.011. Epub 2009 Jan 14.

PMID:
19147353
15.

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
16.

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
17.

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
18.

[Scapulo-peroneal weakness with tardive symptoms of facio-scapulo-humeral muscular dystrophy, connected to 4q35 chromosomal deletion].

Zeevaert B, Sadzot B, Deprez M, Wang FC.

Rev Neurol (Paris). 2002 Dec;158(12 Pt 1):1210-3. French.

PMID:
12690743
19.

Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD).

Upadhyaya M, MacDonald M, Ravine D.

Prenat Diagn. 1999 Oct;19(10):959-65.

PMID:
10521823
20.

Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.

Yanoov-Sharav M, Leshinsky-Silver E, Cohen S, Vinkler C, Michelson M, Lerman-Sagie T, Ginzberg M, Sadeh M, Lev D.

J Genet Couns. 2012 Aug;21(4):557-63. doi: 10.1007/s10897-011-9422-5. Epub 2011 Nov 23.

PMID:
22109111
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