Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 272

1.

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
2.

Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature.

Neudecker S, Krasnianski M, Bahn E, Zierz S.

Acta Neuropathol. 2004 Sep;108(3):257-9. Epub 2004 Jun 24.

PMID:
15221332
3.

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
4.

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
5.

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
6.

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
7.
8.

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
9.

[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
10.

[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
11.

Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy.

Figueroa JJ, Chapin JE.

J Neurol. 2010 Mar;257(3):444-6. doi: 10.1007/s00415-009-5346-5. Epub 2009 Oct 14.

PMID:
19826857
12.
13.

Facioscapulohumeral muscular dystrophy.

Tawil R.

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

PMID:
14683629
14.

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
15.

[Clinical and genetical features of Japanese early-onset facioscapulohumeral muscular dystrophy].

Yamanaka G, Goto K, Hayashi YK, Miyajima T, Hoshika A, Arahata K.

No To Hattatsu. 2002 Jul;34(4):318-24. Japanese.

PMID:
12134683
16.

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
17.

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC.

BMC Med Genet. 2013 Sep 16;14:92. doi: 10.1186/1471-2350-14-92.

18.

Facioscapulohumeral dystrophy.

Kissel JT.

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

PMID:
10711987
19.

Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD).

Wood-Allum C, Brennan P, Hewitt M, Lowe J, Tyfield L, Wills A.

Neuropathol Appl Neurobiol. 2004 Apr;30(2):188-91. No abstract available.

PMID:
15043716
20.

Focal and other unusual presentations of facioscapulohumeral muscular dystrophy.

Hassan A, Jones LK Jr, Milone M, Kumar N.

Muscle Nerve. 2012 Sep;46(3):421-5. doi: 10.1002/mus.23358.

PMID:
22907234

Supplemental Content

Support Center