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Items: 1 to 20 of 131

1.

Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions.

Trevisan CP, Pastorello E, Tomelleri G, Vercelli L, Bruno C, Scapolan S, Siciliano G, Comacchio F.

Eur J Neurol. 2008 Dec;15(12):1353-8. doi: 10.1111/j.1468-1331.2008.02314.x.

PMID:
19049553
2.

Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.

Chen TH, Lai YH, Lee PL, Hsu JH, Goto K, Hayashi YK, Nishino I, Lin CW, Shih HH, Huang CC, Liang WC, Wang WF, Jong YJ.

Neuromuscul Disord. 2013 Apr;23(4):298-305. doi: 10.1016/j.nmd.2013.01.005. Epub 2013 Feb 21.

PMID:
23434070
3.

Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy.

Grosso S, Mostardini R, Di Bartolo RM, Balestri P, Verrotti A.

Eur J Paediatr Neurol. 2011 Sep;15(5):456-60. doi: 10.1016/j.ejpn.2011.04.003. Epub 2011 Jul 16.

PMID:
21763164
4.

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
5.

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
6.

Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function.

Trevisan CP, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Marioni G, Rimini A.

Audiol Neurootol. 2008;13(1):1-6. Epub 2007 Aug 22.

PMID:
17715463
7.

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
8.

[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
9.

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
10.

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
11.

[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
12.

An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD).

Busse K, Köhler J, Stegmann K, Pongratz D, Koch MC, Schreiber H.

Neuromuscul Disord. 2000 Mar;10(3):178-81.

PMID:
10734264
13.

Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy.

Miura K, Kumagai T, Matsumoto A, Iriyama E, Watanabe K, Goto K, Arahata K.

Neuropediatrics. 1998 Oct;29(5):239-41.

PMID:
9810558
14.

Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy.

Saito Y, Miyashita S, Yokoyama A, Komaki H, Seki A, Maegaki Y, Ohno K.

Brain Dev. 2007 May;29(4):231-3. Epub 2006 Sep 28.

PMID:
17010549
15.

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
16.
17.

Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction.

Hobson-Webb LD, Caress JB.

J Child Neurol. 2006 Mar;21(3):252-3.

PMID:
16901430
18.

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
19.

Molecular diagnosis of facioscapulohumeral muscular dystrophy.

Upadhyaya M, Cooper DN.

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

PMID:
11962336
20.

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