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Items: 1 to 20 of 118

1.

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
2.

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
3.

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
4.
5.

[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
6.

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
7.

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
8.

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
9.

[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
10.

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
11.
12.

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
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.

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).

Fisher J, Upadhyaya M.

Neuromuscul Disord. 1997 Jan;7(1):55-62. Review.

PMID:
9132141
15.

Tongue atrophy in facioscapulohumeral muscular dystrophy.

Yamanaka G, Goto K, Matsumura T, Funakoshi M, Komori T, Hayashi YK, Arahata K.

Neurology. 2001 Aug 28;57(4):733-5.

PMID:
11524495
16.

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
17.
18.

[Gene diagnosis of facioscapulohumeral muscular dystrophy].

Zhang JL, Shen DG, Zhou PK, Liu JW, Jia N, Liu H, Wang HB, Yang SX, Frants RR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun;20(3):232-4. Chinese.

PMID:
12778451
19.

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
20.

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

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