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Items: 1 to 20 of 127

1.

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
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.
4.

[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
5.

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
6.

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
7.

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
8.
9.

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
10.

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
11.

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
12.

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
13.
14.

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.

Lutz KL, Holte L, Kliethermes SA, Stephan C, Mathews KD.

Neurology. 2013 Oct 15;81(16):1374-7. doi: 10.1212/WNL.0b013e3182a84140. Epub 2013 Sep 16.

15.

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
16.

[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
17.

[Facioscapulohumeral muscular dystrophy (FSHD)].

Funakoshi M, Goto K, Kim BY, Arahata K.

Nihon Rinsho. 1997 Dec;55(12):3181-5. Review. Japanese.

PMID:
9436432
18.

Compound heterozygosity in a South African patient with facioscapulohumeral muscular dystrophy.

Olckers A, van der Merwe A, Wayne Towers G, Retief CF, Honey E, Schutte CM.

Neuromuscul Disord. 2012 Aug;22(8):728-34. doi: 10.1016/j.nmd.2012.04.009. Epub 2012 May 29.

PMID:
22652079
19.

[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
20.

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M.

Hum Mol Genet. 1995 May;4(5):951-8. Erratum in: Hum Mol Genet 1995 Jul;4(7):1243-4.

PMID:
7633457

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