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Items: 1 to 20 of 109

1.

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, Galluzzi G, Trevisan CP.

Clin Genet. 2009 Jun;75(6):550-5. doi: 10.1111/j.1399-0004.2009.01158.x. Epub 2009 Mar 23.

PMID:
19320656
2.

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
3.

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
4.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.

J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3.

PMID:
22217918
5.

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy.

Felice KJ, North WA, Moore SA, Mathews KD.

Neurology. 2000 May 23;54(10):1927-31.

PMID:
10822431
6.

[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report].

Dorobek M, Kabzińska D, Ryniewicz B, Fidziańska-Dolot A, Hausmanowa-Petrusewicz I.

Neurol Neurochir Pol. 2004 Mar-Apr;38(2):83-8. Polish.

PMID:
15307599
7.

Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.

Ki CS, Lee ST, Kim KS, Kim JW, Hong YH, Sung JJ, Park KS, Lee KW.

J Korean Med Sci. 2008 Dec;23(6):959-63. doi: 10.3346/jkms.2008.23.6.959. Epub 2008 Dec 23.

8.

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
9.

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
10.

Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy.

Pastorello E, Cao M, Trevisan CP.

Clin Neurol Neurosurg. 2012 Apr;114(3):230-4. doi: 10.1016/j.clineuro.2011.10.022. Epub 2011 Nov 12.

11.

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
12.

[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
13.

[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
14.

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
15.

[Progress in researches on the molecular genetics of facioscapulohumeral muscular dystrophy].

Su Q, Zhang C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Oct;18(5):398-401. Review. Chinese.

PMID:
11592052
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: 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
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: 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
20.

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).

Fisher J, Upadhyaya M.

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

PMID:
9132141

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