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Results: 1 to 20 of 95

Related Citations for PubMed (Select 10660328)

1.

Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.

dos Santos MR, Jorge P, Ribeiro EM, Pires MM, Guimarães A.

Hum Mutat. 1998;12(3):214-5.

PMID:
10660328
2.

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).

Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM.

Hum Mol Genet. 1996 Dec;5(12):1953-61.

3.

LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.

Bönnemann CG, Wong J, Ben Hamida C, Hamida MB, Hentati F, Kunkel LM.

Neuromuscul Disord. 1998 May;8(3-4):193-7.

PMID:
9631401
4.

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.

Barresi R, Di Blasi C, Negri T, Brugnoni R, Vitali A, Felisari G, Salandi A, Daniel S, Cornelio F, Morandi L, Mora M.

J Med Genet. 2000 Feb;37(2):102-7.

5.

Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).

Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP.

Neurogenetics. 1997 May;1(1):49-58.

PMID:
10735275
7.

Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.

Schara U, Gencik M, Mortier J, Langen M, Gencikova A, Epplen JT, Mortier W.

Eur J Pediatr. 2001 Jul;160(7):452-3.

PMID:
11475588
8.

Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping.

Bertoni C, Lau C, Rando TA.

Hum Mol Genet. 2003 May 15;12(10):1087-99.

9.

Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.

Sylvius N, Duboscq-Bidot L, Bouchier C, Charron P, Benaiche A, Sébillon P, Komajda M, Villard E.

Am J Med Genet A. 2003 Jul 1;120A(1):8-12.

PMID:
12794684
10.

Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.

Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP.

Hum Mol Genet. 2000 Aug 12;9(13):2019-27.

11.

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach.

Freund AA, Scola RH, Arndt RC, Lorenzoni PJ, Kay CK, Werneck LC.

Arq Neuropsiquiatr. 2007 Mar;65(1):73-6.

12.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
13.

Novel mutations in three patients with LGMD2C with phenotypic differences.

Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC.

Pediatr Neurol. 2004 Apr;30(4):291-4.

PMID:
15087111
14.

Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of Sarcoglycan assembly.

Zhu X, Hadhazy M, Groh ME, Wheeler MT, Wollmann R, McNally EM.

J Biol Chem. 2001 Jun 15;276(24):21785-90. Epub 2001 Apr 3.

15.

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.

Duclos F, Broux O, Bourg N, Straub V, Feldman GL, Sunada Y, Lim LE, Piccolo F, Cutshall S, Gary F, Quetier F, Kaplan JC, Jackson CE, Beckmann JS, Campbell KP.

Neuromuscul Disord. 1998 Feb;8(1):30-8.

PMID:
9565988
16.

Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.

Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F.

Neuromuscul Disord. 2003 Dec;13(10):779-87.

PMID:
14678800
17.

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.

Todorova A, Todorov T, Georgieva B, Lukova M, Guergueltcheva V, Kremensky I, Mitev V.

Neuromuscul Disord. 2008 Aug;18(8):667-70. doi: 10.1016/j.nmd.2008.06.369. Epub 2008 Jul 23.

PMID:
18653336
18.

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

Tuffery-Giraud S, Saquet C, Chambert S, Claustres M.

Hum Mutat. 2003 Jun;21(6):608-14.

PMID:
12754707
19.

Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy.

Franz WM, Müller M, Müller OJ, Herrmann R, Rothmann T, Cremer M, Cohn RD, Voit T, Katus HA.

Lancet. 2000 May 20;355(9217):1781-5.

PMID:
10832829
20.

[Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].

Li H, Ding J, Wang W, Chen Y, Lu W, Shao H, Wu BL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):318-22. doi: 10.3760/cma.j.issn.1003-9406.2009.03.018. Chinese.

PMID:
19504448
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