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Items: 1 to 20 of 327

1.

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.

PMID:
8968749
2.

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
3.

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
5.

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.

6.

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
7.

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.

Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M.

Hum Mol Genet. 1995 Jul;4(7):1163-7.

PMID:
8528203
8.

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex.

Duggan DJ, Hoffman EP.

Neuromuscul Disord. 1996 Dec;6(6):475-82.

PMID:
9027858
9.

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.

Vainzof M, Passos-Bueno MR, Pavanello RC, Marie SK, Oliveira AS, Zatz M.

J Neurol Sci. 1999 Mar 15;164(1):44-9.

PMID:
10385046
10.

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.

Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al.

Nat Genet. 1995 Nov;11(3):257-65.

PMID:
7581448
11.

Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.

Quinlivan RM, Robb SA, Sewry C, Dubowitz V, Piccolo F, Kaplan JC.

Dev Med Child Neurol. 1997 Nov;39(11):770-4.

12.

Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.

Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN.

Neuromuscul Disord. 2002 Mar;12(3):273-80.

PMID:
11801399
13.

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.

PMID:
10942431
14.

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
15.

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].

Eirís-Puñal J, Pintos-Martínez E, Lasa A, Gallano P, Castro-Gago M.

Rev Neurol. 2002 Mar 1-15;34(5):486-9. Spanish.

16.

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.

Lasa A, Piccolo F, de Diego C, Jeanpierre M, Colomer J, Rodríguez MJ, Urtizberea JA, Baiget M, Kaplan J, Gallano P.

Eur J Hum Genet. 1998 Jul-Aug;6(4):396-9.

17.

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
18.

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.

Sewry CA, Taylor J, Anderson LV, Ozawa E, Pogue R, Piccolo F, Bushby K, Dubowitz V, Muntoni F.

Neuromuscul Disord. 1996 Dec;6(6):467-74.

PMID:
9027857
19.

Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.

Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, Crawford TO, McPherson JD, Campbell KP.

J Biol Chem. 1996 Dec 13;271(50):32321-9.

20.

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.

Ginjaar HB, van der Kooi AJ, Ceelie H, Kneppers AL, van Meegen M, Barth PG, Busch HF, Wokke JH, Anderson LV, Bönnemann CG, Jeanpierre M, Bolhuis PA, Moorman AF, de Visser M, Bakker E, Ommen GJ.

J Neurol. 2000 Jul;247(7):524-9.

PMID:
10993494

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