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Results: 1 to 20 of 138

Similar articles for PubMed (Select 10655062)

1.

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE.

Nat Genet. 2000 Feb;24(2):163-6.

PMID:
10655062
2.

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
3.

Dysferlin protein analysis in limb-girdle muscular dystrophies.

Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.

J Mol Neurosci. 2001 Aug;17(1):71-80.

PMID:
11665864
4.

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M.

J Med Genet. 1996 Feb;33(2):97-102.

5.

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.

Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M.

Am J Med Genet. 1999 Feb 19;82(5):392-8.

PMID:
10069710
6.

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.

7.

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.

Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M.

Nat Genet. 1996 Oct;14(2):195-8.

PMID:
8841194
9.

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.

Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K.

Am J Hum Genet. 1998 Jul;63(1):140-7.

10.

Molecular bases of autosomal recessive limb-girdle muscular dystrophies.

Nigro V.

Acta Myol. 2003 Sep;22(2):35-42. Review.

PMID:
14959561
12.

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.

Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K.

Nat Genet. 1998 Sep;20(1):37-42.

PMID:
9731527
13.

Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.

Fendri K, Kefi M, Hentati F, Amouri R.

Neuromuscul Disord. 2006 May;16(5):316-20. Epub 2006 Apr 17.

PMID:
16616845
14.

Making sense of the limb-girdle muscular dystrophies.

Bushby KM.

Brain. 1999 Aug;122 ( Pt 8):1403-20. Review.

15.

Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.

Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SK, Vasquez L, Iughetti P, Bakker E, Keers S, Stephenson A, et al.

Genomics. 1995 May 1;27(1):192-5.

PMID:
7665169
16.

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.

McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP.

Hum Mol Genet. 1996 Nov;5(11):1841-7.

17.

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
18.

Beyond dystrophin: current progress in the muscular dystrophies.

Bönnemann CG, McNally EM, Kunkel LM.

Curr Opin Pediatr. 1996 Dec;8(6):569-82. Review. Erratum in: Curr Opin Pediatr 1997 Apr;9(2):196.

PMID:
9018440
19.

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR.

Am J Hum Genet. 1997 Jul;61(1):151-9.

20.

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
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