Bashir R - Search Results

1

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. Argov Z, et al. Among authors: bashir r. Brain. 2000 Jun;123 ( Pt 6):1229-37. doi: 10.1093/brain/123.6.1229. Brain. 2000. PMID: 10825360

2

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr. Aoki M, et al. Among authors: bashir r. Neurology. 2001 Jul 24;57(2):271-8. doi: 10.1212/wnl.57.2.271. Neurology. 2001. PMID: 11468312

3

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. Bashir R, et al. Nat Genet. 1998 Sep;20(1):37-42. doi: 10.1038/1689. Nat Genet. 1998. PMID: 9731527

4

Dysferlin is a plasma membrane protein and is expressed early in human development.

Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KM. Anderson LV, et al. Among authors: bashir r. Hum Mol Genet. 1999 May;8(5):855-61. doi: 10.1093/hmg/8.5.855. Hum Mol Genet. 1999. PMID: 10196375

5

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM. Anderson LV, et al. Among authors: bashir r. Neuromuscul Disord. 2000 Dec;10(8):553-9. doi: 10.1016/s0960-8966(00)00143-7. Neuromuscul Disord. 2000. PMID: 11053681

6

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

White KD, Ince PG, Lusher M, Lindsey J, Cookson M, Bashir R, Shaw PJ, Bushby KM. White KD, et al. Among authors: bashir r. Neurology. 2000 Jul 12;55(1):89-94. doi: 10.1212/wnl.55.1.89. Neurology. 2000. PMID: 10891911

7

The third human FER-1-like protein is highly similar to dysferlin.

Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R. Britton S, et al. Among authors: bashir r. Genomics. 2000 Sep 15;68(3):313-21. doi: 10.1006/geno.2000.6290. Genomics. 2000. PMID: 10995573

8

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation.

Vafiadaki E, Reis A, Keers S, Harrison R, Anderson LV, Raffelsberger T, Ivanova S, Hoger H, Bittner RE, Bushby K, Bashir R. Vafiadaki E, et al. Among authors: bashir r. Neuroreport. 2001 Mar 5;12(3):625-9. doi: 10.1097/00001756-200103050-00039. Neuroreport. 2001. PMID: 11234777

9

Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p.

Bashir R, Keers S, Strachan T, Passos-Bueno R, Zatz M, Weissenbach J, Le Paslier D, Meisler M, Bushby K. Bashir R, et al. Genomics. 1996 Apr 1;33(1):46-52. doi: 10.1006/geno.1996.0157. Genomics. 1996. PMID: 8617508

10

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.

Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, Bushby KM. Bashir R, et al. Hum Mol Genet. 1994 Mar;3(3):455-7. doi: 10.1093/hmg/3.3.455. Hum Mol Genet. 1994. PMID: 8012357

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