Richard I - 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: richard i. 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: richard i. 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. Among authors: richard i. Nat Genet. 1998 Sep;20(1):37-42. doi: 10.1038/1689. Nat Genet. 1998. PMID: 9731527

4

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A. Urtasun M, et al. Among authors: richard i. Brain. 1998 Sep;121 ( Pt 9):1735-47. doi: 10.1093/brain/121.9.1735. Brain. 1998. PMID: 9762961

5

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I, Beckmann J. Fardeau M, et al. Among authors: richard i. Brain. 1996 Feb;119 ( Pt 1):295-308. doi: 10.1093/brain/119.1.295. Brain. 1996. PMID: 8624690

6

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.

Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Haravuori H, et al. Among authors: richard i. Neurology. 2001 Apr 10;56(7):869-77. doi: 10.1212/wnl.56.7.869. Neurology. 2001. PMID: 11294923

7

Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human.

Richard I, Beckmann JS. Richard I, et al. Mamm Genome. 1996 May;7(5):377-9. doi: 10.1007/s003359900108. Mamm Genome. 1996. PMID: 8661728 No abstract available.

8

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

Pénisson-Besnier I, Richard I, Dubas F, Beckmann JS, Fardeau M. Pénisson-Besnier I, et al. Among authors: richard i. Muscle Nerve. 1998 Aug;21(8):1078-80. doi: 10.1002/(sici)1097-4598(199808)21:8<1078::aid-mus15>3.0.co;2-q. Muscle Nerve. 1998. PMID: 9655129

9

How neutral are synonymous codon mutations?

Richard I, Beckmann JS. Richard I, et al. Nat Genet. 1995 Jul;10(3):259. doi: 10.1038/ng0795-259. Nat Genet. 1995. PMID: 7670461 No abstract available.

10

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.

Kawai H, Akaike M, Kunishige M, Inui T, Adachi K, Kimura C, Kawajiri M, Nishida Y, Endo I, Kashiwagi S, Nishino H, Fujiwara T, Okuno S, Roudaut C, Richard I, Beckmann JS, Miyoshi K, Matsumoto T. Kawai H, et al. Among authors: richard i. Muscle Nerve. 1998 Nov;21(11):1493-501. doi: 10.1002/(sici)1097-4598(199811)21:11<1493::aid-mus19>3.0.co;2-1. Muscle Nerve. 1998. PMID: 9771675

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