Richard I - Search Results

1

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B. Charton K, et al. Among authors: richard i. Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15. Hum Mol Genet. 2015. PMID: 25877298

2

Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy.

Richard I, Broux O, Hillaire D, Cherif D, Fougerousse F, Cohen D, Beckmann JS. Richard I, et al. Hum Mol Genet. 1992 Nov;1(8):621-4. doi: 10.1093/hmg/1.8.621. Hum Mol Genet. 1992. PMID: 1363783

3

A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.

Chiannilkulchai N, Pasturaud P, Richard I, Auffray C, Beckmann JS. Chiannilkulchai N, et al. Among authors: richard i. Hum Mol Genet. 1995 Apr;4(4):717-25. doi: 10.1093/hmg/4.4.717. Hum Mol Genet. 1995. PMID: 7633422

4

Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.

Allamand V, Broux O, Richard I, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Pereira de Souza A, et al. Allamand V, et al. Among authors: richard i. Am J Hum Genet. 1995 Jun;56(6):1417-30. Am J Hum Genet. 1995. PMID: 7762565 Free PMC article.

5

Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.

Allamand V, Broux O, Bourg N, Richard I, Tischfield JA, Hodes ME, Conneally PM, Fardeau M, Jackson CE, Beckmann JS. Allamand V, et al. Among authors: richard i. Hum Mol Genet. 1995 Mar;4(3):459-63. doi: 10.1093/hmg/4.3.459. Hum Mol Genet. 1995. PMID: 7795603

6

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS. Richard I, et al. Am J Hum Genet. 1997 May;60(5):1128-38. Am J Hum Genet. 1997. PMID: 9150160 Free PMC article.

7

Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events.

Herasse M, Ono Y, Fougerousse F, Kimura E, Stockholm D, Beley C, Montarras D, Pinset C, Sorimachi H, Suzuki K, Beckmann JS, Richard I. Herasse M, et al. Among authors: richard i. Mol Cell Biol. 1999 Jun;19(6):4047-55. doi: 10.1128/MCB.19.6.4047. Mol Cell Biol. 1999. PMID: 10330145 Free PMC article.

8

Calpainopathy-a survey of mutations and polymorphisms.

Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS. Richard I, et al. Am J Hum Genet. 1999 Jun;64(6):1524-40. doi: 10.1086/302426. Am J Hum Genet. 1999. PMID: 10330340 Free PMC article.

9

Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.

Fougerousse F, Bullen P, Herasse M, Lindsay S, Richard I, Wilson D, Suel L, Durand M, Robson S, Abitbol M, Beckmann JS, Strachan T. Fougerousse F, et al. Among authors: richard i. Hum Mol Genet. 2000 Jan 22;9(2):165-73. doi: 10.1093/hmg/9.2.165. Hum Mol Genet. 2000. PMID: 10607827

10

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.

Richard I, Roudaut C, Marchand S, Baghdiguian S, Herasse M, Stockholm D, Ono Y, Suel L, Bourg N, Sorimachi H, Lefranc G, Fardeau M, Sébille A, Beckmann JS. Richard I, et al. J Cell Biol. 2000 Dec 25;151(7):1583-90. doi: 10.1083/jcb.151.7.1583. J Cell Biol. 2000. PMID: 11134085 Free PMC article.

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