Richard I - Search Results

1

[Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].

Villar Quiles RN, Richard I, Bouchet-Seraphin C, Stojkovic T. Villar Quiles RN, et al. Among authors: richard i. Med Sci (Paris). 2020 Dec;36 Hors série n° 2:28-33. doi: 10.1051/medsci/2020239. Epub 2021 Jan 11. Med Sci (Paris). 2020. PMID: 33427633 Free article. Review. French.

2

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al. Richard I, et al. Cell. 1995 Apr 7;81(1):27-40. doi: 10.1016/0092-8674(95)90368-2. Cell. 1995. PMID: 7720071 Free article.

3

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

4

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities.

Fardeau M, Eymard B, Mignard C, Tomé FM, Richard I, Beckmann JS. Fardeau M, et al. Among authors: richard i. Neuromuscul Disord. 1996 Dec;6(6):447-53. doi: 10.1016/s0960-8966(96)00387-2. Neuromuscul Disord. 1996. PMID: 9027854

5

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.

Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O, Richard I. Bartoli M, et al. Among authors: richard i. Mol Ther. 2006 Feb;13(2):250-9. doi: 10.1016/j.ymthe.2005.09.017. Epub 2005 Nov 14. Mol Ther. 2006. PMID: 16290124 Free article.

6

Ins and outs of therapy in limb girdle muscular dystrophies.

Danièle N, Richard I, Bartoli M. Danièle N, et al. Among authors: richard i. Int J Biochem Cell Biol. 2007;39(9):1608-24. doi: 10.1016/j.biocel.2007.02.005. Epub 2007 Feb 12. Int J Biochem Cell Biol. 2007. PMID: 17339125 Review.

7

Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.

Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, Richard I. Roudaut C, et al. Among authors: richard i. Circulation. 2013 Sep 3;128(10):1094-104. doi: 10.1161/CIRCULATIONAHA.113.001340. Epub 2013 Aug 1. Circulation. 2013. PMID: 23908349

8

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.

Gicquel E, Maizonnier N, Foltz SJ, Martin WJ, Bourg N, Svinartchouk F, Charton K, Beedle AM, Richard I. Gicquel E, et al. Among authors: richard i. Hum Mol Genet. 2017 May 15;26(10):1952-1965. doi: 10.1093/hmg/ddx066. Hum Mol Genet. 2017. PMID: 28334834 Free PMC article.

9

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B. Jonson PH, et al. Among authors: richard i. Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30. Eur J Neurol. 2018. PMID: 29437287 Free article.

10

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.

Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, Best H, Smith JE, Gohlke J, Corre G, Li X, Elbeck Z, Knöll R, Deschamps JY, Granzier H, Richard I. Lostal W, et al. Among authors: richard i. Sci Transl Med. 2019 Nov 27;11(520):eaat6072. doi: 10.1126/scitranslmed.aat6072. Sci Transl Med. 2019. PMID: 31776291 Free PMC article.

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