Search Results - "Brenguier, Lydie"

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A by Richard, Isabelle, Broux, Odile, Allamand, Valéerie, Fougerousse, Françoise, Chiannilkulchai, Nuchanard, Bourg, Nathalie, Brenguier, Lydie, Devaud, Catherine, Pasturaud, Patricia, Roudaut, Carinne, Hillaire, Dominique, Passos-Bueno, Maria-Rita, Zatz, Mayana, Tischfield, Jay A, Fardeau, Michel, Jackson, Charles E, Cohen, Daniel, Beckmann, Jacques S

“…Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated. The autosomal recessive forms…”
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A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey by Dinçer, P, Leturcq, F, Richard, I, Piccolo, F, Yalnizoglu, D, de Toma, C, Akçören, Z, Broux, O, Deburgrave, N, Brenguier, L, Roudaut, C, Urtizberea, J A, Jung, D, Tan, E, Jeanpierre, M, Campbell, K P, Kaplan, J C, Beckmann, J S, Topaloglu, H

“…Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically heterogenous group of diseases involving at least six different…”
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Regional localization of human chromosome 15 loci by Richard, I, Broux, O, Chiannilkulchai, N, Fougerousse, F, Allamand, V, Bourg, N, Brenguier, L, Devaud, C, Pasturaud, P, Roudaut, C

“…One hundred forty-nine chromosome 15 loci were mapped by PCR with respect to chromosome breakpoints in three somatic cell hybrids retaining total or part of…”
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Targeted development of microsatellite markers from inter-Alu amplification of YAC clones by de Souza, A P, Allamand, V, Richard, I, Brenguier, L, Chumakov, I, Cohen, D, Beckmann, J S

“…Primary genetic maps based on highly informative markers are now available. The local density of these markers may, however, not be sufficient. There is thus a…”
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