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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Brockington M, et al. Among authors: burgunder jm. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. doi: 10.1093/hmg/10.25.2851. Hum Mol Genet. 2001. PMID: 11741828
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. Among authors: burgunder jm. Am J Hum Genet. 1997 May;60(5):1128-38. Am J Hum Genet. 1997. PMID: 9150160 Free PMC article.
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies.
Richard I, Bourg N, Marchand S, Alibert O, Eymard B, van der Kooi AJ, Jackson CE, Garcia C, Burgunder JM, Legum C, de Visser M, Fardeau M, Beckmann JS. Richard I, et al. Among authors: burgunder jm. Neuromuscul Disord. 1999 Dec;9(8):555-63. doi: 10.1016/s0960-8966(99)00037-1. Neuromuscul Disord. 1999. PMID: 10619713
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Dürr A, Hazan J. Fonknechten N, et al. Among authors: burgunder jm. Hum Mol Genet. 2000 Mar 1;9(4):637-44. doi: 10.1093/hmg/9.4.637. Hum Mol Genet. 2000. PMID: 10699187
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Hazan J, et al. Among authors: burgunder jm. Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472. Nat Genet. 1999. PMID: 10610178
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Dürr A, Davoine CS, Paternotte C, von Fellenberg J, Cogilinicean S, Coutinho P, Lamy C, Bourgeois S, Prud'homme JF, Penet C, Mas JL, Burgunder JM, Hazan J, Weissenbach J, Brice A, Fontaine B. Dürr A, et al. Among authors: burgunder jm. Brain. 1996 Oct;119 ( Pt 5):1487-96. doi: 10.1093/brain/119.5.1487. Brain. 1996. PMID: 8931574
201 results