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Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F. Esteves T, et al. Among authors: durr a. Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2. Am J Hum Genet. 2014. PMID: 24388663 Free PMC article.
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.
Stevanin G, Cancel G, Didierjean O, Dürr A, Abbas N, Cassa E, Feingold J, Agid Y, Brice A. Stevanin G, et al. Among authors: durr a. Am J Hum Genet. 1995 Nov;57(5):1247-50. Am J Hum Genet. 1995. PMID: 7485178 Free PMC article. No abstract available.
Diagnosis of "sporadic" Huntington's disease.
Dürr A, Dodé C, Hahn V, Pêcheux C, Pillon B, Feingold J, Kaplan JC, Agid Y, Brice A. Dürr A, et al. J Neurol Sci. 1995 Mar;129(1):51-5. doi: 10.1016/0022-510x(94)00250-r. J Neurol Sci. 1995. PMID: 7751845
750 results