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Page 1
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.
Vaché C, Faugère V, Baux D, Mansard L, Van Goethem C, Dhaenens CM, Grunewald O, Audo I, Zeitz C, Meunier I, Bocquet B, Cossée M, Bergougnoux A, Kalatzis V, Roux AF. Vaché C, et al. Among authors: cossee m. Eur J Hum Genet. 2024 Jul 5. doi: 10.1038/s41431-024-01649-0. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38969740
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Among authors: cossee m. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M. Dürr A, et al. Among authors: cossee m. N Engl J Med. 1996 Oct 17;335(16):1169-75. doi: 10.1056/NEJM199610173351601. N Engl J Med. 1996. PMID: 8815938 Free article.
Frataxin fracas.
Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M. Cossée M, et al. Nat Genet. 1997 Apr;15(4):337-8. doi: 10.1038/ng0497-337. Nat Genet. 1997. PMID: 9090376 No abstract available.
86 results