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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. Among authors: pandolfo m. 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
Friedreich's disease. A linkage study in southern and central Italy.
Cavalcanti F, Cocozza S, Filla A, De Michele G, Pianese L, Porcellini A, Monticelli A, Pandolfo M, Banfi S, Varrone S, et al. Cavalcanti F, et al. Among authors: pandolfo m. Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):519-23. Acta Neurol (Napoli). 1992. PMID: 1363458
Molecular analysis of the Friedreich's ataxia locus.
Chamberlain S, Koenig M, Richter A, Palau F, Pandolfo M. Chamberlain S, et al. Among authors: pandolfo m. Adv Neurol. 1993;61:193-204. Adv Neurol. 1993. PMID: 8421969 Review. No abstract available.
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: pandolfo m. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916
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. Among authors: pandolfo m. Nat Genet. 1997 Apr;15(4):337-8. doi: 10.1038/ng0497-337. Nat Genet. 1997. PMID: 9090376 No abstract available.
336 results