Cossée M - Search Results

1

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M. Puccio H, et al. Among authors: cossee m. Nat Genet. 2001 Feb;27(2):181-6. doi: 10.1038/84818. Nat Genet. 2001. PMID: 11175786

2

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

3

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.

4

Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.

Monrós E, Cañizares J, Moltó MD, Rodius F, Montermini L, Cossée M, Martínez F, Prieto F, de Frutos R, Koenig M, Pandolfo M, Bertranpetit J, Palau F. Monrós E, et al. Among authors: cossee m. Eur J Hum Genet. 1996;4(4):191-8. doi: 10.1159/000472198. Eur J Hum Genet. 1996. PMID: 8875184

5

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.

6

Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.

Isnard R, Kalotka H, Dürr A, Cossée M, Schmitt M, Pousset F, Thomas D, Brice A, Koenig M, Komajda M. Isnard R, et al. Among authors: cossee m. Circulation. 1997 May 6;95(9):2247-9. doi: 10.1161/01.cir.95.9.2247. Circulation. 1997. PMID: 9142000

7

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M. Cossée M, et al. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7452-7. doi: 10.1073/pnas.94.14.7452. Proc Natl Acad Sci U S A. 1997. PMID: 9207112 Free PMC article.

8

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.

Zühlke C, Laccone F, Cossée M, Kohlschütter A, Koenig M, Schwinger E. Zühlke C, et al. Among authors: cossee m. Hum Genet. 1998 Jul;103(1):102-5. doi: 10.1007/s004390050791. Hum Genet. 1998. PMID: 9737785

9

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

10

G130V, a common FRDA point mutation, appears to have arisen from a common founder.

Delatycki MB, Knight M, Koenig M, Cossée M, Williamson R, Forrest SM. Delatycki MB, et al. Among authors: cossee m. Hum Genet. 1999 Oct;105(4):343-6. doi: 10.1007/s004399900142. Hum Genet. 1999. PMID: 10543403

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