Campuzano V - Search Results

1

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.

McCormack ML, Guttmann RP, Schumann M, Farmer JM, Stolle CA, Campuzano V, Koenig M, Lynch DR. McCormack ML, et al. Among authors: campuzano v. J Neurol Neurosurg Psychiatry. 2000 May;68(5):661-4. doi: 10.1136/jnnp.68.5.661. J Neurol Neurosurg Psychiatry. 2000. PMID: 10766903 Free PMC article.

2

Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

Koutnikova H, Campuzano V, Koenig M. Koutnikova H, et al. Among authors: campuzano v. Hum Mol Genet. 1998 Sep;7(9):1485-9. doi: 10.1093/hmg/7.9.1485. Hum Mol Genet. 1998. PMID: 9700204

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: campuzano v. 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

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. Among authors: campuzano v. 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.

5

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

Koutnikova H, Campuzano V, Foury F, Dollé P, Cazzalini O, Koenig M. Koutnikova H, et al. Among authors: campuzano v. Nat Genet. 1997 Aug;16(4):345-51. doi: 10.1038/ng0897-345. Nat Genet. 1997. PMID: 9241270

6

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.

Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Dürr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M. Campuzano V, et al. Hum Mol Genet. 1997 Oct;6(11):1771-80. doi: 10.1093/hmg/6.11.1771. Hum Mol Genet. 1997. PMID: 9302253

7

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. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916

8

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: campuzano v. Nat Genet. 1997 Apr;15(4):337-8. doi: 10.1038/ng0497-337. Nat Genet. 1997. PMID: 9090376 No abstract available.

9

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.

Montermini L, Rodius F, Pianese L, Moltò MD, Cossée M, Campuzano V, Cavalcanti F, Monticelli A, Palau F, Gyapay G, et al. Montermini L, et al. Among authors: campuzano v. Am J Hum Genet. 1995 Nov;57(5):1061-7. Am J Hum Genet. 1995. PMID: 7485155 Free PMC article.

10

Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.

Segura-Puimedon M, Sahún I, Velot E, Dubus P, Borralleras C, Rodrigues AJ, Valero MC, Valverde O, Sousa N, Herault Y, Dierssen M, Pérez-Jurado LA, Campuzano V. Segura-Puimedon M, et al. Among authors: campuzano v. Hum Mol Genet. 2014 Dec 15;23(24):6481-94. doi: 10.1093/hmg/ddu368. Epub 2014 Jul 15. Hum Mol Genet. 2014. PMID: 25027326

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