Brice A - Search Results

1

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Stevanin G, et al. Among authors: brice a. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322883 Free article.

2

PARK6-linked parkinsonism occurs in several European families.

Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Among authors: brice a. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979

3

Complex relationship between Parkin mutations and Parkinson disease.

West A, Periquet M, Lincoln S, Lücking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze JF, Maraganore D, Levey A, Wood N, Dürr A, Hardy J, Brice A, Farrer M; French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility on Parkinson's Disease. West A, et al. Among authors: brice a. Am J Med Genet. 2002 Jul 8;114(5):584-91. doi: 10.1002/ajmg.10525. Am J Med Genet. 2002. PMID: 12116199

4

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

Nabbout R, Prud'homme JF, Herman A, Feingold J, Brice A, Dulac O, LeGuern E. Nabbout R, et al. Among authors: brice a. Brain. 2002 Dec;125(Pt 12):2668-80. doi: 10.1093/brain/awf281. Brain. 2002. PMID: 12429594

5

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.

Darios F, Corti O, Lücking CB, Hampe C, Muriel MP, Abbas N, Gu WJ, Hirsch EC, Rooney T, Ruberg M, Brice A. Darios F, et al. Among authors: brice a. Hum Mol Genet. 2003 Mar 1;12(5):517-26. doi: 10.1093/hmg/ddg044. Hum Mol Genet. 2003. PMID: 12588799

6

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.

Ravisé N, Dubourg O, Tardieu S, Aurias F, Mercadiel M, Coullin P, Ruberg M, Catala M, Lesourd S, Brice A, LeGuern E. Ravisé N, et al. Among authors: brice a. Am J Med Genet A. 2003 Apr 1;118A(1):43-8. doi: 10.1002/ajmg.a.10190. Am J Med Genet A. 2003. PMID: 12605439

7

Spinocerebellar ataxias caused by polyglutamine expansions.

Stevanin G, Dürr A, Brice A. Stevanin G, et al. Among authors: brice a. Adv Exp Med Biol. 2002;516:47-77. doi: 10.1007/978-1-4615-0117-6_3. Adv Exp Med Biol. 2002. PMID: 12611435 Review. No abstract available.

8

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E. Birouk N, et al. Among authors: brice a. Arch Neurol. 2003 Apr;60(4):598-604. doi: 10.1001/archneur.60.4.598. Arch Neurol. 2003. PMID: 12707075

9

Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Periquet M, et al. Among authors: brice a. Brain. 2003 Jun;126(Pt 6):1271-8. doi: 10.1093/brain/awg136. Brain. 2003. PMID: 12764050

10

The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration.

Corti O, Hampe C, Koutnikova H, Darios F, Jacquier S, Prigent A, Robinson JC, Pradier L, Ruberg M, Mirande M, Hirsch E, Rooney T, Fournier A, Brice A. Corti O, et al. Among authors: brice a. Hum Mol Genet. 2003 Jun 15;12(12):1427-37. doi: 10.1093/hmg/ddg159. Hum Mol Genet. 2003. PMID: 12783850

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