Stevanin G - Search Results

1

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.

Panza E, Pippucci T, Cusano R, Lo Nigro C, Pradella L, Contardi S, Rouleau GA, Stevanin G, Ravazzolo R, Liguori R, Montagna P, Romeo G, Seri M. Panza E, et al. Among authors: stevanin g. Eur J Neurol. 2008 May;15(5):520-4. doi: 10.1111/j.1468-1331.2008.02117.x. Eur J Neurol. 2008. PMID: 18394049

2

Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families.

Dichgans M, Schöls L, Herzog J, Stevanin G, Weirich-Schwaiger H, Rouleau G, Bürk K, Klockgether T, Zühlke C, Laccone F, Riess O, Gasser T. Dichgans M, et al. Among authors: stevanin g. Neurology. 1999 Mar 10;52(4):849-51. doi: 10.1212/wnl.52.4.849. Neurology. 1999. PMID: 10078738

3

A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

Ribai P, Stevanin G, Bouslam N, Pontier B, Nelson I, Fontaine B, Dussert C, Charon C, Durr A, Brice A. Ribai P, et al. Among authors: stevanin g. J Neurol. 2006 Jun;253(6):714-9. doi: 10.1007/s00415-006-0094-2. Epub 2006 Mar 6. J Neurol. 2006. PMID: 16511635

4

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL, Denis E, Cruz VT, Dürr A, Prud'homme JF, Weissenbach J, Brice A, Hazan J. Stevanin G, et al. Neurology. 2007 May 22;68(21):1837-40. doi: 10.1212/01.wnl.0000262043.53386.22. Neurology. 2007. PMID: 17515546

5

SYNE1 mutations in autosomal recessive cerebellar ataxia.

Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA. Noreau A, et al. Among authors: stevanin g. JAMA Neurol. 2013 Oct;70(10):1296-31. doi: 10.1001/jamaneurol.2013.3268. JAMA Neurol. 2013. PMID: 23959263

6

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F. Esteves T, et al. Among authors: stevanin g. Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2. Am J Hum Genet. 2014. PMID: 24388663 Free PMC article.

7

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Coutelier M, et al. Among authors: stevanin g. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29. Brain. 2015. PMID: 26026163 Free PMC article.

8

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus.

Belal S, Cancel G, Stevanin G, Hentati F, Khati C, Ben Hamida C, Auburger G, Agid Y, Ben Hamida M, Brice A. Belal S, et al. Among authors: stevanin g. Neurology. 1994 Aug;44(8):1423-6. doi: 10.1212/wnl.44.8.1423. Neurology. 1994. PMID: 8058142

9

Familial essential tremor and idiopathic torsion dystonia are different genetic entities.

Dürr A, Stevanin G, Jedynak CP, Penet C, Agid Y, Brice A. Dürr A, et al. Among authors: stevanin g. Neurology. 1993 Nov;43(11):2212-4. doi: 10.1212/wnl.43.11.2212. Neurology. 1993. PMID: 8232931

10

Mutation detection in Machado-Joseph disease using repeat expansion detection.

Lindblad K, Lunkes A, Maciel P, Stevanin G, Zander C, Klockgether T, Ratzlaff T, Brice A, Rouleau GA, Hudson T, Auburger G, Schalling M. Lindblad K, et al. Among authors: stevanin g. Mol Med. 1996 Jan;2(1):77-85. Mol Med. 1996. PMID: 8900536 Free PMC article.

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