Stevanin G - Search Results

1

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS. Hirst J, et al. Among authors: stevanin g. Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085577 Free PMC article.

2

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

Cancel G, Abbas N, Stevanin G, Dürr A, Chneiweiss H, Néri C, Duyckaerts C, Penet C, Cann HM, Agid Y, et al. Cancel G, et al. Among authors: stevanin g. Am J Hum Genet. 1995 Oct;57(4):809-16. Am J Hum Genet. 1995. PMID: 7573040 Free PMC article.

3

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.

Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Dürr A, Zaim A, et al. Benomar A, et al. Among authors: stevanin g. Nat Genet. 1995 May;10(1):84-8. doi: 10.1038/ng0595-84. Nat Genet. 1995. PMID: 7647798

4

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

Stevanin G, Cancel G, Dürr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y, Brice A. Stevanin G, et al. Am J Hum Genet. 1995 Jan;56(1):193-201. Am J Hum Genet. 1995. PMID: 7825578 Free PMC article.

5

Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.

Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A. Dubourg O, et al. Among authors: stevanin g. Ann Neurol. 1995 Feb;37(2):176-80. doi: 10.1002/ana.410370207. Ann Neurol. 1995. PMID: 7847859

6

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

7

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Stevanin G, Chneiweiss H, Le Guern E, Ravise N, Dürr A, Penet C, Agid Y, Brice A. Stevanin G, et al. Hum Mol Genet. 1993 Sep;2(9):1483-5. doi: 10.1093/hmg/2.9.1483. Hum Mol Genet. 1993. PMID: 8242077 No abstract available.

8

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, et al. Stevanin G, et al. Am J Hum Genet. 1994 Jan;54(1):11-20. Am J Hum Genet. 1994. PMID: 8279460 Free PMC article.

9

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.

Dürr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, Agid Y, Brice A. Dürr A, et al. Among authors: stevanin g. Brain. 1993 Dec;116 ( Pt 6):1497-508. doi: 10.1093/brain/116.6.1497. Brain. 1993. PMID: 8293283

10

SCA2 is not a major locus for ADCA type I in French families.

Cancel G, Stevanin G, Dürr A, Chneiweiss H, Penet C, Pothin Y, Agid Y, Brice A. Cancel G, et al. Among authors: stevanin g. Am J Med Genet. 1995 Oct 9;60(5):382-5. doi: 10.1002/ajmg.1320600507. Am J Med Genet. 1995. PMID: 8546150

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