Stevanin G - Search Results

1

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Among authors: stevanin g. Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27. Genet Med. 2020. PMID: 32713943 Free article.

2

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Brice A, Ravisé N, Stevanin G, Gugenheim M, Bouche P, Penet C, Agid Y. Brice A, et al. Among authors: stevanin g. J Med Genet. 1992 Nov;29(11):807-12. doi: 10.1136/jmg.29.11.807. J Med Genet. 1992. PMID: 1453432 Free PMC article.

3

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.

4

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

5

Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia.

Fontaine B, Rime CS, Hazan J, Dürr A, Stevanin G, Penet C, Reboul J, Agid Y, Lyon-Caen O, Baumann N, et al. Fontaine B, et al. Among authors: stevanin g. Neuromuscul Disord. 1995 Jan;5(1):11-7. doi: 10.1016/0960-8966(94)e0024-3. Neuromuscul Disord. 1995. PMID: 7719135

6

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.

7

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

8

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.

Benomar A, Le Guern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A. Benomar A, et al. Among authors: stevanin g. Ann Neurol. 1994 Apr;35(4):439-44. doi: 10.1002/ana.410350411. Ann Neurol. 1994. PMID: 8154871

9

Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families.

Khati C, Stevanin G, Durr A, Chneiweiss H, Belal S, Seck A, Cann H, Brice A, Agid Y. Khati C, et al. Among authors: stevanin g. Neurology. 1993 Jun;43(6):1131-7. doi: 10.1212/wnl.43.6.1131. Neurology. 1993. PMID: 8170557

10

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

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