Ruberg M - Search Results

1

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A. David G, et al. Among authors: ruberg m. Nat Genet. 1997 Sep;17(1):65-70. doi: 10.1038/ng0997-65. Nat Genet. 1997. PMID: 9288099

2

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

Stevanin G, Giunti P, Belal GD, Dürr A, Ruberg M, Wood N, Brice A. Stevanin G, et al. Among authors: ruberg m. Hum Mol Genet. 1998 Oct;7(11):1809-13. doi: 10.1093/hmg/7.11.1809. Hum Mol Genet. 1998. PMID: 9736784

3

Recent advances in the genetics of spastic paraplegias.

Stevanin G, Ruberg M, Brice A. Stevanin G, et al. Among authors: ruberg m. Curr Neurol Neurosci Rep. 2008 May;8(3):198-210. doi: 10.1007/s11910-008-0032-z. Curr Neurol Neurosci Rep. 2008. PMID: 18541115 Review.

4

Distribution of ataxin-7 in normal human brain and retina.

Cancel G, Duyckaerts C, Holmberg M, Zander C, Yvert G, Lebre AS, Ruberg M, Faucheux B, Agid Y, Hirsch E, Brice A. Cancel G, et al. Among authors: ruberg m. Brain. 2000 Dec;123 Pt 12:2519-30. doi: 10.1093/brain/123.12.2519. Brain. 2000. PMID: 11099453

5

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. Among authors: ruberg m. Am J Hum Genet. 1994 Jan;54(1):11-20. Am J Hum Genet. 1994. PMID: 8279460 Free PMC article.

6

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. Stevanin G, et al. Among authors: ruberg m. Arch Neurol. 2004 Aug;61(8):1242-8. doi: 10.1001/archneur.61.8.1242. Arch Neurol. 2004. PMID: 15313841

7

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity.

Latouche M, Fragner P, Martin E, El Hachimi KH, Zander C, Sittler A, Ruberg M, Brice A, Stevanin G. Latouche M, et al. Among authors: ruberg m. Mol Cell Neurosci. 2006 Mar;31(3):438-45. doi: 10.1016/j.mcn.2005.10.013. Epub 2005 Dec 1. Mol Cell Neurosci. 2006. PMID: 16325416

8

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: ruberg m. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322883 Free article.

9

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Lévy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E. Lopes J, et al. Among authors: ruberg m. Hum Mol Genet. 1998 Jan;7(1):141-8. doi: 10.1093/hmg/7.1.141. Hum Mol Genet. 1998. PMID: 9384615

10

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G. Bouslam N, et al. Among authors: ruberg m. Ann Neurol. 2005 Apr;57(4):567-71. doi: 10.1002/ana.20416. Ann Neurol. 2005. PMID: 15786464

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