Ruberg M - Search Results

1

How much phenotypic variation can be attributed to parkin genotype?

Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Lohmann E, et al. Among authors: ruberg m. Ann Neurol. 2003 Aug;54(2):176-85. doi: 10.1002/ana.10613. Ann Neurol. 2003. PMID: 12891670

2

Subtle cognitive impairment but no dementia in patients with spastin mutations.

Tallaksen CM, Guichart-Gomez E, Verpillat P, Hahn-Barma V, Ruberg M, Fontaine B, Brice A, Dubois B, Durr A. Tallaksen CM, et al. Among authors: ruberg m. Arch Neurol. 2003 Aug;60(8):1113-8. doi: 10.1001/archneur.60.8.1113. Arch Neurol. 2003. PMID: 12925368

3

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

4

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A. Dürr A, et al. Among authors: ruberg m. Arch Neurol. 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867. Arch Neurol. 2004. PMID: 15596607

5

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.

Lesage S, Leclere L, Lohmann E, Borg M, Ruberg M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: ruberg m. Neurodegener Dis. 2007;4(2-3):195-8. doi: 10.1159/000101844. Neurodegener Dis. 2007. PMID: 17596714

6

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.

7

Dopamine denervation, age of onset, and Parkinson's disease.

Ruberg M, Scherman D, Javoy-Agid F, Agid Y. Ruberg M, et al. Neurology. 1995 Feb;45(2):392. doi: 10.1212/wnl.45.2.392. Neurology. 1995. PMID: 7854549 No abstract available.

8

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A. Namekawa M, et al. Among authors: ruberg m. Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e. Neurology. 2006. PMID: 16401858

9

The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates.

Gu WJ, Corti O, Araujo F, Hampe C, Jacquier S, Lücking CB, Abbas N, Duyckaerts C, Rooney T, Pradier L, Ruberg M, Brice A. Gu WJ, et al. Among authors: ruberg m. Neurobiol Dis. 2003 Dec;14(3):357-64. doi: 10.1016/j.nbd.2003.08.011. Neurobiol Dis. 2003. PMID: 14678753

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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