Ruberg M - Search Results

1

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

2

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

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

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

5

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

6

Parkinson's disease: from causes to mechanisms.

Corti O, Hampe C, Darios F, Ibanez P, Ruberg M, Brice A. Corti O, et al. Among authors: ruberg m. C R Biol. 2005 Feb;328(2):131-42. doi: 10.1016/j.crvi.2004.10.009. C R Biol. 2005. PMID: 15770999 Free article. Review.

7

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.

8

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.

Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O. Azzedine H, et al. Among authors: ruberg m. Neuromuscul Disord. 2003 May;13(4):341-6. Neuromuscul Disord. 2003. PMID: 12868504

9

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

10

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E. Dubourg O, et al. Among authors: ruberg m. Neurology. 2006 Jun 13;66(11):1721-6. doi: 10.1212/01.wnl.0000218304.02715.04. Neurology. 2006. PMID: 16769947

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