Ruberg M - Search Results

1

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E. Depienne C, et al. Among authors: ruberg m. Hum Mutat. 2006 Apr;27(4):389. doi: 10.1002/humu.9419. Hum Mutat. 2006. PMID: 16541393

2

Monogenic idiopathic epilepsies.

Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E. Gourfinkel-An I, et al. Among authors: ruberg m. Lancet Neurol. 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. Lancet Neurol. 2004. PMID: 15039033 Review.

3

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E. Depienne C, et al. Among authors: ruberg m. PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. PLoS Genet. 2009. PMID: 19214208 Free PMC article.

4

Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.

Naïmi M, Tardieu S, Depienne C, Ruberg M, Brice A, Dubourg O, Leguern E. Naïmi M, et al. Among authors: ruberg m. Am J Med Genet A. 2005 Jul 15;136(2):136-9. doi: 10.1002/ajmg.a.30790. Am J Med Genet A. 2005. PMID: 15940694

5

Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.

Chojnowski A, Ravisé N, Bachelin C, Depienne C, Ruberg M, Brugg B, Laporte J, Baron-Van Evercooren A, LeGuern E. Chojnowski A, et al. Among authors: ruberg m. Neurobiol Dis. 2007 May;26(2):323-31. doi: 10.1016/j.nbd.2006.12.018. Epub 2007 Jan 25. Neurobiol Dis. 2007. PMID: 17336078

6

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.

Depienne C, Fedirko E, Faucheux JM, Forlani S, Bricka B, Goizet C, Lesourd S, Stevanin G, Ruberg M, Durr A, Brice A. Depienne C, et al. Among authors: ruberg m. Neurogenetics. 2007 Aug;8(3):231-3. doi: 10.1007/s10048-007-0090-4. Epub 2007 Jun 28. Neurogenetics. 2007. PMID: 17597328

7

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.

Saint-Martin C, Bouteiller D, Stevanin G, Popescu C, Charon C, Ruberg M, Baulac S, LeGuern E, Labauge P, Depienne C. Saint-Martin C, et al. Among authors: ruberg m. Neurogenetics. 2008 Feb;9(1):69-71. doi: 10.1007/s10048-007-0107-z. Epub 2007 Nov 9. Neurogenetics. 2008. PMID: 17992546 No abstract available.

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

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

Nabbout R, Baulac S, Desguerre I, Bahi-Buisson N, Chiron C, Ruberg M, Dulac O, LeGuern E. Nabbout R, et al. Among authors: ruberg m. Neurology. 2007 Apr 24;68(17):1374-81. doi: 10.1212/01.wnl.0000260062.02829.e3. Neurology. 2007. PMID: 17452582

10

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.

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