Ruberg M - Search Results

1

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E. Azzedine H, et al. Among authors: ruberg m. Neurology. 2006 Aug 22;67(4):602-6. doi: 10.1212/01.wnl.0000230225.19797.93. Neurology. 2006. PMID: 16924012

2

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E. Bouhouche A, et al. Among authors: ruberg m. Brain. 2007 Apr;130(Pt 4):1062-75. doi: 10.1093/brain/awm014. Epub 2007 Mar 8. Brain. 2007. PMID: 17347251

3

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

4

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Dubourg O, et al. Among authors: ruberg m. Neuromolecular Med. 2006;8(1-2):75-86. doi: 10.1385/nmm:8:1-2:75. Neuromolecular Med. 2006. PMID: 16775368 Review.

5

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.

Ravisé N, Dubourg O, Tardieu S, Aurias F, Mercadiel M, Coullin P, Ruberg M, Catala M, Lesourd S, Brice A, LeGuern E. Ravisé N, et al. Among authors: ruberg m. Am J Med Genet A. 2003 Apr 1;118A(1):43-8. doi: 10.1002/ajmg.a.10190. Am J Med Genet A. 2003. PMID: 12605439

6

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

7

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

8

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.

9

Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.

Lopes J, Tardieu S, Silander K, Blair I, Vandenberghe A, Palau F, Ruberg M, Brice A, LeGuern E. Lopes J, et al. Among authors: ruberg m. Hum Mol Genet. 1999 Nov;8(12):2285-92. doi: 10.1093/hmg/8.12.2285. Hum Mol Genet. 1999. PMID: 10545609

10

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

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