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323 results

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Page 1
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.
Combes P, Bonnet-Dupeyron MN, Gauthier-Barichard F, Schiffmann R, Bertini E, Rodriguez D, Armour JA, Boespflug-Tanguy O, Vaurs-Barrière C. Combes P, et al. Among authors: schiffmann r. Neurogenetics. 2006 Mar;7(1):31-7. doi: 10.1007/s10048-005-0021-1. Epub 2006 Jan 17. Neurogenetics. 2006. PMID: 16416265
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R, Bertini E, Rodriguez D, Vago P, Armour JA, Saugier-Veber P, Frebourg T, Leach RJ, Boespflug-Tanguy O. Vaurs-Barriere C, et al. Among authors: schiffmann r. Ann Hum Genet. 2006 Jan;70(Pt 1):66-77. doi: 10.1111/j.1529-8817.2005.00208.x. Ann Hum Genet. 2006. PMID: 16441258
Insertion of mutant proteolipid protein results in missorting of myelin proteins.
Vaurs-Barriere C, Wong K, Weibel TD, Abu-Asab M, Weiss MD, Kaneski CR, Mixon TH, Bonavita S, Creveaux I, Heiss JD, Tsokos M, Goldin E, Quarles RH, Boespflug-Tanguy O, Schiffmann R. Vaurs-Barriere C, et al. Among authors: schiffmann r. Ann Neurol. 2003 Dec;54(6):769-80. doi: 10.1002/ana.10762. Ann Neurol. 2003. PMID: 14681886 Free PMC article.
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
Huyghe A, Horzinski L, Hénaut A, Gaillard M, Bertini E, Schiffmann R, Rodriguez D, Dantal Y, Boespflug-Tanguy O, Fogli A. Huyghe A, et al. Among authors: schiffmann r. PLoS One. 2012;7(6):e38264. doi: 10.1371/journal.pone.0038264. Epub 2012 Jun 21. PLoS One. 2012. PMID: 22737209 Free PMC article.
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O. Fogli A, et al. Among authors: schiffmann r. Neurology. 2004 May 11;62(9):1509-17. doi: 10.1212/01.wnl.0000123259.67815.db. Neurology. 2004. PMID: 15136673
An update on the leukodsytrophies.
Schiffmann R, Boespflüg-Tanguy O. Schiffmann R, et al. Curr Opin Neurol. 2001 Dec;14(6):789-94. doi: 10.1097/00019052-200112000-00018. Curr Opin Neurol. 2001. PMID: 11723390 Review.
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O. Fogli A, et al. Among authors: schiffmann r. Am J Hum Genet. 2003 Jun;72(6):1544-50. doi: 10.1086/375404. Epub 2003 Apr 21. Am J Hum Genet. 2003. PMID: 12707859 Free PMC article.
323 results