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4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.
Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G, Wolf NI. Vrij-van den Bos S, et al. Among authors: bernard g. Neuropediatrics. 2017 Jun;48(3):152-160. doi: 10.1055/s-0037-1599141. Epub 2017 Mar 1. Neuropediatrics. 2017. PMID: 28561206
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Bernard G, et al. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.
More than hypomyelination in Pol-III disorder.
Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. Vanderver A, et al. Among authors: bernard g. J Neuropathol Exp Neurol. 2013 Jan;72(1):67-75. doi: 10.1097/NEN.0b013e31827c99d2. J Neuropathol Exp Neurol. 2013. PMID: 23242285 Free PMC article.
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Daoud H, et al. Among authors: bernard g. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25. J Med Genet. 2013. PMID: 23355746
Hypomyelinating leukodystrophies: translational research progress and prospects.
Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Pouwels PJ, et al. Among authors: bernard g. Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24. Ann Neurol. 2014. PMID: 24916848 Free article. Review.
892 results