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De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G. Djordjevic D, et al. Among authors: bernard g. Am J Hum Genet. 2021 Jan 7;108(1):186-193. doi: 10.1016/j.ajhg.2020.12.002. Am J Hum Genet. 2021. PMID: 33417887 Free PMC article.
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.
Exome sequencing identifies FUS mutations as a cause of essential tremor.
Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupré N, Bernard G, Chouinard S, Dion PA, Rouleau GA. Merner ND, et al. Among authors: bernard g. Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863194 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.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Among authors: bernard g. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI. Cayami FK, et al. Among authors: bernard g. Neuropediatrics. 2015 Jun;46(3):221-8. doi: 10.1055/s-0035-1550148. Epub 2015 May 8. Neuropediatrics. 2015. PMID: 26011300
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno GÁ, Tran LT, Benko W, van der Knaap MS, van Spaendonk RM, Wolf NI, Bernard G. Gutierrez M, et al. Among authors: bernard g. Orphanet J Rare Dis. 2015 Jun 5;10:69. doi: 10.1186/s13023-015-0279-9. Orphanet J Rare Dis. 2015. PMID: 26045207 Free PMC article.
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI. Kevelam SH, et al. Among authors: bernard g. Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125040 Free PMC article.
892 results