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Page 1
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M. Moreira MC, et al. Among authors: bomont p. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8. Nat Genet. 2004. PMID: 14770181 Free article.
Identification of seven novel mutations in the GAN gene.
Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M. Bomont P, et al. Hum Mutat. 2003 Apr;21(4):446. doi: 10.1002/humu.9122. Hum Mutat. 2003. PMID: 12655563
Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
Cavalier L, BenHamida C, Amouri R, Belal S, Bomont P, Lagarde N, Gressin L, Callen D, Demir E, Topaloglu H, Landrieu P, Ioos C, Hamida MB, Koenig M, Hentati F. Cavalier L, et al. Among authors: bomont p. Eur J Hum Genet. 2000 Jul;8(7):527-34. doi: 10.1038/sj.ejhg.5200476. Eur J Hum Genet. 2000. PMID: 10909853
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Angebault C, et al. Among authors: bomont p. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Am J Hum Genet. 2015. PMID: 26593267 Free PMC article.
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J. Jaglin XH, et al. Among authors: bomont p. Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24. Nat Genet. 2009. PMID: 19465910 Free PMC article.
Giant axonal neuropathy: clinical and genetic study in six cases.
Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G, Muftuoglu S, Cakar AN, Tan E, Aysun S, Topcu M, Guicheney P, Koenig M, Topaloglu H. Demir E, et al. Among authors: bomont p. J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):825-32. doi: 10.1136/jnnp.2003.035162. J Neurol Neurosurg Psychiatry. 2005. PMID: 15897506 Free PMC article.
32 results