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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R. Zhang X, et al. Among authors: mochida gh. Am J Hum Genet. 2014 Apr 3;94(4):547-58. doi: 10.1016/j.ajhg.2014.03.003. Epub 2014 Mar 20. Am J Hum Genet. 2014. PMID: 24656866 Free PMC article.
Molecular genetics of human microcephaly.
Mochida GH, Walsh CA. Mochida GH, et al. Curr Opin Neurol. 2001 Apr;14(2):151-6. doi: 10.1097/00019052-200104000-00003. Curr Opin Neurol. 2001. PMID: 11262728 Review.
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA. Sheen VL, et al. Among authors: mochida gh. Hum Mol Genet. 2001 Aug 15;10(17):1775-83. doi: 10.1093/hmg/10.17.1775. Hum Mol Genet. 2001. PMID: 11532987
Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA. Mochida GH, et al. J Med Genet. 2004 Jun;41(6):e87. doi: 10.1136/jmg.2003.014779. J Med Genet. 2004. PMID: 15173253 Free PMC article. No abstract available.
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, Jurka J, Masumoto H, Larionov V. Kouprina N, et al. Among authors: mochida gh. Hum Mol Genet. 2005 Aug 1;14(15):2155-65. doi: 10.1093/hmg/ddi220. Epub 2005 Jun 22. Hum Mol Genet. 2005. PMID: 15972725
52 results