Mochida GH - Search Results

1

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA. Mochida GH, et al. Nat Genet. 2012 Nov;44(11):1260-4. doi: 10.1038/ng.2425. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023333 Free PMC article.

2

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.

3

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

4

Genetic basis of developmental malformations of the cerebral cortex.

Mochida GH, Walsh CA. Mochida GH, et al. Arch Neurol. 2004 May;61(5):637-40. doi: 10.1001/archneur.61.5.637. Arch Neurol. 2004. PMID: 15148137 Review.

5

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.

6

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

7

ASPM mutations identified in patients with primary microcephaly and seizures.

Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA. Shen J, et al. Among authors: mochida gh. J Med Genet. 2005 Sep;42(9):725-9. doi: 10.1136/jmg.2004.027706. J Med Genet. 2005. PMID: 16141009 Free PMC article.

8

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

Rajab A, Yoo SY, Abdulgalil A, Kathiri S, Ahmed R, Mochida GH, Bodell A, Barkovich AJ, Walsh CA. Rajab A, et al. Among authors: mochida gh. Am J Med Genet A. 2006 Jul 15;140(14):1504-10. doi: 10.1002/ajmg.a.31288. Am J Med Genet A. 2006. PMID: 16761294 Free PMC article.

9

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.

Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME. Rajab A, et al. Among authors: mochida gh. Am J Med Genet A. 2007 Dec 1;143A(23):2761-7. doi: 10.1002/ajmg.a.31955. Am J Med Genet A. 2007. PMID: 17975804

10

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA. Mochida GH, et al. Am J Hum Genet. 2009 Dec;85(6):897-902. doi: 10.1016/j.ajhg.2009.10.027. Am J Hum Genet. 2009. PMID: 20004763 Free PMC article.

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