Mochida GH - Search Results

1

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Ahmed MY, et al. Among authors: mochida gh. Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1. Neurology. 2015. PMID: 25832664 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

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA. Rajab A, et al. Among authors: mochida gh. Neurology. 2003 May 27;60(10):1664-7. doi: 10.1212/01.wnl.0000068548.58498.41. Neurology. 2003. PMID: 12771259

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

Cortical malformation and pediatric epilepsy: a molecular genetic approach.

Mochida GH. Mochida GH. J Child Neurol. 2005 Apr;20(4):300-3. doi: 10.1177/08830738050200040501. J Child Neurol. 2005. PMID: 15921229 Review.

7

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.

8

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

9

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.

10

Developmental and degenerative features in a complicated spastic paraplegia.

Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA. Manzini MC, et al. Among authors: mochida gh. Ann Neurol. 2010 Apr;67(4):516-25. doi: 10.1002/ana.21923. Ann Neurol. 2010. PMID: 20437587 Free PMC article.

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