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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Sheen VL, et al. Among authors: apse k. Neurology. 2005 Jan 25;64(2):254-62. doi: 10.1212/01.WNL.0000149512.79621.DF. Neurology. 2005. PMID: 15668422
Cerebellar ataxia with progressive improvement.
Tsao JW, Neal J, Apse K, Stephan MJ, Dobyns WB, Hill RS, Walsh CA, Sheen VL. Tsao JW, et al. Among authors: apse k. Arch Neurol. 2006 Apr;63(4):594-7. doi: 10.1001/archneur.63.4.594. Arch Neurol. 2006. PMID: 16606775
Periventricular nodular heterotopia and Williams syndrome.
Ferland RJ, Gaitanis JN, Apse K, Tantravahi U, Walsh CA, Sheen VL. Ferland RJ, et al. Among authors: apse k. Am J Med Genet A. 2006 Jun 15;140(12):1305-11. doi: 10.1002/ajmg.a.31259. Am J Med Genet A. 2006. PMID: 16691586
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. Among authors: apse k. 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.
20 results