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209 results

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Page 1
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.
Bae BI, Tietjen I, Atabay KD, Evrony GD, Johnson MB, Asare E, Wang PP, Murayama AY, Im K, Lisgo SN, Overman L, Šestan N, Chang BS, Barkovich AJ, Grant PE, Topçu M, Politsky J, Okano H, Piao X, Walsh CA. Bae BI, et al. Among authors: topcu m. Science. 2014 Feb 14;343(6172):764-8. doi: 10.1126/science.1244392. Science. 2014. PMID: 24531968 Free PMC article.
Somatic mutations in cerebral cortical malformations.
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Jamuar SS, et al. Among authors: topcu m. N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432. N Engl J Med. 2014. PMID: 25140959 Free PMC article.
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. Poduri A, et al. Among authors: topcu m. Brain Dev. 2010 Aug;32(7):550-5. doi: 10.1016/j.braindev.2009.08.005. Epub 2009 Sep 13. Brain Dev. 2010. PMID: 19751967 Free PMC article.
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Yu TW, et al. Among authors: topcu m. Nat Genet. 2010 Nov;42(11):1015-20. doi: 10.1038/ng.683. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890278 Free PMC article.
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. Shen J, et al. Among authors: topcu m. Nat Genet. 2010 Mar;42(3):245-9. doi: 10.1038/ng.526. Epub 2010 Jan 31. Nat Genet. 2010. PMID: 20118933 Free PMC article.
Autosomal recessive form of periventricular heterotopia.
Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA. Sheen VL, et al. Among authors: topcu m. Neurology. 2003 Apr 8;60(7):1108-12. doi: 10.1212/01.wnl.0000055898.00349.02. Neurology. 2003. PMID: 12682315
209 results