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243 results

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Page 1
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: andermann e. 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.
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns WB, Guerrini R. Pisano T, et al. Among authors: andermann e, andermann f. Neurology. 2012 Sep 18;79(12):1244-51. doi: 10.1212/WNL.0b013e31826aac88. Epub 2012 Aug 22. Neurology. 2012. PMID: 22914838 Free PMC article.
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.
Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK. Smith RS, et al. Among authors: andermann e. Neuron. 2018 Sep 5;99(5):905-913.e7. doi: 10.1016/j.neuron.2018.07.052. Epub 2018 Aug 23. Neuron. 2018. PMID: 30146301 Free PMC article.
Duplication 2p16 is associated with perisylvian polymicrogyria.
Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Pichon B, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB. Amrom D, et al. Among authors: andermann e. Am J Med Genet A. 2019 Dec;179(12):2343-2356. doi: 10.1002/ajmg.a.61342. Epub 2019 Oct 29. Am J Med Genet A. 2019. PMID: 31660690
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al. Gleeson JG, et al. Among authors: andermann e. Ann Neurol. 1999 Feb;45(2):146-53. doi: 10.1002/1531-8249(199902)45:2<146::aid-ana3>3.0.co;2-n. Ann Neurol. 1999. PMID: 9989615
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: andermann e, andermann f. Neurology. 2005 Jan 25;64(2):254-62. doi: 10.1212/01.WNL.0000149512.79621.DF. Neurology. 2005. PMID: 15668422
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Leventer RJ, et al. Among authors: andermann e, andermann f. Brain. 2010 May;133(Pt 5):1415-27. doi: 10.1093/brain/awq078. Epub 2010 Apr 19. Brain. 2010. PMID: 20403963 Free PMC article.
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E. D'Agostino MD, et al. Among authors: andermann e, andermann f. Brain. 2002 Nov;125(Pt 11):2507-22. doi: 10.1093/brain/awf248. Brain. 2002. PMID: 12390976
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: andermann e, andermann f. Hum Mol Genet. 2001 Aug 15;10(17):1775-83. doi: 10.1093/hmg/10.17.1775. Hum Mol Genet. 2001. PMID: 11532987
Periventricular nodular heterotopia with overlying polymicrogyria.
Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB. Wieck G, et al. Among authors: andermann e. Brain. 2005 Dec;128(Pt 12):2811-21. doi: 10.1093/brain/awh658. Brain. 2005. PMID: 16311271
243 results