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Page 1
Clinical findings and linkage studies in familial tuberous sclerosis.
Short MP, Haines J, Jewell A, Bejjani B, Yang CH, Wyandt H, MacFarlane H, Andermann E, Kwiatkowski D, Amos J. Short MP, et al. Among authors: andermann e. Ann N Y Acad Sci. 1991;615:380-1. doi: 10.1111/j.1749-6632.1991.tb37788.x. Ann N Y Acad Sci. 1991. PMID: 1645505 No abstract available.
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AMW, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJJ, Andermann E. Jansen AC, et al. Among authors: andermann e, andermann f. Ann Neurol. 2006 Nov;60(5):528-539. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.
Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B. Hedera P, et al. Among authors: andermann e, andermann f. Neurology. 2007 Jun 12;68(24):2107-12. doi: 10.1212/01.wnl.0000261246.75977.89. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377072
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
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
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
243 results