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Page 1
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB. Heinzen EL, et al. Among authors: middleton lt. Am J Hum Genet. 2010 May 14;86(5):707-18. doi: 10.1016/j.ajhg.2010.03.018. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398883 Free PMC article.
A genome-wide investigation of SNPs and CNVs in schizophrenia.
Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL, Shianna KV, Yoon W, Kasperaviciūte D, Gennarelli M, Strittmatter WJ, Bonvicini C, Rossi G, Jayathilake K, Cola PA, McEvoy JP, Keefe RS, Fisher EM, St Jean PL, Giegling I, Hartmann AM, Möller HJ, Ruppert A, Fraser G, Crombie C, Middleton LT, St Clair D, Roses AD, Muglia P, Francks C, Rujescu D, Meltzer HY, Goldstein DB. Need AC, et al. Among authors: middleton lt. PLoS Genet. 2009 Feb;5(2):e1000373. doi: 10.1371/journal.pgen.1000373. Epub 2009 Feb 6. PLoS Genet. 2009. PMID: 19197363 Free PMC article.
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
Kasperaviciūte D, Catarino CB, Heinzen EL, Depondt C, Cavalleri GL, Caboclo LO, Tate SK, Jamnadas-Khoda J, Chinthapalli K, Clayton LM, Shianna KV, Radtke RA, Mikati MA, Gallentine WB, Husain AM, Alhusaini S, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Heuser K, Amos L, Ortega M, Zumsteg D, Wieser HG, Steinhoff BJ, Krämer G, Hansen J, Dorn T, Kantanen AM, Gjerstad L, Peuralinna T, Hernandez DG, Eriksson KJ, Kälviäinen RK, Doherty CP, Wood NW, Pandolfo M, Duncan JS, Sander JW, Delanty N, Goldstein DB, Sisodiya SM. Kasperaviciūte D, et al. Among authors: middleton lt. Brain. 2010 Jul;133(Pt 7):2136-47. doi: 10.1093/brain/awq130. Epub 2010 Jun 3. Brain. 2010. PMID: 20522523 Free PMC article.
Age at onset in two common neurodegenerative diseases is genetically controlled.
Li YJ, Scott WK, Hedges DJ, Zhang F, Gaskell PC, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Allen FA Jr, Goetz CG, Mastaglia F, Stajich JM, Gibson RA, Middleton LT, Saunders AM, Scott BL, Small GW, Nicodemus KK, Reed AD, Schmechel DE, Welsh-Bohmer KA, Conneally PM, Roses AD, Gilbert JR, Vance JM, Haines JL, Pericak-Vance MA. Li YJ, et al. Among authors: middleton lt. Am J Hum Genet. 2002 Apr;70(4):985-93. doi: 10.1086/339815. Epub 2002 Mar 1. Am J Hum Genet. 2002. PMID: 11875758 Free PMC article.
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: middleton lt. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.
Li YJ, Oliveira SA, Xu P, Martin ER, Stenger JE, Scherzer CR, Hauser MA, Scott WK, Small GW, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Goetz CG, Mastaglia F, Middleton LT, Roses AD, Saunders AM, Schmechel DE, Gullans SR, Haines JL, Gilbert JR, Vance JM, Pericak-Vance MA, Hulette C, Welsh-Bohmer KA. Li YJ, et al. Among authors: middleton lt. Hum Mol Genet. 2003 Dec 15;12(24):3259-67. doi: 10.1093/hmg/ddg357. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570706
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.
Hauser ER, Crossman DC, Granger CB, Haines JL, Jones CJ, Mooser V, McAdam B, Winkelmann BR, Wiseman AH, Muhlestein JB, Bartel AG, Dennis CA, Dowdy E, Estabrooks S, Eggleston K, Francis S, Roche K, Clevenger PW, Huang L, Pedersen B, Shah S, Schmidt S, Haynes C, West S, Asper D, Booze M, Sharma S, Sundseth S, Middleton L, Roses AD, Hauser MA, Vance JM, Pericak-Vance MA, Kraus WE. Hauser ER, et al. Am J Hum Genet. 2004 Sep;75(3):436-47. doi: 10.1086/423900. Epub 2004 Jul 22. Am J Hum Genet. 2004. PMID: 15272420 Free PMC article.
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.
van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM. van der Walt JM, et al. Among authors: middleton lt. Am J Hum Genet. 2003 Apr;72(4):804-11. doi: 10.1086/373937. Epub 2003 Feb 28. Am J Hum Genet. 2003. PMID: 12618962 Free PMC article.
Complete genomic screen in Parkinson disease: evidence for multiple genes.
Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Masterman D, Mastaglia F, Laing NG, Stajich JM, Slotterbeck B, Booze MW, Ribble RC, Rampersaud E, West SG, Gibson RA, Middleton LT, Roses AD, Haines JL, Scott BL, Vance JM, Pericak-Vance MA. Scott WK, et al. Among authors: middleton lt. JAMA. 2001 Nov 14;286(18):2239-44. doi: 10.1001/jama.286.18.2239. JAMA. 2001. PMID: 11710888
Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease.
van der Walt JM, Martin ER, Scott WK, Zhang F, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Mastaglia F, Roses AD, Stajich JM, Booze MW, Fujiwara K, Gibson RA, Middleton LT, Scott BL, Pericak-Vance MA, Vance JM. van der Walt JM, et al. Among authors: middleton lt. Neurology. 2003 Apr 8;60(7):1189-91. doi: 10.1212/01.wnl.0000055929.84668.9a. Neurology. 2003. PMID: 12682333
157 results