Publications

2006-2008

Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R (2008). Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. Public Library of Science Genetics. 4(9): e1000193.

Rosen RF, Farberg AS, Gearing M, Dooyema J, Long PM, Anderson DC, Davis-Turak J, Coppola G, Geschwind DH, Paré JF, Duong TQ, Hopkins WD, Preuss TM, Walker LC (2008). Tauopathy with paired helical filaments in an aged chimpanzee. Journal of Comparative Neurology. 509(3): 259-70.

Ringman JM, Younkin SG, Pratico D, Seltzer W, Cole G, Geschwind DH, Rodriguez Y, Schaffer BAJ, Fein J, Gylys KH, Varpetian A, Medina LD, Cummings JL (2008). Biochemical markers in persons with preclinical familial Alzheimer’s disease. Neurology. 71(2): 85-92.

Abu-Elneel K, Liu T, Gazzaniga FS, Nishimura Y, Wall DP, Geschwind DH, Lao K, Kosik KS (2008). Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics. 9(3): 153-61.

Coppola G, Karydas A, Rademakers R, Baker M, Hutton M, Miller BL, Geschwind DH (2008). Gene expression study on peripheral blood identifies progranulin mutations. Annals of Neurology. 64(1): 92-6.

Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O’Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futureal PA, Stratton MR, Mulley JC, Gecz J (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics. 40(6): 776-81.

Lange PS, Chavez JD, Pinto JT, Coppola G, Sun CW, Townes TM, Geschwind DH, Ratan RR (2008). ATF4 is an oxidative stress-inducible, prodeath transcription factor in neurons in vitro and in vivo. Journal of Experimental Medicine. 205(5): 1227-42.

Rai M, Sorgani E, Jenssen K, Burnett R, Herman D, Coppola G, Geschwind DH, Gottesfeld JM, Pandolfo M (2008). HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. Public Library of Science ONE. 3(4): e1958.

Mazefsky CA, Goin-Kochel RP, Riley BP, Maes HH, The Autism Genetic Resource Exchange Consortium (2008). Genetic and environmental influences on symptom domains in twins and siblings with autism. Research on Autism Spectrum Disorders. 2(2): 320-31.

Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, Hijmans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39(3): 319-28.