Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss

Por Benitez, Bruno A., Cairns, Nigel J., Schmidt, Robert E., Morris, John C., Norton, Joanne B., Cruchaga, Carlos, Sands, Mark S.
Publicado no Acta Neuropathol Commun (2015)

Phenotypic similarities between late-onset autosomal dominant and sporadic Alzheimer disease: A single-family case-control study

Por Day, Gregory S, Musiek, Erik S, Roe, Catherine M, Norton, Joanne, Goate, Alison M, Cruchaga, Carlos, Cairns, Nigel J, Morris, John C
Publicado no JAMA Neurol (2016)

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

Por Benitez, Bruno A., Alvarado, David, Cai, Yefei, Mayo, Kevin, Chakraverty, Sumitra, Norton, Joanne, Morris, John C., Sands, Mark S., Goate, Alison, Cruchaga, Carlos
Publicado em 2011

TMEM106B gene polymorphism is associated with age at onset in granulin mutation carriers and plasma granulin protein levels

Por Cruchaga, Carlos, Graff, Caroline, Chiang, Huei-Hsin, Wang, Jun, Hinrichs, Anthony L., Spiegel, Noah, Bertelsen, Sarah, Mayo, Kevin, Norton, Joanne B., Morris, John C., Goate, Alison
Publicado em 2011

Coding variants in TREM2 increase risk for Alzheimer's disease

Por Jin, Sheng Chih, Benitez, Bruno A., Karch, Celeste M., Cooper, Breanna, Skorupa, Tara, Carrell, David, Norton, Joanne B., Hsu, Simon, Harari, Oscar, Cai, Yefei, Bertelsen, Sarah, Goate, Alison M., Cruchaga, Carlos
Publicado em 2014

Variably Protease-Sensitive Prionopathy in An Apparent Cognitively Normal 93 Year Old

Por Ghoshal, Nupur, Perry, Arie, McKeel, Daniel, Schmidt, Robert E., Carter, Deborah, Norton, Joanne, Zou, Wen-Quan, Xiao, Xiangzhu, Puoti, Gianfranco, Notari, Silvio, Gambetti, Pierluigi, Morris, John C., Cairns, Nigel J.
Publicado no Alzheimer Dis Assoc Disord (2015)

SORL1 variants across Alzheimer's disease European American cohorts

Por Fernández, Maria Victoria, Black, Kathleen, Carrell, David, Saef, Ben, Budde, John, Deming, Yuetiva, Howells, Bill, Del-Aguila, Jorge L, Ma, Shengmei, Bi, Catherine, Norton, Joanne, Chasse, Rachel, Morris, John, Goate, Alison, Cruchaga, Carlos
Publicado no Eur J Hum Genet (2016)

Molecular Characterization of Novel Progranulin (GRN) Mutations in Frontotemporal Dementia

Por Mukherjee, Odity, Wang, Jun, Gitcho, Michael, Chakraverty, Sumi, Taylor-Reinwald, Lisa, Shears, Shantia, Kauwe, John S.K., Norton, Joanne, Levitch, Denise, Bigio, Eileen H., Hatanpaa, Kimmo J., White, Charles L., Morris, John C., Cairns, Nigel J., Goate, Alison
Publicado em 2008

TDP-43 A315T Mutation in Familial Motor Neuron Disease

Por Gitcho, Michael A., Baloh, Robert H., Chakraverty, Sumi, Mayo, Kevin, Norton, Joanne B., Levitch, Denise, Hatanpaa, Kimmo J., White, Charles L., Bigio, Eileen H., Caselli, Richard, Baker, Matt, Al-Lozi, Muhammad T., Morris, John C., Pestronk, Alan, Rademakers, Rosa, Goate, Alison M., Cairns, Nigel J.
Publicado em 2008

HDDD2 Is a Familial Frontotemporal Lobar Degeneration with Ubiquitin-Positive, Tau-Negative Inclusions Caused by a Missense Mutation in the Signal Peptide of Progranulin

Por Mukherjee, Odity, Pastor, Pau, Cairns, Nigel J., Chakraverty, Sumi, Kauwe, John S. K., Shears, Shantia, Behrens, Maria I., Budde, John, Hinrichs, Anthony L., Norton, Joanne, Levitch, Denise, Taylor-Reinwald, Lisa, Gitcho, Michael, Tu, P.-H., Grinberg, Lea Tenenholz, Liscic, Rajka M., Armendariz, Javier, Morris, John C., Goate, Alison M.
Publicado em 2006

Rare coding variants in Phospholipase D3 (PLD3) confer risk for Alzheimer's disease

Por Cruchaga, Carlos, Karch, Celeste M., Jin, Sheng Chih, Benitez, Bruno A., Cai, Yefei, Guerreiro, Rita, Harari, Oscar, Norton, Joanne, Budde, John, Bertelsen, Sarah, Jeng, Amanda T., Cooper, Breanna, Skorupa, Tara, Carrell, David, Levitch, Denise, Hsu, Simon, Choi, Jiyoon, Ryten, Mina, Sassi, Celeste, Bras, Jose, Gibbs, Raphael J., Hernandez, Dena G., Lupton, Michelle K., Powell, John, Forabosco, Paola, Ridge, Perry G., Corcoran, Christopher D., Tschanz, JoAnn T., Norton, Maria C., Munger, Ronald G., Schmutz, Cameron, Leary, Maegan, Demirci, F. Yesim, Bamne, Mikhil N., Wang, Xingbin, Lopez, Oscar L., Ganguli, Mary, Medway, Christopher, Turton, James, Lord, Jenny, Braae, Anne, Barber, Imelda, Brown, Kristelle, Pastor, Pau, Lorenzo-Betancor, Oswaldo, Brkanac, Zoran, Scott, Erick, Topol, Eric, Morgan, Kevin, Rogaeva, Ekaterina, Singleton, Andy, Hardy, John, Kamboh, M. Ilyas, George-Hyslop, Peter St, Cairns, Nigel, Morris, John C., Kauwe, John S.K., Goate, Alison M.
Publicado em 2013

Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory

Por Barral, S., Bird, T., Goate, A., Farlow, M.R., Diaz-Arrastia, R., Bennett, D.A., Graff-Radford, N., Boeve, B.F., Sweet, R.A., Stern, Y., Wilson, R.S., Foroud, T., Ott, J., Mayeux, R., Green, Robert, Kowall, Neil, Farrer, Lindsay, Williamson, Jennifer, Santana, Vincent, Schmechel, Donald, Gaskel, Peter, Ghetti, Bernardino, Farlow, Martin R., Faber, Kelley, Prentice, Heather, Horner, Kelly, Growdon, John H., Blacker, Deborah, Tanzi, Rudolph E., Hyman, Bradley T., Boeve, Bradley, Kuntz, Karen, Norgaard, Lindsay, Larson, Nathan, Kistler, Dana, Parfitt, Francine, Haddow, Jenny, Silverman, Jeremy, Beeri, Michal Schnaider, Sano, Mary, Wang, Joy, Lally, Rachel, Johnson, Nancy, Mesulam, Marcel, Weintraub, Sandra, Bigio, Eileen, Kaye, Jeffery, Kramer, Patricia, Payne-Murphy, Jessica, Bennett, David, Jacobs, Holli, Chang, Jeen-Soo, Arends, Danielle, Harrell, Lindy, Bartzokis, George, Cummings, Jeffery, Lu, Po H., Toland, Usha, Smith, Charles, Brickhouse, Alise, Trojanowski, John, Van Deerlin, Vivianna, McCarty Wood, Elisabeth, DeKosky, Steven, Sweet, Robert, Weamer, Elise, Chui, Helena, Varpetian, Arousiak, Diaz-Arrastia, Ramon, Rosenberg, Roger, Davis, Barbara, Bird, Thomas, Schellenberg, Gerard D., Raskind, Murray, Rumbaugh, Malia, Nickel, Kate, Goate, Alison, Morris, John, Norton, Joanne, Levitch, Denise, Grant, Betsy, Coats, Mary, Levey, Allen, Rosen, Ami, Anosike, Ezinna
Publicado em 2012