Search Results - "Huttenlocher, Johanna"

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline by Jonsson, Thorlakur, Atwal, Jasvinder K., Steinberg, Stacy, Snaedal, Jon, Jonsson, Palmi V., Bjornsson, Sigurbjorn, Stefansson, Hreinn, Sulem, Patrick, Gudbjartsson, Daniel, Maloney, Janice, Hoyte, Kwame, Gustafson, Amy, Liu, Yichin, Lu, Yanmei, Bhangale, Tushar, Graham, Robert R., Huttenlocher, Johanna, Bjornsdottir, Gyda, Andreassen, Ole A., Jönsson, Erik G., Palotie, Aarno, Behrens, Timothy W., Magnusson, Olafur T., Kong, Augustine, Thorsteinsdottir, Unnur, Watts, Ryan J., Stefansson, Kari

“…A coding mutation in APP , the gene that encodes the amyloid-β precursor protein, is found to protect against Alzheimer’s disease and cognitive decline in the…”
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Variant of TREM2 Associated with the Risk of Alzheimer's Disease by Jonsson, Thorlakur, Stefansson, Hreinn, Steinberg, Stacy, Jonsdottir, Ingileif, Jonsson, Palmi V, Snaedal, Jon, Bjornsson, Sigurbjorn, Huttenlocher, Johanna, Levey, Allan I, Lah, James J, Rujescu, Dan, Hampel, Harald, Giegling, Ina, Andreassen, Ole A, Engedal, Knut, Ulstein, Ingun, Djurovic, Srdjan, Ibrahim-Verbaas, Carla, Hofman, Albert, Ikram, M. Arfan, van Duijn, Cornelia M, Thorsteinsdottir, Unnur, Kong, Augustine, Stefansson, Kari

“…This study shows that a variant of TREM2 , which encodes a protein that suppresses inflammation, causes susceptibility to Alzheimer's disease. Although the…”
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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease by Nalls, Mike A, Pankratz, Nathan, Lill, Christina M, Do, Chuong B, Hernandez, Dena G, Saad, Mohamad, DeStefano, Anita L, Kara, Eleanna, Bras, Jose, Sharma, Manu, Schulte, Claudia, Keller, Margaux F, Arepalli, Sampath, Letson, Christopher, Edsall, Connor, Stefansson, Hreinn, Liu, Xinmin, Pliner, Hannah, Lee, Joseph H, Cheng, Rong, Ikram, M Arfan, Ioannidis, John P A, Hadjigeorgiou, Georgios M, Bis, Joshua C, Martinez, Maria, Perlmutter, Joel S, Goate, Alison, Marder, Karen, Fiske, Brian, Sutherland, Margaret, Xiromerisiou, Georgia, Myers, Richard H, Clark, Lorraine N, Stefansson, Kari, Hardy, John A, Heutink, Peter, Chen, Honglei, Wood, Nicholas W, Houlden, Henry, Payami, Haydeh, Brice, Alexis, Scott, William K, Gasser, Thomas, Bertram, Lars, Eriksson, Nicholas, Foroud, Tatiana, Singleton, Andrew B

“…Andrew Singleton and colleagues report a large-scale meta-analysis of genome-wide association data in Parkinson's disease using over 13,000 cases and 95,000…”
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy by Lesage, Suzanne, Deramecourt, Vincent, Jacoupy, Maxime, Hassoun, Sidi Mohamed, Pujol, Claire, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Corvol, Jean-Christophe, Krack, Paul, Hernandez, Dena G., Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Corti, Olga, Brice, Alexis, Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Vérin, Marc, Viallet, François, Brice, Alexis, Majounie, Elisa, Corvol, Jean Christophe, Ben-Shlomo, Yoav, Berg, Daniela, Bhatia, Kailash, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Burn, David J., Chen, Honglei, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, van Dijk, Karin D., Dong, Jing, Escott-Price, Valentina, Evans, Jonathan R., Gray, Emma, Guerreiro, Rita, van Hilten, Jacobus J., Hollenbeck, Albert, Holmans, Peter, Hu, Michèle, Hudson, Gavin, Hunt, Sarah E., Kilarski, Laura L., Jansen, Iris E., Langford, Cordelia, Lees, Andrew, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, O’Sullivan, Sean S., Pearson, Justin, Ravina, Bernard, Rivadeneira, Fernando, Ryten, Mina, Schapira, Anthony, Sharma, Manu, Sheerin, Una-Marie, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Kári, Strange, Amy, Talbot, Kevin, Trabzuni, Daniah, Uitterlinden, André G., van de Warrenburg, Bart, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Hardy, John, Wood, Nicholas W.

“…Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive…”
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Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease by Huttenlocher, Johanna, Stefansson, Hreinn, Steinberg, Stacy, Helgadottir, Hafdis T, Sveinbjörnsdóttir, Sigurlaug, Riess, Olaf, Bauer, Peter, Stefansson, Kari

“…Together with point mutations, homozygous deletions or duplications in PARK2 are responsible for the majority of autosomal recessive juvenile Parkinsonism. It…”
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Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease by Beilina, Alexandria, Rudenko, Iakov N., Kaganovich, Alice, Civiero, Laura, Chau, Hien, Kalia, Suneil K., Kalia, Lorraine V., Lobbestael, Evy, Chia, Ruth, Ndukwe, Kelechi, Ding, Jinhui, Nalls, Mike A., Olszewski, Maciej, Hauser, David N., Kumaran, Ravindran, Lozano, Andres M., Baekelandt, Veerle, Greene, Lois E., Taymans, Jean-Marc, Greggio, Elisa, Cookson, Mark R.

“…Mutations in leucine-rich repeat kinase 2 (LRRK2) cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for sporadic PD…”
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Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies by Nalls, Michael A, Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, J, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Stefánsson, Kári, Martinez, Maria, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Wood, Nicholas W

“…Summary Background Genome-wide association studies (GWAS) for Parkinson's disease have linked two loci ( MAPT and SNCA ) to risk of Parkinson's disease. We…”
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Truncating mutations in RBM12 are associated with psychosis by Steinberg, Stacy, Gudmundsdottir, Steinunn, Sveinbjornsson, Gardar, Suvisaari, Jaana, Paunio, Tiina, Torniainen-Holm, Minna, Frigge, Michael L, Jonsdottir, Gudrun A, Huttenlocher, Johanna, Arnarsdottir, Sunna, Ingimarsson, Oddur, Haraldsson, Magnus, Tyrfingsson, Thorarinn, Thorgeirsson, Thorgeir E, Kong, Augustine, Norddahl, Gudmundur L, Gudbjartsson, Daniel F, Sigurdsson, Engilbert, Stefansson, Hreinn, Stefansson, Kari

“…Kari Stefansson and colleagues identify a nonsense mutation in RBM12 segregating with psychosis in an extended Icelandic pedigree and an independent frameshift…”
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A two-stage meta-analysis identifies several new loci for Parkinson's disease

“…A previous genome-wide association (GWA) meta-analysis of 12,386 PD cases and 21,026 controls conducted by the International Parkinson's Disease Genomics…”
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Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion by Obayashi, Masato, Stevanin, Giovanni, Synofzik, Matthis, Monin, Marie-Lorraine, Duyckaerts, Charles, Sato, Nozomu, Streichenberger, Nathalie, Vighetto, Alain, Desestret, Virginie, Tesson, Christelle, Wichmann, H-Erich, Illig, Thomas, Huttenlocher, Johanna, Kita, Yasushi, Izumi, Yuishin, Mizusawa, Hidehiro, Schöls, Ludger, Klopstock, Thomas, Brice, Alexis, Ishikawa, Kinya, Dürr, Alexandra

“…ObjectiveSpinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion…”
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Common variants at VRK2 and TCF4 conferring risk of schizophrenia by Steinberg, Stacy, de Jong, Simone, Andreassen, Ole A., Werge, Thomas, Børglum, Anders D., Mors, Ole, Mortensen, Preben B., Gustafsson, Omar, Costas, Javier, Pietiläinen, Olli P. H., Demontis, Ditte, Papiol, Sergi, Huttenlocher, Johanna, Mattheisen, Manuel, Breuer, René, Vassos, Evangelos, Giegling, Ina, Fraser, Gillian, Walker, Nicholas, Tuulio-Henriksson, Annamari, Suvisaari, Jaana, Lönnqvist, Jouko, Paunio, Tiina, Agartz, Ingrid, Melle, Ingrid, Djurovic, Srdjan, Strengman, Eric, Jürgens, Gesche, Glenthøj, Birte, Terenius, Lars, Hougaard, David M., Ørntoft, Torben, Wiuf, Carsten, Didriksen, Michael, Hollegaard, Mads V., Nordentoft, Merete, van Winkel, Ruud, Kenis, Gunter, Abramova, Lilia, Kaleda, Vasily, Arrojo, Manuel, Sanjuán, Julio, Arango, Celso, Sperling, Swetlana, Rossner, Moritz, Ribolsi, Michele, Magni, Valentina, Siracusano, Alberto, Christiansen, Claus, Kiemeney, Lambertus A., Veldink, Jan, van den Berg, Leonard, Ingason, Andres, Muglia, Pierandrea, Murray, Robin, Nöthen, Markus M., Sigurdsson, Engilbert, Petursson, Hannes, Thorsteinsdottir, Unnur, Kong, Augustine, Rubino, I. Alex, De Hert, Marc, Réthelyi, János M., Bitter, István, Jönsson, Erik G., Golimbet, Vera, Carracedo, Angel, Ehrenreich, Hannelore, Craddock, Nick, Owen, Michael J., O'Donovan, Michael C., Ruggeri, Mirella, Tosato, Sarah, Peltonen, Leena, Ophoff, Roel A., Collier, David A., St Clair, David, Rietschel, Marcella, Cichon, Sven, Stefansson, Hreinn, Rujescu, Dan, Stefansson, Kari

“…Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we…”
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A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease by Holmans, Peter, Moskvina, Valentina, Jones, Lesley, Sharma, Manu, Vedernikov, Alexey, Buchel, Finja, Saad, Mohamad, Sadd, Mohamad, Bras, Jose M, Bettella, Francesco, Nicolaou, Nayia, Simón-Sánchez, Javier, Mittag, Florian, Gibbs, J Raphael, Schulte, Claudia, Durr, Alexandra, Guerreiro, Rita, Hernandez, Dena, Brice, Alexis, Stefánsson, Hreinn, Majamaa, Kari, Gasser, Thomas, Heutink, Peter, Wood, Nicholas W, Martinez, Maria, Singleton, Andrew B, Nalls, Michael A, Hardy, John, Morris, Huw R, Williams, Nigel M

“…Parkinson's disease (PD) is the second most common neurodegenerative disease affecting 1-2% in people >60 and 3-4% in people >80. Genome-wide association (GWA)…”
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EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts by Huttenlocher, Johanna, Krüger, Rejko, Capetian, Philipp, Lohmann, Katja, Brockmann, Kathrin, Csoti, Ilona, Klein, Christine, Berg, Daniela, Gasser, Thomas, Bonin, Michael, Riess, Olaf, Bauer, Peter

“…Missense mutations in the eukaryotic translation initiation factor 4-γ 1 (EIF4G1) gene have previously been implicated in familial Parkinson's disease (PD). A…”
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Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease by Robak, Laurie A, Jansen, Iris E, van Rooij, Jeroen, Uitterlinden, André G, Kraaij, Robert, Jankovic, Joseph, Heutink, Peter, Shulman, Joshua M, Nalls, Mike A, Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Majounie, Elisa, Charlesworth, Gavin, Lungu, Codrin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Mark Cooper, J, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Raphael Gibbs, J, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Escott-Price, Valentina, Mudanohwo, Ese, O’Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf

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Common variant at 16p11.2 conferring risk of psychosis by Steinberg, S, de Jong, S, Pietiläinen, O P H, Lin, K, Papiol, S, Huttenlocher, J, Sigurdsson, E, Giegling, I, Breuer, R, Fraser, G, Walker, N, Melle, I, Djurovic, S, Tuulio-Henriksson, A, Suvisaari, J, Lönnqvist, J, Paunio, T, Olsen, L, Ingason, A, Pirinen, M, Strengman, E, Hougaard, D M, Ørntoft, T, Didriksen, M, Abramova, L, Kaleda, V, Arrojo, M, Arango, C, Etain, B, Bellivier, F, Méary, A, Schürhoff, F, Szoke, A, Ribolsi, M, Magni, V, Siracusano, A, Sperling, S, Rossner, M, Christiansen, C, Kiemeney, L A, Franke, B, Veldink, J, Curran, S, Bolton, P, Poot, M, Rehnstrom, K, Freitag, C M, Magnusson, P, Saemundsen, E, Martsenkovsky, I, Bikshaieva, I, Martsenkovska, I, Vashchenko, O, Raleva, M, Paketchieva, K, Pejovic Milovancevic, M, Naneishvili, N, Mikeladze, N, Vincent, J B, Farmer, A, Mitchell, P B, Wright, A, Schofield, P R, Fullerton, J M, Montgomery, G W, Rubino, I A, Kenis, G, Bitter, I, Terenius, L, Jönsson, E G, Bakker, S, van Os, J, Jablensky, A, Powell, J, Murray, R, Corvin, A, Gill, M, Morris, D, O'Neill, F A, Kendler, K, Riley, B, Craddock, N, O'Donovan, M C, Thorsteinsdottir, U, Ehrenreich, H, Carracedo, A, Golimbet, V, Børglum, A D, Mortensen, P B, Werge, T, Ophoff, R A, Rietschel, M, Cichon, S, Ruggeri, M, Tosato, S, Palotie, A, St Clair, D, Rujescu, D, Collier, D A, Stefansson, K

“…Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association…”
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Atypical juvenile parkinsonism in a consanguineous SPG15 family by Schicks, Julia, Synofzik, Matthis, Pétursson, Hjörvar, Huttenlocher, Johanna, Reimold, Matthias, Schöls, Ludger, Bauer, Peter

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No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs by Geissler, Julia M., Romanos, Marcel, Gerlach, Manfred, Berg, Daniela, Schulte, Claudia

“…Attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease (PD) involve pathological changes in brain structures such as the basal ganglia, which…”
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Amutation in APP protects against Alzheimer's disease and age-related cognitive decline by Jonsson, Thorlakur, Atwal, Jasvinder K, Steinberg, Stacy, Snaedal, Jon, Jonsson, Palmi V, Bjornsson, Sigurbjorn, Stefansson, Hreinn, Sulem, Patrick, Gudbjartsson, Daniel, Maloney, Janice, Hoyte, Kwame, Gustafson, Amy, Liu, Yichin, Lu, Yanmei, Bhangale, Tushar, Graham, Robert R, Huttenlocher, Johanna, Bjornsdottir, Gyda, Andreassen, Ole A, Jönsson, Erik G, Palotie, Aarno, Behrens, Timothy W, Magnusson, Olafur T, Kong, Augustine, Thorsteinsdottir, Unnur, Watts, Ryan J, Stefansson, Kari

“…The prevalence of dementia in the Western world in people over the age of 60 has been estimated to be greater than 5%, about two-thirds of which are due to…”
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Atypical juvenile parkinsonism in a consanguineous SPG15 family by Schicks, Julia, Synofzik, Matthis, Pétursson, Hjörvar, Huttenlocher, Johanna, Reimold, Matthias, Schöls, Ludger, Bauer, Peter

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