ATXN2 intermediate expansions in amyotrophic lateral sclerosis
Glass, Jonathan D, Dewan, Ramita, Ding, Jinhui, Gibbs, J Raphael, Dalgard, Clifton, Keagle, Pamela J, Shankaracharya, García-Redondo, Alberto, Traynor, Bryan J, Chia, Ruth, Landers, John E
Published in Brain (London, England : 1878) (27.08.2022)
Published in Brain (London, England : 1878) (27.08.2022)
Get full text
Journal Article
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
Johnson, Janel O, Glynn, Shannon M, Gibbs, J Raphael, Nalls, Mike A, Sabatelli, Mario, Restagno, Gabriella, Drory, Vivian E, Chiò, Adriano, Rogaeva, Ekaterina, Traynor, Bryan J
Published in Brain (London, England : 1878) (01.12.2014)
Published in Brain (London, England : 1878) (01.12.2014)
Get full text
Journal Article
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
Gibbs, J Raphael, van der Brug, Marcel P, Hernandez, Dena G, Traynor, Bryan J, Nalls, Michael A, Lai, Shiao-Lin, Arepalli, Sampath, Dillman, Allissa, Rafferty, Ian P, Troncoso, Juan, Johnson, Robert, Zielke, H Ronald, Ferrucci, Luigi, Longo, Dan L, Cookson, Mark R, Singleton, Andrew B
Published in PLoS genetics (13.05.2010)
Published in PLoS genetics (13.05.2010)
Get full text
Journal Article
Distinct DNA methylation changes highly correlated with chronological age in the human brain
HERNANDEZ, Dena G, NALLS, Michael A, SINGLETON, Andrew B, RAPHAEL GIBBS, J, AREPALLI, Sampath, VAN DER BRUG, Marcel, CHONG, Sean, MOORE, Matthew, LONGO, Dan L, COOKSON, Mark R, TRAYNOR, Bryan J
Published in Human molecular genetics (15.03.2011)
Published in Human molecular genetics (15.03.2011)
Get full text
Journal Article
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource
Iwaki, Hirotaka, Leonard, Hampton L., Makarious, Mary B., Bookman, Matt, Landin, Barry, Vismer, David, Casey, Bradford, Gibbs, J. Raphael, Hernandez, Dena G., Blauwendraat, Cornelis, Vitale, Daniel, Song, Yeajin, Kumar, Dinesh, Dalgard, Clifton L., Sadeghi, Mahdiar, Dong, Xianjun, Misquitta, Leonie, Scholz, Sonja W., Scherzer, Clemens R., Nalls, Mike A., Biswas, Shameek, Singleton, Andrew B.
Published in Movement disorders (01.08.2021)
Published in Movement disorders (01.08.2021)
Get full text
Journal Article
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
TRABZUNI, Daniah, WRAY, Selina, AREPALLI, Sampath, SINGLETON, Andrew B, COOKSON, Mark R, PITTMAN, Alan M, DE SILVA, Rohan, WEALE, Michael E, HARDY, John, RYTEN, Mina, VANDROVCOVA, Jana, RAMASAMY, Adaikalavan, WALKER, Robert, SMITH, Colin, LUK, Connie, RAPHAEL GIBBS, J, DILLMAN, Allissa, HERNANDEZ, Dena G
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
Get full text
Journal Article
Genome-wide association study reveals genetic risk underlying Parkinson's disease
Singleton, Andrew B, Gasser, Thomas, Simón-Sánchez, Javier, Schulte, Claudia, Bras, Jose M, Sharma, Manu, Gibbs, J Raphael, Berg, Daniela, Paisan-Ruiz, Coro, Lichtner, Peter, Scholz, Sonja W, Hernandez, Dena G, Krüger, Rejko, Federoff, Monica, Klein, Christine, Goate, Alison, Perlmutter, Joel, Bonin, Michael, Nalls, Michael A, Illig, Thomas, Gieger, Christian, Houlden, Henry, Steffens, Michael, Okun, Michael S, Racette, Brad A, Cookson, Mark R, Foote, Kelly D, Fernandez, Hubert H, Traynor, Bryan J, Schreiber, Stefan, Arepalli, Sampath, Zonozi, Ryan, Gwinn, Katrina, van der Brug, Marcel, Lopez, Grisel, Chanock, Stephen J, Schatzkin, Arthur, Park, Yikyung, Hollenbeck, Albert, Gao, Jianjun, Huang, Xuemei, Wood, Nick W, Lorenz, Delia, Deuschl, Günther, Chen, Honglei, Riess, Olaf, Hardy, John A
Published in Nature genetics (01.12.2009)
Published in Nature genetics (01.12.2009)
Get full text
Journal Article
A comprehensive analysis of SNCA‐related genetic risk in sporadic parkinson disease
Pihlstrøm, Lasse, Blauwendraat, Cornelis, Cappelletti, Chiara, Berge‐Seidl, Victoria, Langmyhr, Margrete, Henriksen, Sandra Pilar, van de Berg, Wilma D. J., Gibbs, J. Raphael, Cookson, Mark R., Singleton, Andrew B., Nalls, Mike A., Toft, Mathias
Published in Annals of neurology (01.07.2018)
Published in Annals of neurology (01.07.2018)
Get full text
Journal Article
The Parkinson's Disease Genome‐Wide Association Study Locus Browser
Grenn, Francis P., Kim, Jonggeol J., Makarious, Mary B., Iwaki, Hirotaka, Illarionova, Anastasia, Brolin, Kajsa, Kluss, Jillian H., Schumacher‐Schuh, Artur F., Leonard, Hampton, Faghri, Faraz, Billingsley, Kimberley, Krohn, Lynne, Hall, Ashley, Diez‐Fairen, Monica, Periñán, Maria Teresa, Foo, Jia Nee, Sandor, Cynthia, Webber, Caleb, Fiske, Brian K., Gibbs, J. Raphael, Nalls, Mike A., Singleton, Andrew B., Bandres‐Ciga, Sara, Reed, Xylena, Blauwendraat, Cornelis
Published in Movement disorders (01.11.2020)
Published in Movement disorders (01.11.2020)
Get full text
Journal Article
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
Laaksovirta, Hannu, MD, Peuralinna, Terhi, MSc, Schymick, Jennifer C, PhD, Scholz, Sonja W, MD, Lai, Shaoi-Lin, MD, Myllykangas, Liisa, MD, Sulkava, Raimo, MD, Jansson, Lilja, Hernandez, Dena G, MSc, Gibbs, J Raphael, BS, Nalls, Michael A, PhD, Heckerman, David, MD, Tienari, Pentti J, MD, Traynor, Bryan J, Dr
Published in Lancet neurology (01.10.2010)
Published in Lancet neurology (01.10.2010)
Get full text
Journal Article
Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease
Daida, Kensuke, Funayama, Manabu, Billingsley, Kimberley J., Malik, Laksh, Miano‐Burkhardt, Abigail, Leonard, Hampton L., Makarious, Mary B., Iwaki, Hirotaka, Ding, Jinhui, Gibbs, J. Raphael, Ishiguro, Mayu, Yoshino, Hiroyo, Ogaki, Kotaro, Oyama, Genko, Nishioka, Kenya, Nonaka, Risa, Akamatsu, Wado, Blauwendraat, Cornelis, Hattori, Nobutaka
Published in Movement disorders (01.12.2023)
Published in Movement disorders (01.12.2023)
Get full text
Journal Article
A survey of genetic human cortical gene expression
Myers, Amanda J, Gibbs, J Raphael, Webster, Jennifer A, Rohrer, Kristen, Zhao, Alice, Marlowe, Lauren, Kaleem, Mona, Leung, Doris, Bryden, Leslie, Nath, Priti, Zismann, Victoria L, Joshipura, Keta, Huentelman, Matthew J, Hu-Lince, Diane, Coon, Keith D, Craig, David W, Pearson, John V, Holmans, Peter, Heward, Christopher B, Reiman, Eric M, Stephan, Dietrich, Hardy, John
Published in Nature genetics (01.12.2007)
Published in Nature genetics (01.12.2007)
Get full text
Journal Article
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
MENCACCI, Niccolò E, ISAIAS, Ioannis U, NOYCE, Alastair J, MOK, Kin Y, OPLADEN, Thomas, KUNSTMANN, Erdmute, HODECKER, Sybille, MÜNCHAU, Alexander, VOLKMANN, Jens, SAMNICK, Samuel, SIDLE, Katie, NANJI, Tina, REICH, Martin M, SWEENEY, Mary G, HOULDEN, Henry, BATLA, Amit, ZECCHINELLI, Anna L, PEZZOLI, Gianni, MAROTTA, Giorgio, LEES, Andrew, ALEGRIA, Paulo, KRACK, Paul, CORMIER-DEQUAIRE, Florence, GANOS, Christos, LESAGE, Suzanne, BRICE, Alexis, HEUTINK, Peter, GASSER, Thomas, LUBBE, Steven J, MORRIS, Huw R, TABA, Pille, KOKS, Sulev, MAJOUNIE, Elisa, GIBBS, J. Raphael, PLAGNOL, Vincent, SINGLETON, Andrew, HARDY, John, KLEBE, Stephan, BHATIA, Kailash P, WOOD, Nicholas W, POLKE, James M, BRAS, Jose, HERSHESON, Joshua, STAMELOU, Maria, PITTMAN, Alan M
Published in Brain (London, England : 1878) (01.09.2014)
Published in Brain (London, England : 1878) (01.09.2014)
Get full text
Journal Article
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
JOHNSON, Janel O, RAPHAEL GIBBS, J, REILLY, Mary M, MUNTONI, Francesco, ABRAMZON, Yevgeniya, HOULDEN, Henry, SINGLETON, Andrew B, MEGARBANE, Andre, ANDONI URTIZBEREA, J, HERNANDEZ, Dena G, REGHAN FOLEY, A, AREPALLI, Sampath, PANDRAUD, Amelie, SIMON-SANCHEZ, Javier, CLAYTON, Peter
Published in Brain (London, England : 1878) (01.09.2012)
Published in Brain (London, England : 1878) (01.09.2012)
Get full text
Journal Article
Genotype, haplotype and copy-number variation in worldwide human populations
Rosenberg, Noah A, Singleton, Andrew B, Jakobsson, Mattias, Scholz, Sonja W, Scheet, Paul, Gibbs, J. Raphael, VanLiere, Jenna M, Fung, Hon-Chung, Szpiech, Zachary A, Degnan, James H, Wang, Kai, Guerreiro, Rita, Bras, Jose M, Schymick, Jennifer C, Hernandez, Dena G, Traynor, Bryan J, Simon-Sanchez, Javier, Matarin, Mar, Britton, Angela, van de Leemput, Joyce, Rafferty, Ian, Bucan, Maja, Cann, Howard M, Hardy, John A
Published in Nature (21.02.2008)
Published in Nature (21.02.2008)
Get full text
Journal Article
A genome-wide association study of myasthenia gravis
Renton, Alan E, Pliner, Hannah A, Provenzano, Carlo, Evoli, Amelia, Ricciardi, Roberta, Nalls, Michael A, Marangi, Giuseppe, Abramzon, Yevgeniya, Arepalli, Sampath, Chong, Sean, Hernandez, Dena G, Johnson, Janel O, Bartoccioni, Emanuela, Scuderi, Flavia, Maestri, Michelangelo, Gibbs, J Raphael, Errichiello, Edoardo, Chiò, Adriano, Restagno, Gabriella, Sabatelli, Mario, Macek, Mark, Scholz, Sonja W, Corse, Andrea, Chaudhry, Vinay, Benatar, Michael, Barohn, Richard J, McVey, April, Pasnoor, Mamatha, Dimachkie, Mazen M, Rowin, Julie, Kissel, John, Freimer, Miriam, Kaminski, Henry J, Sanders, Donald B, Lipscomb, Bernadette, Massey, Janice M, Chopra, Manisha, Howard, Jr, James F, Koopman, Wilma J, Nicolle, Michael W, Pascuzzi, Robert M, Pestronk, Alan, Wulf, Charlie, Florence, Julaine, Blackmore, Derrick, Soloway, Aimee, Siddiqi, Zaeem, Muppidi, Srikanth, Wolfe, Gil, Richman, David, Mezei, Michelle M, Jiwa, Theresa, Oger, Joel, Drachman, Daniel B, Traynor, Bryan J
Published in JAMA neurology (01.04.2015)
Published in JAMA neurology (01.04.2015)
Get more information
Journal Article
Genetic Control of Human Brain Transcript Expression in Alzheimer Disease
Webster, Jennifer A., Gibbs, J. Raphael, Clarke, Jennifer, Ray, Monika, Zhang, Weixiong, Holmans, Peter, Rohrer, Kristen, Zhao, Alice, Marlowe, Lauren, Kaleem, Mona, McCorquodale, Donald S., Cuello, Cindy, Leung, Doris, Bryden, Leslie, Nath, Priti, Zismann, Victoria L., Joshipura, Keta, Huentelman, Matthew J., Hu-Lince, Diane, Coon, Keith D., Craig, David W., Pearson, John V., Heward, Christopher B., Reiman, Eric M., Stephan, Dietrich, Hardy, John, Myers, Amanda J.
Published in American journal of human genetics (01.04.2009)
Published in American journal of human genetics (01.04.2009)
Get full text
Journal Article
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort
Grassano, Maurizio, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Sbaiz, Luca, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Corrado, Lucia, D'Alfonso, Sandra, Mazzini, Letizia, Scholz, Sonja W, Dalgard, Clifton, Ding, Jinhui, Gibbs, Raphael J, Chia, Ruth, Traynor, Bryan J, Chiò, Adriano
Published in Neurology (26.01.2021)
Published in Neurology (26.01.2021)
Get more information
Journal Article
Genome‐Wide Analysis of Structural Variants in Parkinson Disease
Billingsley, Kimberley J., Ding, Jinhui, Jerez, Pilar Alvarez, Illarionova, Anastasia, Levine, Kristin, Grenn, Francis P., Makarious, Mary B., Moore, Anni, Vitale, Daniel, Reed, Xylena, Hernandez, Dena, Torkamani, Ali, Ryten, Mina, Hardy, John, Chia, Ruth, Scholz, Sonja W., Traynor, Bryan J., Dalgard, Clifton L., Ehrlich, Debra J., Tanaka, Toshiko, Ferrucci, Luigi, Beach, Thomas G., Serrano, Geidy E., Quinn, John P., Bubb, Vivien J., Collins, Ryan L, Zhao, Xuefang, Walker, Mark, Pierce‐Hoffman, Emma, Brand, Harrison, Talkowski, Michael E., Casey, Bradford, Cookson, Mark R, Markham, Androo, Nalls, Mike A., Mahmoud, Medhat, Sedlazeck, Fritz J, Blauwendraat, Cornelis, Gibbs, J. Raphael, Singleton, Andrew B.
Published in Annals of neurology (01.05.2023)
Published in Annals of neurology (01.05.2023)
Get full text
Journal Article
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia
Sassi, Celeste, Capozzo, Rosa, Hammer, Monia, Zecca, Chiara, Federoff, Monica, Blauwendraat, Cornelis, Bernstein, Nick, Ding, Jinhui, Gibbs, J. Raphael, Price, Timothy, Singleton, Andrew, Logroscino, Giancarlo
Published in Scientific reports (18.03.2021)
Published in Scientific reports (18.03.2021)
Get full text
Journal Article