Association of Olfactory Performance With Motor Decline and Age at Onset in People With Parkinson Disease and the LRRK2 G2019S Variant

Autor: Rachel Saunders-Pullman, Roberto Angel Ortega, Cuiling Wang, Deborah Raymond, Sonya Elango, Katherine Leaver, Nikita Urval, Viktoriya Katsnelson, Rachel Gerber, Matthew Swan, Vicki Shanker, Roy N. Alcalay, Anat Mirelman, Michael C. Brumm, Helen Mejia-Santana, Christopher S. Coffey, Kenneth Marek, Laurie J. Ozelius, Nir Giladi, Karen S. Marder, Susan B. Bressman

Publikováno v: Neurology. 99:e814-e823

Background and ObjectivesThere is clinical and phenotypic heterogeneity in LRRK2 G2019S Parkinson disease (PD), including loss of smell. Olfactory scores have defined subgroups of LRRK2 PD at baseline. We now extend this work longitudinally to better

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eabf9b93aadd3613ab212e9e16e08d51
https://doi.org/10.1212/wnl.0000000000200737

Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease

Autor: Paul Cannon, Laurie J. Ozelius, James E. Tomkins, Nir Giladi, Owen A. Ross, Emil K. Gustavsson, Avi Orr Urtreger, Ali Samii, Tae-Hwi Schwantes-An, Sayantan Das, Haydeh Payami, Claudia Schulte, Eduardo Tolosa, Timothy Lynch, Eden R. Martin, Matthew J. Farrer, Brian K. Fiske, Pierre Fontanillas, Eric Molho, Ryan J. Uitti, Babak Alipanahi, Dolores Vilas, Jan O. Aasly, Dongbing Lai, Richard H. Myers, William K. Scott, Gary W. Beecham, Jordan Follett, Thomas Gasser, John Q. Trojanowski, Zbigniew K. Wszolek, Jeanne C. Latourelle, Caroline M. Tanner, Joanne Trinh, Alexis Brice, Lorraine N. Clark, Roy N. Alcalay, Karen Marder, Susan Bressman, Deborah Raymond, Tatiana Foroud, Connie Marras, Kathrin Brockman, Birgitt Schüle, Cory Y. McLean, Rachel Saunders-Pullman, Ekaterina Rogaeva, Daniela Berg, Cyrus P. Zabetian, Stefano Goldwurm, Karen Nuytemans, Mark R. Cookson, Helen Mejia-Santana, Jeffery M. Vance, Christine Klein, Naomi P. Visanji, J. William Langston, Michael P. Rogers, Anthony E. Lang, Anat Mirelman, Vivianna M. Van Deerlin

Publikováno v: Annals of neurology, vol 90, iss 1
Annals of neurology 90(1), 76-88 (2021). doi:10.1002/ana.26094
Annals of Neurology

Objective The aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease. Methods We performed the first genome-wide association study of penetrance and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d85f9b8fa247e3ffc59892687c3c71a
https://escholarship.org/uc/item/09b4c8xm

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

Autor: Nir Giladi, Helen Mejia-Santana, Ekaterina Rogaeva, Connie Marras, Anthony E. Lang, Cyrus P. Zabetian, Stefano Goldwurm, Jeffery M. Vance, Birgitt Schüle, Cory Y. McLean, William K. Scott, Caroline M. Tanner, Karen Nuytemans, Ali Samii, Claudia Schulte, Emil K. Gustavsson, Eden R. Martin, Vivianna M. Van Deerlin, Dolores Vilas, Jan O. Aasly, Brian K. Fiske, Naomi P. Visanji, Pierre Fontanillas, Deborah Raymond, Alexis Brice, Dongbing Lai, John Q. Trojanowski, Zbigniew K. Wszolek, Thomas Gasser, Jeanne C. Latourelle, Joanne Trinh, Rachel Saunders-Pullman, Anat Mirelman, Christine Klein, Karen Marder, Mark R. Cookson, Roy N. Alcalay, Susan Bressman, Haydeh Payami, Tae-Hwi Schwantes-An, James E. Tomkins, Avi Orr Urtreger, Matthew J. Farrer, Tatiana Foroud, Daniela Berg, Eduardo Tolosa, Ryan J. Uitti, Babak Alipanahi, Timothy Lynch, Kathrin Brockman, Gary W. Beecham, Paul Cannon, Laurie J. Ozelius, Richard H. Myers, Lorraine N. Clark, Sayantan Das, Eric Molho, J. William Langston, Owen A. Ross, Michael P. Rogers

Objective: The aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease. Methods: We performed the first genome-wide association study of penetrance an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e74537c5ca6b94faf72799c40152b956
https://doi.org/10.1101/2020.12.14.20224378

Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

Autor: Tanya Simuni, Liz Uribe, Hyunkeun Ryan Cho, Chelsea Caspell-Garcia, Christopher S Coffey, Andrew Siderowf, John Q Trojanowski, Leslie M Shaw, John Seibyl, Andrew Singleton, Arthur W Toga, Doug Galasko, Tatiana Foroud, Duygu Tosun, Kathleen Poston, Daniel Weintraub, Brit Mollenhauer, Caroline M Tanner, Karl Kieburtz, Lana M Chahine, Alyssa Reimer, Samantha J Hutten, Susan Bressman, Kenneth Marek, Vanessa Arnedo, Adrienne Clark, Mark Fraiser, Catherine Kopil, Sohini Chowdhury, Todd Sherer, Nichole Daegele, Cynthia Casaceli, Ray Dorsey, Renee Wilson, Sugi Mahes, Christina Salerno, Karen Crawford, Paola Casalin, Giulia Malferrari, Mali Gani Weisz, Avi Orr-Urtreger, Thomas Montine, Chris Baglieri, Amanda Christini, David Russell, Nabila Dahodwala, Nir Giladi, Stewart Factor, Penelope Hogarth, David Standaert, Robert Hauser, Joseph Jankovic, Marie Saint-Hilaire, Irene Richard, David Shprecher, Hubert Fernandez, Katrina Brockmann, Liana Rosenthal, Paolo Barone, Alberto Espay, Dominic Rowe, Karen Marder, Anthony Santiago, Shu-Ching Hu, Stuart Isaacson, Jean-Christophe Corvol, Javiar Ruiz Martinez, Eduardo Tolosa, Yen Tai, Marios Politis, Debra Smejdir, Linda Rees, Karen Williams, Farah Kausar, Whitney Richardson, Diana Willeke, Shawnees Peacock, Barbara Sommerfeld, Alison Freed, Katrina Wakeman, Courtney Blair, Stephanie Guthrie, Leigh Harrell, Christine Hunter, Cathi-Ann Thomas, Raymond James, Grace Zimmerman, Victoria Brown, Jennifer Mule, Ella Hilt, Kori Ribb, Susan Ainscough, Misty Wethington, Madelaine Ranola, Helen Mejia Santana, Juliana Moreno, Deborah Raymond, Krista Speketer, Lisbeth Carvajal, Stephanie Carvalo, Ioana Croitoru, Alicia Garrido, Laura Marie Payne, Veena Viswanth, Lawrence Severt, Maurizio Facheris, Holly Soares, Mark A. Mintun, Jesse Cedarbaum, Peggy Taylor, Kevin Biglan, Emily Vandenbroucke, Zulfiqar Haider Sheikh, Baris Bingol, Tanya Fischer, Pablo Sardi, Remi Forrat, Alastair Reith, Jan Egebjerg, Gabrielle Ahlberg Hillert, Barbara Saba, Chris Min, Robert Umek, Joe Mather, Susan De Santi, Anke Post, Frank Boess, Kirsten Taylor, Igor Grachev, Andreja Avbersek, Pierandrea Muglia, Kaplana Merchant, Johannes Tauscher

Publikováno v: The Lancet. Neurology, vol 19, iss 1
Lancet Neurol

BackgroundThe Parkinson's Progression Markers Initiative (PPMI) is an ongoing observational, longitudinal cohort study of participants with Parkinson's disease, healthy controls, and carriers of the most common Parkinson's disease-related genetic mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9491293206b421c5d364e092f50f0b5a
https://escholarship.org/uc/item/6mc189cw

Estimation of genetic risk function with covariates in the presence of missing genotypes

Autor: Susan B. Bressman, Helen Mejia-Santana, Annie J. Lee, Nir Giladi, Karen Marder, Roy N. Alcalay, Avi Orr-Urtreger, Yuanjia Wang

Publikováno v: Statistics in Medicine. 36:3533-3546

In genetic epidemiological studies, family history data are collected on relatives of study participants and used to estimate the age-specific risk of disease for individuals who carry a causal mutation. However, a family member's genotype data may n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7f6190409362a5bc1821e8826e0db21d
https://doi.org/10.1002/sim.7376