Zobrazeno 1 - 10
of 142
pro vyhledávání: '"Raphael Gibbs"'
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Francis P. Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B. Makarious, Jinhui Ding, J. Raphael Gibbs, Anni Moore, Xylena Reed, Mike A. Nalls, Syed Shah, Medhat Mahmoud, Fritz J. Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-8 (2024)
Abstract Parkinson’s disease (PD) is a common neurodegenerative disorder with a significant risk proportion driven by genetics. While much progress has been made, most of the heritability remains unknown. This is in-part because previous genetic st
Externí odkaz:
https://doaj.org/article/ad275f9f7d4642cda67c724c9f061ff7
Autor:
Celeste Sassi, Perry G Ridge, Michael A Nalls, Raphael Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, ARUK Consortium, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Jose Bras, Alison M Goate, Andrew B Singleton, Rita Guerreiro, John Hardy
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0150079 (2016)
The cerebral deposition of Aβ42, a neurotoxic proteolytic derivate of amyloid precursor protein (APP), is a central event in Alzheimer's disease (AD)(Amyloid hypothesis). Given the key role of APP-Aβ metabolism in AD pathogenesis, we selected 29 ge
Externí odkaz:
https://doaj.org/article/ac919710348e4339ab197e881d48d2f5
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B. Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, J. Raphael Gibbs, Androo Markham, Mike A. Nalls, Rupesh K. Kesharwani, Fritz J. Sedlazeck, Bradford Casey, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-4 (2024)
Abstract A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a
Externí odkaz:
https://doaj.org/article/17599c960b3547c8b258745f95626779
Autor:
Ece Bayram, Paolo Reho, Irene Litvan, International LBD Genomics Consortium, Jinhui Ding, J. Raphael Gibbs, Clifton L. Dalgard, Bryan J. Traynor, Sonja W. Scholz, Ruth Chia
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-9 (2024)
Abstract Sex influences the prevalence and symptoms of Lewy body dementia (LBD). However, genome-wide association studies typically focus on autosomal variants and exclude sex-specific risk factors. We addressed this gap by performing an X chromosome
Externí odkaz:
https://doaj.org/article/4b0bdd16236c46ffb7fc3ff2e86da758
Autor:
Megan Duffy, Jinhui Ding, Rebekah Langston, D. Thad Whitaker, J. Raphael Gibbs, Mark R. Cookson
Single nuclear RNA-sequencing was performed on human post-mortem brain tissue from four distinct nuclei that have implications for neurodegenerative diseases, including Alzheimer's and Parkinson’s diseases. Younger, aged 20s to 30s, and middle-aged
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c2bcc7f3ab540584dff0fcf3b704e9
Autor:
William Zhu, Xiaoping Huang, Esther Yoon, Sara Bandres-Ciga, Cornelis Blauwendraat, Kimberly J Billingsley, Joshua H Cade, Beverly P Wu, Victoria H Williams, Alice B Schindler, Janet Brooks, J Raphael Gibbs, Dena G Hernandez, Debra Ehrlich, Andrew B Singleton, Derek P Narendra
Publikováno v:
Brain
PRKN mutations are the most common recessive cause of Parkinson’s disease and are a promising target for gene and cell replacement therapies. Identification of biallelic PRKN patients at the population scale, however, remains a challenge, as roughl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f628ca7e72e3405b2283a238596ac9eb
https://doi.org/10.1093/brain/awab456
https://doi.org/10.1093/brain/awab456
Autor:
Jonathan D Glass, Ramita Dewan, Jinhui Ding, J Raphael Gibbs, Clifton Dalgard, Pamela J Keagle, null Shankaracharya, Alberto García-Redondo, Bryan J Traynor, Ruth Chia, John E Landers
Publikováno v:
Brain
Intermediate CAG (polyQ) expansions in the gene ataxin-2 (ATXN2) are now recognized as a risk factor for amyotrophic lateral sclerosis. The threshold for increased risk is not yet firmly established, with reports ranging from 27 to 31 repeats. We inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c04319da47b6f791d8df87603fd12c
https://doi.org/10.1093/brain/awac167
https://doi.org/10.1093/brain/awac167
Autor:
Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L. Walton, Ryan L. Collins, Kimberley Billingsley, Harrison Brand, Michael Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Alvarez Jerez, Laksh Malik, Ted M. Dawson, Liana S. Rosenthal, Marilyn S. Albert, Olga Pletnikova, Juan C. Troncoso, Mario Masellis, Julia Keith, Sandra E. Black, Luigi Ferrucci, Susan M. Resnick, Toshiko Tanaka, Eric Topol, Ali Torkamani, Pentti Tienari, Tatiana M. Foroud, Bernardino Ghetti, John E. Landers, Mina Ryten, Huw R. Morris, John A. Hardy, Letizia Mazzini, Sandra D'Alfonso, Cristina Moglia, Andrea Calvo, Geidy E. Serrano, Thomas G. Beach, Tanis Ferman, Neill R. Graff-Radford, Bradley F. Boeve, Zbigniew K. Wszolek, Dennis W. Dickson, Adriano Chiò, David A. Bennett, Philip L. De Jager, Owen A. Ross, Clifton L. Dalgard, J. Raphael Gibbs, Bryan J. Traynor, Sonja W. Scholz, Anthony R. Soltis, Coralie Viollet, Gauthaman Sukumar, Camille Alba, Nathaniel Lott, Elisa McGrath Martinez, Meila Tuck, Jatinder Singh, Dagmar Bacikova, Xijun Zhang, Daniel N. Hupalo, Adelani Adeleye, Matthew D. Wilkerson, Harvey B. Pollard, Ziv Gan-Or, Ekaterina Rogaeva, Alexis Brice, Suzanne Lesage, Georgia Xiromerisiou, Antonio Canosa, Adriano Chio, Giancarlo Logroscino, Gabriele Mora, Reijko Krüger, Patrick May, Daniel Alcolea, Jordi Clarimon, Juan Fortea, Isabel Gonzalez-Aramburu, Jon Infante, Carmen Lage, Alberto Lleó, Pau Pastor, Pascual Sanchez-Juan, Francesca Brett, Dag Aarsland, Safa Al-Sarraj, Johannes Attems, Steve Gentleman, Angela K. Hodges, Seth Love, Ian G. McKeith, Christopher M. Morris, Laura Palmer, Stuart Pickering-Brown, Alan J. Thomas, Claire Troakes, Matthew J. Barrett, Lynn M. Bekris, Kelley Faber, Margaret E. Flanagan, Alison Goate, David S. Goldstein, Horacio Kaufmann, Walter A. Kukull, James B. Leverenz, Grisel Lopez, Qinwen Mao, Eliezer Masliah, Edwin Monuki, Kathy L. Newell, Jose-Alberto Palma, Matthew Perkins, Alan E. Renton, Clemens R. Scherzer, Vikram G. Shakkottai, Ellen Sidransky, Nahid Tayebi, Randy Woltjer, Robert H. Baloh, Robert Bowser, James Broach, William Camu, John Cooper-Knock, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, Eva Feldman, Pietro Fratta, Glenn Gerhard, Summer B. Gibson, Jonathan D. Glass, Matthew B. Harms, Terry D. Heiman-Patterson, Lilja Jansson, Janine Kirby, Justin Kwan, Hannu Laaksovirta, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel J.L. MacGowan, Nicholas J. Maragakis, Kevin Mouzat, Liisa Myllykangas, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Erik Pioro, Stefan M. Pulst, John M. Ravits, Wim Robberecht, Jeffrey D. Rothstein, Michael Sendtner, Pamela J. Shaw, Katie C. Sidle, Zachary Simmons, Thor Stein, David J. Stone, Pentti J. Tienari, Miko Valori, Philip Van Damme, Vivianna M. Van Deerlin, Ludo Van Den Bosch, Lorne Zinman
We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8f93fafa36bee59f7bcec7705675b4
https://hdl.handle.net/2318/1919190
https://hdl.handle.net/2318/1919190
Autor:
Nripesh Prasad, J. Raphael Gibbs, Tobias Fehlman, Alyssa Reimer, Kendall Van Keuren-Jensen, Tatiana Foroud, Arthur W. Toga, Samantha J. Hutten, Timothy G. Whitsett, Shawn Levy, Mark Frasier, Ivo Violich, Karen Crawford, Samantha Hutten, Madison Robison, Andreas Keller, Eric Alsop, Fabian Kern, Parkinson Progression Marker Initiative, Elizabeth Hutchins, Mark R. Cookson, David Craig, Seungchan Kim, Bradford Casey
Publikováno v:
Nature Aging. 1:734-747
Changes in the blood-based RNA transcriptome have the potential to inform biomarkers of Parkinson’s disease (PD) progression. Here we sequenced a discovery set of whole-blood RNA species in 4,871 longitudinally collected samples from 1,570 clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8ac73dc842d1ccd3353972b2e2291b1
https://doi.org/10.1038/s43587-021-00088-6
https://doi.org/10.1038/s43587-021-00088-6
Autor:
Rebekah G. Langston, Alexandra Beilina, Xylena Reed, Alice Kaganovich, Andrew B. Singleton, Cornelis Blauwendraat, J. Raphael Gibbs, Mark R. Cookson
Publikováno v:
Sci Transl Med
Studies of multiple neurodegenerative disorders have identified many genetic variants that are associated with risk of disease throughout a lifetime. For example, Parkinson’s disease (PD) risk is attributed in part to both coding mutations in the l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::864508c783f52984465bc6e8cc1f11f4
https://doi.org/10.1126/scitranslmed.abp8869
https://doi.org/10.1126/scitranslmed.abp8869