Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Bradford Casey"'
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:
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
Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)
Autor:
Clodagh Towns, Madeleine Richer, Simona Jasaityte, Eleanor J. Stafford, Julie Joubert, Tarek Antar, Alejandro Martinez-Carrasco, Mary B. Makarious, Bradford Casey, Dan Vitale, Kristin Levine, Hampton Leonard, Caroline B. Pantazis, Laurel A. Screven, Dena G. Hernandez, Claire E. Wegel, Justin Solle, Mike A. Nalls, Cornelis Blauwendraat, Andrew B. Singleton, Manuela M. X. Tan, Hirotaka Iwaki, Huw R. Morris, the Global Parkinson’s Genetics Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-6 (2023)
Abstract The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic ar
Externí odkaz:
https://doaj.org/article/1f9f2390f82e440aa0932ccba0225cfc
Autor:
Marta Soto, Manel Fernández, Paloma Bravo, Sara Lahoz, Alicia Garrido, Antonio Sánchez-Rodríguez, María Rivera-Sánchez, María Sierra, Paula Melón, Ana Roig-García, Anna Naito, Bradford Casey, Jordi Camps, Eduardo Tolosa, María-José Martí, Jon Infante, Mario Ezquerra, Rubén Fernández-Santiago
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-12 (2023)
Abstract The LRRK2 G2019S pathogenic mutation causes LRRK2-associated Parkinson’s disease (L2PD) with incomplete penetrance. LRRK2 non-manifesting carriers (L2NMC) are at PD high risk but predicting pheno-conversion is challenging given the lack of
Externí odkaz:
https://doaj.org/article/fc4ea8c201b04435b88fd67d9335edac
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:
Mahdiar Sadeghi, Bradford Casey, David Vismer, Sonja W. Scholz, Mary B. Makarious, Andrew B. Singleton, Mike A. Nalls, J. Raphael Gibbs, Shameek Biswas, Barry Landin, Clemens R. Scherzer, Hampton L. Leonard, Dena G. Hernandez, Matt Bookman, Daniel Vitale, Leonie Misquitta, Dinesh Kumar, Hirotaka Iwaki, Xianjun Dong, Cornelis Blauwendraat, Clifton L. Dalgard, Yeajin Song
Publikováno v:
Movement Disorders
Background Whole‐genome sequencing data are available from several large studies across a variety of diseases and traits. However, massive storage and computation resources are required to use these data, and to achieve sufficient power for discove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a13322e78febd0c9e956f76c1be162c4
https://doi.org/10.1002/mds.28549
https://doi.org/10.1002/mds.28549
Publikováno v:
Behavior Analysis in Practice (Springer Science & Business Media B.V.); Sep2022, Vol. 15 Issue 3, p643-658, 16p
Autor:
Arthur W. Toga, Alyssa Reimer, Parkinson Progression Marker Initiative, Elizabeth Hutchins, J. Raphael Gibbs, Shawn Levy, Samantha J. Hutten, Karen Crawford, Nripesh Prasad, Bradford Casey, Kendall Van Keuren-Jensen, Eric Alsop, Madison Robinson, Mark R. Cookson, Ivo Violich, David Craig, Timothy G. Whitsett
The Michael J. Fox Foundation’s Parkinson’s Progression Markers Initiative (PPMI) is an observational study to comprehensively evaluate Parkinson’s disease (PD) patients using imaging, biologic sampling, clinical and behavioural assessments to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a19d09df3926d692638e24111c2f418
https://doi.org/10.1101/2021.01.05.21249278
https://doi.org/10.1101/2021.01.05.21249278
Autor:
Andrew B. Singleton, Xianjun Dong, David Vismer, Matt Bookman, Leonie Misquitta, Cornelis Blauwendraat, Mahdiar Sadeghi, Yeajin Song, Sonja W. Scholz, Barry Landin, Hirotaka Iwaki, J. Raphael Gibbs, Clifton L. Dalgard, Mary B. Makarious, Mike A. Nalls, Hampton L. Leonard, Dinesh Kumar, Shameek Biswas, Daniel Vitale, Clemens R. Scherzer, Bradford Casey, Dena G. Hernandez
BackgroundWhole-genome sequencing (WGS) data is available from several large studies across a variety of diseases and traits. However, massive storage and computation resources are required to use these data, and, to achieve the sufficient power for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f18892d8ffbcee4a0130a857c499cad3
https://doi.org/10.1101/2020.11.19.20235192
https://doi.org/10.1101/2020.11.19.20235192
Autor:
Bradford Casey, Pedro Guimarães, Brit Mollenhauer, Christina Backes, David Craig, Tobias Fehlmann, Andreas Keller, Ivo Violich, Eric Alsop, Nadja Grammes, Kendall Van Keuren-Jensen, Fabian Kern, Kathleen L. Poston, Douglas Galasko, Elizabeth Hutchins, Lars Geffers, Eckart Meese, Balling R, Mustafa Kahraman, Rejko Krüger, Tony Wyss-Coray
Coding and non-coding RNAs have diagnostic and prognostic importance in Parkinson’s diseases (PD). We studied circulating small non-coding RNAs (sncRNAs) in 7, 003 samples from two longitudinal PD cohorts (Parkinson’s Progression Marker Initiativ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9946bd16d074f2c14883f709d158882
https://doi.org/10.1101/2020.06.01.127092
https://doi.org/10.1101/2020.06.01.127092