Zobrazeno 1 - 10
of 858
pro vyhledávání: '"Andrew B Singleton"'
Autor:
Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M. Lange, Anthony H. V. Schapira, Kailash P. Bhatia, Parkinson’s Families Project (PFP) Study Group, Global Parkinson’s Genetics Program (GP2), Andrew B. Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W. Wood, Paul R. Jarman, Huw R. Morris, Raquel Real
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor sympt
Externí odkaz:
https://doaj.org/article/492a58c74a1046dba388813690ffc138
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:
Ellen Appleton, Shervin Khosousi, Michael Ta, Michael Nalls, Andrew B. Singleton, Andrea Sturchio, Ioanna Markaki, Wojciech Paslawski, Hirotaka Iwaki, Per Svenningsson
Publikováno v:
Translational Neurodegeneration, Vol 13, Iss 1, Pp 1-4 (2024)
Externí odkaz:
https://doaj.org/article/2452f35a07f14ef3a8a8f025c9d8bf2d
Autor:
Manuela M. X. Tan, Michael A. Lawton, Miriam I. Pollard, Emmeline Brown, Raquel Real, Alejandro Martinez Carrasco, Samir Bekadar, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Leon Hubbard, Naveed Malek, Katherine A. Grosset, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, Nicholas W. Wood, Caroline H. Williams-Gray, Ole A. Andreassen, Mathias Toft, Alexis Elbaz, Fanny Artaud, Alexis Brice, Jean-Christophe Corvol, Jan Aasly, Matthew J. Farrer, Michael A. Nalls, Andrew B. Singleton, Nigel M. Williams, Yoav Ben-Shlomo, John Hardy, Michele T. M. Hu, Donald G. Grosset, Maryam Shoai, Lasse Pihlstrøm, Huw R. Morris
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-15 (2024)
Abstract There are 90 independent genome-wide significant genetic risk variants for Parkinson’s disease (PD) but currently only five nominated loci for PD progression. The biology of PD progression is likely to be of central importance in defining
Externí odkaz:
https://doaj.org/article/b1dcf9f75c9e4bc4bc4699609e993749
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:
Vanessa Pitz, Mary B. Makarious, Sara Bandres-Ciga, Hirotaka Iwaki, andMe Research Team, Andrew B. Singleton, Mike Nalls, Karl Heilbron, Cornelis Blauwendraat
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-10 (2024)
Abstract Although many rare variants have been reportedly associated with Parkinson’s disease (PD), many have not been replicated or have failed to replicate. Here, we conduct a large-scale replication of rare PD variants. We assessed a total of 27
Externí odkaz:
https://doaj.org/article/00d7126da364460db8cd2857981d1321
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:
Milda Aleknonytė-Resch, Joanne Trinh, Hampton Leonard, Sylvie Delcambre, Elsa Leitão, Dongbing Lai, Semra Smajić, Avi Orr-Urtreger, Avner Thaler, Cornelis Blauwendraat, Arunabh Sharma, Mary B. Makarious, Jonggeol Jeff Kim, Julie Lake, Pegah Rahmati, Sandra Freitag-Wolf, Philip Seibler, Tatiana Foroud, Andrew B. Singleton, The International Parkinson Disease Genomics Consortium, Anne Grünewald, Frank Kaiser, Christine Klein, Michael Krawczak, Astrid Dempfle
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-9 (2023)
Abstract The effects of one genetic factor upon Parkinson’s disease (PD) risk may be modified by other genetic factors. Such gene-gene interaction (G×G) could explain some of the ‘missing heritability’ of PD and the reduced penetrance of known
Externí odkaz:
https://doaj.org/article/eab9e702433b4666b815d44862487080
Autor:
Pilar Alvarez Jerez, Jose Luis Alcantud, Lucia de los Reyes-Ramírez, Anni Moore, Clara Ruz, Francisco Vives Montero, Noela Rodriguez-Losada, Prabhjyot Saini, Ziv Gan-Or, Chelsea X. Alvarado, Mary B. Makarious, Kimberley J. Billingsley, Cornelis Blauwendraat, Alastair J. Noyce, Andrew B. Singleton, Raquel Duran, Sara Bandres-Ciga
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-9 (2023)
Abstract Neurodegeneration with brain iron accumulation (NBIA) represents a group of neurodegenerative disorders characterized by abnormal iron accumulation in the brain. In Parkinson’s Disease (PD), iron accumulation is a cardinal feature of degen
Externí odkaz:
https://doaj.org/article/a74e40ce5b164c6c979708ea36164d99
Autor:
Luke Reilly, Erika Lara, Daniel Ramos, Ziyi Li, Caroline B. Pantazis, Julia Stadler, Marianita Santiana, Jessica Roberts, Faraz Faghri, Ying Hao, Mike A. Nalls, Priyanka Narayan, Yansheng Liu, Andrew B. Singleton, Mark R. Cookson, Michael E. Ward, Yue A. Qi
Publikováno v:
Cell Reports: Methods, Vol 3, Iss 10, Pp 100593- (2023)
Summary: Here, we present a standardized, “off-the-shelf” proteomics pipeline working in a single 96-well plate to achieve deep coverage of cellular proteomes with high throughput and scalability. This integrated pipeline streamlines a fully auto
Externí odkaz:
https://doaj.org/article/70e5f58e885a4fae9da3862e8bf66e4e