Zobrazeno 1 - 10
of 490
pro vyhledávání: '"Matthew J. Farrer"'
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:
Mengfei Bu, Jordan Follett, Isaac Deng, Igor Tatarnikov, Shannon Wall, Dylan Guenther, Melissa Maczis, Genevieve Wimsatt, Austen Milnerwood, Mark S. Moehle, Habibeh Khoshbouei, Matthew J. Farrer
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-12 (2023)
Abstract Dysregulation of dopamine neurotransmission profoundly affects motor, motivation and learning behaviors, and can be observed during the prodromal phase of Parkinson’s disease (PD). However, the mechanism underlying these pathophysiological
Externí odkaz:
https://doaj.org/article/d7d5c549172147a4a35bf5c5e9f93f2c
Autor:
Fumitaka Kawakami, Motoki Imai, Yuki Isaka, Mark R. Cookson, Hiroko Maruyama, Makoto Kubo, Matthew J. Farrer, Makoto Kanzaki, Rei Kawashima, Tatsunori Maekawa, Shun Tamaki, Yoshifumi Kurosaki, Fumiaki Kojima, Kenichi Ohba, Takafumi Ichikawa
Publikováno v:
FEBS Open Bio, Vol 13, Iss 12, Pp 2200-2214 (2023)
Epidemiological studies have shown that abnormalities of glucose metabolism are involved in leucine‐rich repeat kinase 2 (LRRK2)‐associated Parkinson's disease (PD). However, the physiological significance of this association is unclear. In the p
Externí odkaz:
https://doaj.org/article/b45a9cfcdb4646e59fbb5d9ee09970be
Autor:
Dylan T. Guenther, Jordan Follett, Rim Amouri, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer
Publikováno v:
Genes, Vol 15, Iss 7, p 878 (2024)
Leucine-rich repeat kinase 2 (LRRK2) c.6055G>A (p.G2019S) is a frequent cause of Parkinson’s disease (PD), accounting for >30% of Tunisian Arab-Berber patients. LRRK2 is widely expressed in the immune system and its kinase activity confers a surviv
Externí odkaz:
https://doaj.org/article/893d39ccc31d40f39a46677f0ab5e8ad
Autor:
Amica C. Müller-Nedebock, Marieke C. J. Dekker, Matthew J. Farrer, Nobutaka Hattori, Shen-Yang Lim, George D. Mellick, Irena Rektorová, Mohamed Salama, Artur F. S. Schuh, A. Jon Stoessl, Carolyn M. Sue, Ai Huey Tan, Rene L. Vidal, Christine Klein, Soraya Bardien
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-11 (2023)
Abstract The biological basis of the neurodegenerative movement disorder, Parkinson’s disease (PD), is still unclear despite it being ‘discovered’ over 200 years ago in Western Medicine. Based on current PD knowledge, there are widely varying t
Externí odkaz:
https://doaj.org/article/8ef87602d608417f925cb5814711f73b
Autor:
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood. Additionally, the frequency of GBA1 variants varies widel
Externí odkaz:
https://doaj.org/article/66c0687e8cf4413393014cc3043ff3b4
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
ObjectiveThe aim of this study was to systematically review the neuroimmunology literature to determine the average immune cell counts reported by flow cytometry in wild-type (WT) homogenized mouse brains.BackgroundMouse models of gene dysfunction ar
Externí odkaz:
https://doaj.org/article/bd5d9da6d2e747f4b1f7b455329c5d39
Publikováno v:
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-11 (2021)
Abstract The dopamine transporter (DAT) transports extracellular dopamine into the intracellular space contributing to the regulation of dopamine neurotransmission. A reduction of DAT density is implicated in Parkinson’s disease (PD) by neuroimagin
Externí odkaz:
https://doaj.org/article/86d8223a39674efcbce9a1f8c5a35aa6
Autor:
Jerome Robert, Nicholas L. Weilinger, Li-Ping Cao, Stefano Cataldi, Emily B. Button, Sophie Stukas, Emma M. Martin, Philip Seibler, Megan Gilmour, Tara M. Caffrey, Elyn M. Rowe, Jianjia Fan, Brian MacVicar, Matthew J. Farrer, Cheryl L. Wellington
Publikováno v:
Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-18 (2020)
Abstract Introduction The neurovascular unit (NVU) – the interaction between the neurons and the cerebrovasculature – is increasingly important to interrogate through human-based experimental models. Although advanced models of cerebral capillari
Externí odkaz:
https://doaj.org/article/bf6b04e51e7642eaa8ed05bcd04de018
Autor:
Yun-Fei Bai, Michelle Chiu, Elizabeth S. Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B. Connolly, Ilaria Guella, Matthew J. Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang
Publikováno v:
Molecular Brain, Vol 12, Iss 1, Pp 1-17 (2019)
Abstract We report the identification of a de novo GABRA1 (R214C) variant in a child with epileptic encephalopathy (EE), describe its functional characterization and pathophysiology, and evaluate its potential therapeutic options. The GABRA1 (R214C)
Externí odkaz:
https://doaj.org/article/05079710b492409489c8147725986750