Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Abigail Pfaff"'
Publikováno v:
Therapeutic Delivery. 13:449-462
Wolfram syndrome is a rare multisystem autosomal recessive neurodegenerative disorder that affects the brain and central nervous system. Currently, there is no cure or treatment for Wolfram syndrome. Therefore, new techniques are needed to target the
Autor:
Alexander Fröhlich, Abigail Pfaff, Ben Middlehurst, Lauren Hughes, Vivien Bubb, John Quinn, Sulev Koks
SINE-VNTR-Alu (SVA) retrotransposons are transposable elements which represent a source of genetic variation. We previously demonstrated that the presence/absence of a human-specific SVA, termed SVA_67, correlated with the progression of Parkinson´s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb7c3cfb93babfb10920b5b041f81d96
https://doi.org/10.21203/rs.3.rs-2667832/v1
https://doi.org/10.21203/rs.3.rs-2667832/v1
Autor:
Megan Bakeberg, Madison Hoes, Anastazja Gorecki, Frances Theunissen, Abigail Pfaff, Jade Kenna, Kai Plunkett, Sulev Kõks, Patrick Akkari, Frank Mastaglia, Ryan Anderton
Abnormal mitochondrial function is a key process in the pathogenesis of Parkinson’s disease (PD). The central pore-forming protein TOM40 of the mitochondria is encoded by the translocase of outer mitochondrial membrane 40 homologue gene (TOMM40). T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc92ce4ab5090ad861516e126cd682a5
https://doi.org/10.21203/rs.3.rs-119345/v1
https://doi.org/10.21203/rs.3.rs-119345/v1
Autor:
Julia, Pytte, Loren L, Flynn, Ryan S, Anderton, Frank L, Mastaglia, Frances, Theunissen, Ian, James, Abigail, Pfaff, Sulev, Koks, Ann M, Saunders, Richard, Bedlack, Daniel K, Burns, Michael W, Lutz, Nailah, Siddique, Teepu, Siddique, Allen D, Roses, P Anthony, Akkari
Publikováno v:
Neurology: Genetics
Objective To test the hypothesis that rs573116164 will have disease-modifying effects in patients with superoxide dismutase 1 (SOD1) familial amyotrophic lateral sclerosis (fALS), we characterized rs573116164 within a cohort of 190 patients with fALS
Autor:
Kin Y. Mok, Tatsushi Toda, Chunyu Li, Anh Tuan Nguyen, Bei-Sha Tang, Huong Thi Thanh Nguyen, Sulev Kõks, Wing Chi Fong, Yih-Ru Wu, Nor Azian Abdul Murad, Huifeng Shang, Wael Mohamed, Wataru Satake, Germaine Hiu Fai Chan, John Hardy, Amy Ky Fu, Chin-Hsein Lin, Phillip Chan, Lewis Singleton, Xiaopu Zhou, Yuewen Chen, Mong-Hsun Tsai, Kotaro Ogaki, Thi Thanh Huyen Vu, Shahrul Azmin, Nobutaka Hattori, Kin Y Mok, Tao Ye, Renpei Sengoku, Ji-Feng Guo, Seong-Min Choi, Ruey-Meei Wu, Siti Aishah Sulaiman, Manabu Funayama, Cornelis Blauwendraat, Hidetomo Murakami, Yu Chen, Norlinah Mohamed Ibrahim, Yun Joong Kim, Yu-An Su, Hsiu-Chuan Wu, Nancy Y Ip, Fanny Cf Ip, Andrew B. Singleton, Mike A. Nalls, Han Cao, Abigail Pfaff, Nelson Yuk-Fai Cheung, Kenya Nishioka, Tomotaka Shiraishi, Seok Jong Chung, Siti Hajar Md Desa
Publikováno v:
The Lancet Neurology. 20:982