Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sarah E. Freckleton"'
Autor:
Denis C. Bauer, Britt A. Berning, Jennifer A. Fifita, Olivier Piguet, Julie D. Atkin, John B.J. Kwok, Adam K. Walker, Sarah E. Freckleton, Alison L. Hogan, Prachi Mehta, Sandrine Chan Moi Fat, Kelly L. Williams, Emily P. McCann, Shu Yang, Dominic B. Rowe, Garth A. Nicholson, Natalie A. Twine, Glenda M. Halliday, Matthew C. Kiernan, Ian P. Blair, Sharlynn Wu, Katharine Y. Zhang, Cyril J. Jagaraj, John R. Hodges, Jasmin Galper, Lyndal Henden, Natalie Grima
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 91:162-171
ObjectiveSince the first report of CHCHD10 gene mutations in amyotrophiclateral sclerosis (ALS)/frontotemporaldementia (FTD) patients, genetic variation in CHCHD10 has been inconsistently linked to disease. A pathological assessment of the CHCHD10 pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6993c64a687c626f6f430d0166f43c4
https://doi.org/10.1136/jnnp-2019-321790
https://doi.org/10.1136/jnnp-2019-321790
Autor:
Shu Yang, Ian P. Blair, Emily P. McCann, Jasmin Galper, Sharlynn Wu, Sarah E. Freckleton, Fat Scm, Jennifer A. Fifita, Katharine Y. Zhang
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20:135-159
Background: Ongoing disease gene discoveries continue to drive our understanding of the molecular and cellular mechanisms underlying ALS. Causative genes from 60% of ALS families have been identified using modern genetic techniques, but the causal ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45e68228ea2e42f60e07f6df621861ed
https://doi.org/10.1080/21678421.2019.1646991
https://doi.org/10.1080/21678421.2019.1646991
Autor:
Alana De Luca, Nicholas J. Cole, Mark P. Molloy, Shu Yang, Sarah E. Freckleton, Stephanie L. Rayner, Marco Morsch, Jasmin Galper, Albert Lee, Hamideh Shahheydari, Roger S. Chung, Emily K. Don, Ian P. Blair, Vinod Sundaramoorthy, Kelly L. Williams, Bingyang Shi, Serene S. L. Gwee, Adam K. Walker, Rowan A. W. Radford, Justin J. Yerbury, Julie D. Atkin, Audrey Ragagnin
Publikováno v:
Cellular and Molecular Life Sciences. 75:335-354
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative disorders that have common molecular and pathogenic characteristics, such as aberrant accumulation and ubiquitylation of TDP-43; however, the mechanisms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf250d9fd1f8a49e0587e6310ee11a3
https://doi.org/10.1007/s00018-017-2632-8
https://doi.org/10.1007/s00018-017-2632-8
Autor:
Sarah E. Freckleton, Jennifer A. Fifita, Dominic J. Hare, Glenda M. Halliday, Ian P. Blair, Kay L. Double, Simon J.G. Lewis, Benjamin G. Trist
Publikováno v:
Acta neuropathologica. 135(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b920dacb94778c5ff951d341da9dd6
https://pubmed.ncbi.nlm.nih.gov/29052003
https://pubmed.ncbi.nlm.nih.gov/29052003