Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Carol Dobson- Stone"'
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 6 (2023)
Externí odkaz:
https://doaj.org/article/e06dc8e6a4584725ab2c97086fac24bc
Autor:
Artur Shvetcov, Shannon Thomson, Jessica Spathos, Ann-Na Cho, Heather M. Wilkins, Shea J. Andrews, Fabien Delerue, Timothy A. Couttas, Jasmeen Kaur Issar, Finula Isik, Simranpreet Kaur, Eleanor Drummond, Carol Dobson-Stone, Shantel L. Duffy, Natasha M. Rogers, Daniel Catchpoole, Wendy A. Gold, Russell H. Swerdlow, David A. Brown, Caitlin A. Finney
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 19, p 15011 (2023)
Alzheimer’s disease (AD) is a growing global health crisis affecting millions and incurring substantial economic costs. However, clinical diagnosis remains challenging, with misdiagnoses and underdiagnoses being prevalent. There is an increased foc
Externí odkaz:
https://doaj.org/article/04679cb5593d454884755b442e29c5de
Autor:
Lisa J. Oyston, Stephanie Ubiparipovic, Lauren Fitzpatrick, Marianne Hallupp, Lauren M. Boccanfuso, John B. Kwok, Carol Dobson-Stone
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Identified genetic mutations cause 20% of frontotemporal dementia (FTD) and 5-10% of amyotrophic lateral sclerosis (ALS) cases: however, for the remainder of patients the origin of disease is uncertain. The overlap in genetic, clinical and p
Externí odkaz:
https://doaj.org/article/d6b114cd448a4c3994d1dd8d4af96bb4
Autor:
Emma M. Devenney, Kate McErlean, Nga Yan Tse, Jashelle Caga, Thanuja Dharmadasa, William Huynh, Colin J. Mahoney, Margaret Zoing, Srestha Mazumder, Carol Dobson-Stone, John B. Kwok, Glenda M. Halliday, John R. Hodges, Olivier Piguet, Rebekah M. Ahmed, Matthew C. Kiernan
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: This study aimed to establish (1) the pattern and severity of neuropsychiatric symptoms and other non-motor symptoms of sleep and mood, across ALS phenotypes in comparison to bvFTD and (2) the contribution of non-modifiable factors includi
Externí odkaz:
https://doaj.org/article/699516c0614b4b02a87827e30181fbbd
Publikováno v:
Neurobiology of Disease, Vol 145, Iss , Pp 105082- (2020)
Causative genes involved in familial forms of dementias, including Alzheimer's disease (AD), frontotemporal lobar degeneration (FTLD) and dementia with Lewy bodies (DLB), as well as amyotrophic lateral sclerosis and prion diseases where dementia is p
Externí odkaz:
https://doaj.org/article/11491c70bdf2446ea0ead6b42af55778
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Autor:
Lyndal Henden, Liam G. Fearnley, Natalie Grima, Emily P. McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B. Rowe, Susan D’Silva, John B. Kwok, Glenda M. Halliday, Matthew C. Kiernan, Srestha Mazumder, Hannah C. Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P. Blair, Kelly L. Williams
Publikováno v:
Science Advances. 9
Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), we used ExpansionHunter, REviewer, and
Autor:
Rachel H. Tan, Yue Yang, Woojin S. Kim, Carol Dobson-Stone, John B. Kwok, Matthew C. Kiernan, Glenda M. Halliday
Publikováno v:
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-7 (2017)
Abstract The identification of the TAR DNA-binding protein 43 (TDP-43) as the ubiquitinated cytoplasmic inclusions in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) confirmed that these two diseases share similar mec
Externí odkaz:
https://doaj.org/article/7cde02c9a4dd433a81e5e80e29a4a474
Autor:
Nga Yan Tse, Sicong Tu, Yu Chen, Jashelle Caga, Carol Dobson-Stone, John B. Kwok, Glenda M. Halliday, Rebekah M. Ahmed, John R. Hodges, Olivier Piguet, Matthew C. Kiernan, Emma M. Devenney
Publikováno v:
Journal of Neurology. 269:4241-4252
Background Psychiatric presentations similar to that observed in primary psychiatric disorders are well described across the amyotrophic lateral sclerosis–frontotemporal dementia (ALS–FTD) spectrum. Despite this, schizotypal personality traits as
Autor:
Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutation
Externí odkaz:
https://doaj.org/article/1861832d934c49a490f60c7997786e48
Autor:
Lisa J. Oyston, Lauren M. Boccanfuso, Lauren Fitzpatrick, Johnny Zhang, Marianne Hallupp, John B. Kwok, Carol Dobson-Stone
BackgroundFrontotemporal dementia (FTD) is one of the most common forms of younger-onset dementia. FTD is genetically, pathologically and clinically related to amyotrophic lateral sclerosis (ALS), a rapidly progressive neurodegenerative disorder. Mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::651498a8f064ad2fbae39415653052ff
https://doi.org/10.1101/2022.06.02.494603
https://doi.org/10.1101/2022.06.02.494603