Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Simon Topp"'
Autor:
Delnaz Roshandel, Eric J. Sanders, Amy Shakeshaft, Naim Panjwani, Fan Lin, Amber Collingwood, Anna Hall, Katherine Keenan, Celine Deneubourg, Filippo Mirabella, Simon Topp, Jana Zarubova, Rhys H. Thomas, Inga Talvik, Marte Syvertsen, Pasquale Striano, Anna B. Smith, Kaja K. Selmer, Guido Rubboli, Alessandro Orsini, Ching Ching Ng, Rikke S. Møller, Kheng Seang Lim, Khalid Hamandi, David A. Greenberg, Joanna Gesche, Elena Gardella, Choong Yi Fong, Christoph P. Beier, Danielle M. Andrade, Heinz Jungbluth, Mark P. Richardson, Annalisa Pastore, Manolis Fanto, Deb K. Pal, Lisa J. Strug, the BIOJUME Consortium
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)
Abstract Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide association, colocalization, polygenic risk score, and pathway ana
Externí odkaz:
https://doaj.org/article/0e53d73306e54af3ab1a73130ecdcc88
Publikováno v:
Limnology and Oceanography Letters, Vol 7, Iss 4, Pp 287-301 (2022)
Abstract The dataset described here includes estimates of historical (1980–2020) daily surface water temperature, lake metadata, and daily weather conditions for lakes bigger than 4 ha in the conterminous United States (n = 185,549), and also in si
Externí odkaz:
https://doaj.org/article/8716d415b4d447b7b0cd4158c6b40867
Autor:
Ahmad Al Khleifat, Alfredo Iacoangeli, Joke J. F. A. van Vugt, Harry Bowles, Matthieu Moisse, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Aleksey Shatunov, Johnathan Cooper-Knock, Simon Topp, Ross Byrne, Cinzia Gellera, Victoria López, Ashley R. Jones, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica P. Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-8 (2022)
Abstract There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants o
Externí odkaz:
https://doaj.org/article/2c1accb04c5e475dbe0325f3e155c28c
Autor:
Ahmad Al Khleifat, Alfredo Iacoangeli, Ashley R. Jones, Joke J. F. A. van Vugt, Matthieu Moisse, Aleksey Shatunov, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Johnathan Cooper-Knock, Simon Topp, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Ross Byrne, Victoria López, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica Povedano Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons, leading to progressive weakness of voluntary muscles, with death following from neuromuscular respiratory failure
Externí odkaz:
https://doaj.org/article/61449fea63ae4dd59fb2a82311667ab2
Publikováno v:
Environmental Research Letters, Vol 18, Iss 6, p 064032 (2023)
Humans have drastically disrupted the global sediment cycle. Suspended sediment flux and concentration are key controls over both river morphology and river ecosystems. Our ability to understand sediment dynamics within river corridors is limited by
Externí odkaz:
https://doaj.org/article/038ea0fb0b6c4842b0db3ee1ecf25396
Publikováno v:
Journal of Advances in Modeling Earth Systems, Vol 13, Iss 6, Pp n/a-n/a (2021)
Abstract In land surface models (LSMs), the hydraulic properties of the subsurface are commonly estimated according to the texture of soils at the Earth's surface. This approach ignores macropores, fracture flow, heterogeneity, and the effects of var
Externí odkaz:
https://doaj.org/article/4f96fedb3e5d486f9389b677a1d0c7af
Publikováno v:
Stem Cell Research, Vol 52, Iss , Pp 102246- (2021)
Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, inclu
Externí odkaz:
https://doaj.org/article/178e13a7cc4245309523a87ef57bbac3
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:
Simon Topp
Publikováno v:
Contemporary Kanata: Interdisciplinary Approaches To Canadian Studies. :28-35
This paper is an ethnographic and sociological study of the neighborhood of Runnymede-Bloor West Village, identifying trends and drawing conclusions based on statistical data, academic theory, and notes taken during research trips. It is also worth n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53d719deb1c809dba0d352cffb32339d
https://doi.org/10.25071/2564-4661.22
https://doi.org/10.25071/2564-4661.22
Autor:
Rachel Michaelson-Cohen, Nada Alahmady, Agnes L. Nishimura, Moein Kanaan, Bradley N. Smith, Simon Topp, Rachel Eiges, Stephen Newhouse, Hagar Mor Shaked, Marc Gotkine, Gerome Breen, Caroline Vance, Chun Hao Wong, Martina de Majo, Silvina Epsztejn-Litman, Christopher Shaw, Yossef Lerner Y
Publikováno v:
Neurobiology of Aging. 106:1-6
Loss of function (LoF) mutations in Optineurin can cause recessive amyotrophic lateral sclerosis (ALS) with some heterozygous LoF mutations associated with dominant ALS. The molecular mechanisms underlying the variable inheritance pattern associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf14077770a0e54dfb122f5ff88a4e77
https://doi.org/10.1016/j.neurobiolaging.2021.05.009
https://doi.org/10.1016/j.neurobiolaging.2021.05.009