Zobrazeno 1 - 10
of 151
pro vyhledávání: '"Mark I. Rees"'
Autor:
Rhian Evans, Lewis M. Watkins, Kristen Hawkins, Gabriella Santiago, Constantinos Demetriou, Michelle Naughton, Marie Dittmer, Mark I. Rees, Denise Fitzgerald, B. Paul Morgan, James W. Neal, Owain W. Howell
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
BackgroundThe extent of cortical pathology is an important determinant of multiple sclerosis (MS) severity. Cortical demyelination and neurodegeneration are related to inflammation of the overlying leptomeninges, a more inflammatory CSF milieu and wi
Externí odkaz:
https://doaj.org/article/96a8f935c0644fc9baef94130d00bb8b
Autor:
Amy Shakeshaft, Naim Panjwani, Amber Collingwood, Holly Crudgington, Anna Hall, Danielle M. Andrade, Christoph P. Beier, Choong Yi Fong, Elena Gardella, Joanna Gesche, David A. Greenberg, Khalid Hamandi, Jeanette Koht, Kheng Seang Lim, Rikke S. Møller, Ching Ching Ng, Alessandro Orsini, Mark I. Rees, Guido Rubboli, Kaja K. Selmer, Pasquale Striano, Marte Syvertsen, Rhys H. Thomas, Jana Zarubova, Mark P. Richardson, Lisa J. Strug, Deb K. Pal
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants,
Externí odkaz:
https://doaj.org/article/ce5efddaacb740b59bf91b0f7940175e
Autor:
Costin Leu, Simona Balestrini, Bridget Maher, Laura Hernández-Hernández, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha Schoeler, Jan Novy, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O'Regan, William O. Pickrell, Rhys H. Thomas, Seo-Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya
Publikováno v:
EBioMedicine, Vol 2, Iss 9, Pp 1063-1070 (2015)
Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The precise pathophysiology and the genetic architecture of SUDEP r
Externí odkaz:
https://doaj.org/article/c17cbb036c8f454c88b34a60b24d288b
Autor:
Ann J. Johnston, Jing-Qiong Kang, Wangzhen Shen, William O. Pickrell, Thomas D. Cushion, Jeffrey S. Davies, Kristin Baer, Jonathan G.L. Mullins, Carrie L. Hammond, Seo-Kyung Chung, Rhys H. Thomas, Cathy White, Phil E.M. Smith, Robert L. Macdonald, Mark I. Rees
Publikováno v:
Neurobiology of Disease, Vol 64, Iss , Pp 131-141 (2014)
Genetic mutations in voltage-gated and ligand-gated ion channel genes have been identified in a small number of Mendelian families with genetic generalised epilepsies (GGEs). They are commonly associated with febrile seizures (FS), childhood absence
Externí odkaz:
https://doaj.org/article/dc9b7994a81047c3aaaafe890e39676e
Autor:
Victoria M. James, Anna Bode, Seo-Kyung Chung, Jennifer L. Gill, Maartje Nielsen, Frances M. Cowan, Mihailo Vujic, Rhys H. Thomas, Mark I. Rees, Kirsten Harvey, Angelo Keramidas, Maya Topf, Ieke Ginjaar, Joseph W. Lynch, Robert J. Harvey
Publikováno v:
Neurobiology of Disease, Vol 52, Iss , Pp 137-149 (2013)
Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli. Mutations in the GlyR α1 subunit gene (GLRA1) are the
Externí odkaz:
https://doaj.org/article/2416d2ebd5154312a92a8283981fdc14
Autor:
Jennifer L. Gill, Deborah Capper, Jean-François Vanbellinghen, Seo-Kyung Chung, Robert J. Higgins, Mark I. Rees, G. Diane Shelton, Robert J. Harvey
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 1, Pp 184-189 (2011)
Defects in glycinergic synaptic transmission in humans, cattle, and rodents result in an exaggerated startle reflex and hypertonia in response to either acoustic or tactile stimuli. Molecular genetic studies have determined that mutations in the gene
Externí odkaz:
https://doaj.org/article/c16991afaaf14653899414c8d0f2eef6
Autor:
Suzanne J. Reid, Mark I. Rees, Willeke M.C. van Roon-Mom, A.Lesley Jones, Marcy E. MacDonald, Greg Sutherland, Matthew J. During, Richard L.M. Faull, Michael J. Owen, Mike Dragunow, Russell G. Snell
Publikováno v:
Neurobiology of Disease, Vol 13, Iss 1, Pp 37-45 (2003)
Recently, an inherited spinocerebellar ataxia (SCA17) has been attributed to polyglutamine coding expansions within the gene coding for human TATA-box binding protein (TBP). The normal repeat range is 25–42 units with patients having as few as 46 r
Externí odkaz:
https://doaj.org/article/1fcb9f531c064e41b56b2d9afc9efd38
Autor:
Fatemeh Torabi, Daniel Harris, William O. Pickrell, Ashley Akbari, Ronan A Lyons, Robert Powell, Julian Halcox, Mark I. Rees, Beata Fonferko-Shadrach, Arron Lacey, Inder Sawhney, Elinor Lee-Lane
Publikováno v:
Epilepsia. 62:1604-1616
OBJECTIVE This study was undertaken to determine whether epilepsy and antiepileptic drugs (including enzyme-inducing and non-enzyme-inducing drugs) are associated with major cardiovascular events using population-level, routinely collected data. METH
Autor:
Bronwyn E. Grinton, Erandee Robertson, Liam G. Fearnley, Ingrid E. Scheffer, Anthony G. Marson, Terence J. O’Brien, W. Owen Pickrell, Mark I. Rees, Sanjay M. Sisodiya, David J. Balding, Mark F. Bennett, Melanie Bahlo, Samuel F. Berkovic, Karen L. Oliver
Publikováno v:
Am J Hum Genet
Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant familial epilepsy syndrome characterized by distinctive phenotypic heterogeneity within families. The SCN1B c.363C>G (p.Cys121Trp) variant has been identified in independent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88ca462d72deb4ffe681da56700c67b
https://cronfa.swan.ac.uk/Record/cronfa61445
https://cronfa.swan.ac.uk/Record/cronfa61445
Autor:
Inder Sawhney, Mark I. Rees, Arron Lacey, Beata Fonferko-Shadrach, David Miakdze, Daniels Helen, Ashley Akbari, Robert Powell, Joe Hollinghurst, Ronan A Lyons, Owen Pickrell, Michael Patrick Kerr
Publikováno v:
Seizure
Purpose: The COVID-19 pandemic has increased mortality worldwide and those with chronic conditions may have been disproportionally affected. However, it is unknown whether the pandemic has changed mortality rates for people with epilepsy. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d1bd8f84817a8bcf43ba38c44e378f2
https://cronfa.swan.ac.uk/Record/cronfa58860/Download/58860__21860__0a1c5cf4f4b84a2aac3305ba672b92b5.pdf
https://cronfa.swan.ac.uk/Record/cronfa58860/Download/58860__21860__0a1c5cf4f4b84a2aac3305ba672b92b5.pdf