Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Lisa M S Clayton"'
Autor:
Dalia Kasperavičiūtė, Claudia B Catarino, Krishna Chinthapalli, Lisa M S Clayton, Maria Thom, Lillian Martinian, Hannah Cohen, Shazia Adalat, Detlef Bockenhauer, Simon A Pope, Nicholas Lench, Martin Koltzenburg, John S Duncan, Peter Hammond, Raoul C M Hennekam, John M Land, Sanjay M Sisodiya
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e23182 (2011)
Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained.We describe three patients with common, sporadic,
Externí odkaz:
https://doaj.org/article/20b3dea1c45749b0aaf2ee6429597147
Autor:
Galia Wilson, Matthias J. Koepp, Lisa M. S. Clayton, Claire Eldred, Simona Balestrini, J. Helen Cross, Sanjay M. Sisodiya, Helen Evans
Publikováno v:
Epilepsy & Behavior
Background The COVID-19 pandemic led to the urgent need for accelerated vaccine development. Approved vaccines have proved to be safe and well tolerated across millions of people in the general population. Dravet syndrome (DS) is a severe, early onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb4da9ac5143f32c25211ed73472e2c
https://pubmed.ncbi.nlm.nih.gov/34536735
https://pubmed.ncbi.nlm.nih.gov/34536735
Autor:
Paul M. Matthews, Anne-Mari Kantanen, Dena G. Hernandez, David A. Hosford, Mohamad A. Mikati, Heinz Gregor Wieser, Sarah K. Tate, Günter Krämer, Reetta Kälviäinen, Jörg Hansen, Lefkos T. Middleton, Bernhard J. Steinhoff, Dominik Zumsteg, Josemir W. Sander, Massimo Pandolfo, Leslie Amos, Norman Delanty, Saud Alhusaini, David Goldstein, Marvin Johnson, Krishna Chinthapalli, John S. Duncan, Marcos Ortega, Sanjay M. Sisodiya, Leif Gjerstad, Aatif M. Husain, Chantal Depondt, Kai Eriksson, Dalia Kasperavičiūtė, David Leppert, Jenny Jamnadas-Khoda, Erin L. Heinzen, Terhi Peuralinna, Claudia B. Catarino, Rodney A. Radtke, Colin P. Doherty, Kevin V. Shianna, Lisa M. S. Clayton, Luis O. Caboclo, Thomas Dorn, William Gallentine, Nicholas W. Wood, Kjell Heuser, Gianpiero L. Cavalleri, Rachel A. Gibson
Publikováno v:
Brain
Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02403ba1003d2fdaebea642438b670ca
http://doc.rero.ch/record/295093/files/awq130.pdf
http://doc.rero.ch/record/295093/files/awq130.pdf
Autor:
Nicholas J Wood, Suran Nethisinghe, Michael H Parkinson, Rolph Pfundt, J. Paul Chapple, Paola Giunti, Hadi Manji, Ana Paula Bartmann, Lisa M. S. Clayton, Mary M. Reilly, Fion Bremner
Publikováno v:
Brain, 141, 989-999
Brain, 141, 4, pp. 989-999
Brain, 141, 4, pp. 989-999
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by mutations in the SACS gene. Thickened retinal nerve fibres visible on fundoscopy have previously been described in these patients; however, thick
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50f3c7d3bc34bb1b8bd39e9db7f4f183
https://pubmed.ncbi.nlm.nih.gov/29538656
https://pubmed.ncbi.nlm.nih.gov/29538656
Autor:
Sanjay M. Sisodiya, Lisa M. S. Clayton, William M. Stern, Josemir W. Sander, William D. Newman, James Acheson
Publikováno v:
Epilepsy Research. 105:262-271
Summary Purpose Vigabatrin-associated visual field loss (VAVFL) occurs in around 45% of exposed people. It is generally accepted that, once established, VAVFL is stable and does not progress with continued VGB use. Most studies have, however, only fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54b2cd220fff81d90367670050dd10e2
https://doi.org/10.1016/j.eplepsyres.2013.02.014
https://doi.org/10.1016/j.eplepsyres.2013.02.014
Autor:
Suran Nethisinghe, Fion Bremner, J. Paul Chapple, Mary M. Reilly, Paola Giunti, Lisa M. S. Clayton, Sascha Vermeer
Publikováno v:
Neuro-Ophthalmology. 35:197-201
A case is described of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genetic analysis has shown that two mutant genes encoding the sacsin protein have been inherited one from each parent. In the proband the thickness of the nerve fibre l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e63b0e733ac15cfb8e6d90d73382bf17
https://doi.org/10.3109/01658107.2011.595043
https://doi.org/10.3109/01658107.2011.595043
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 87:e1.147-e1
Ten major risk factors account for 90% of the population attributable stroke risk. Smartphone applications may be used for education and self-managing risk factors. We aimed to explore use and attitudes towards smartphones in a TIA clinic. Methods Fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::834c8101ce12b2e14059dbe92075fff3
https://doi.org/10.1136/jnnp-2016-315106.230
https://doi.org/10.1136/jnnp-2016-315106.230
Autor:
Emanuele Bartolini, Sanjay M. Sisodiya, Carla Marini, Melania Falchi, Raoul C.M. Hennekam, Chantal Depondt, Jan Novy, Zoe Fox, Peter Hammond, Krishna Chinthapalli, Josemir W. Sander, Michael Suttie, Lisa M. S. Clayton, Renzo Guerrini
Publikováno v:
Brain, 135(10), 3101-3114. Oxford University Press
Brain
Brain, 135 (Pt 10
Brain
Brain, 135 (Pt 10
Many pathogenic structural variants of the human genome are known to cause facial dysmorphism. During the past decade, pathogenic structural variants have also been found to be an important class of genetic risk factor for epilepsy. In other fields,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f67bd95c0af0812ab7ffac1b945a98
https://pure.amc.nl/en/publications/atypical-face-shape-and-genomic-structural-variants-in-epilepsy(0143f593-0e32-4e49-ab01-af5c9ade2c00).html
https://pure.amc.nl/en/publications/atypical-face-shape-and-genomic-structural-variants-in-epilepsy(0143f593-0e32-4e49-ab01-af5c9ade2c00).html
Autor:
Marita Devile, James Acheson, Trusjen Punte, Josemir W. Sander, Lisa M. S. Clayton, Gerrit-Jan de Haan, Sanjay M. Sisodiya
Publikováno v:
Ophthalmology. 119(10)
To explore the relationship of peripapillary retinal nerve fiber layer (ppRNFL) thinning in individuals exposed to the antiepileptic drug vigabatrin with respect to 2 separate variables: cumulative vigabatrin exposure and severity of vigabatrin-assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce1bafadf0a2025df9d12951255084a
https://pubmed.ncbi.nlm.nih.gov/22853973
https://pubmed.ncbi.nlm.nih.gov/22853973
Autor:
Claudia B. Catarino, Erin L. Heinzen, Mohamad A. Mikati, Paul M. Matthews, Heinz Gregor Wieser, Patrick G. Buckley, Jörg Hansen, Chantal Depondt, Josemir W. Sander, David Goldstein, Colin P. Doherty, Günter Krämer, Sanjay M. Sisodiya, Nicholas W. Wood, Kevin V. Shianna, Dalia Kasperaviciūte, Dominik Zumsteg, Sarah K. Tate, Anna C. Need, Norman Delanty, Gianpiero L. Cavalleri, Massimo Pandolfo, Julie Huxley-Jones, Reetta Kälviäinen, Marcos Ortega, Curtis Gumbs, Thomas Dorn, William Gallentine, John S. Duncan, Aatif M. Husain, Anne-Mari Kantanen, Marvin Johnson, Kai Eriksson, Rachel A. Gibson, Rodney A. Radtke, Kristen N. Linney, David Leppert, Raymond L. Stallings, Nicole M. Walley, Lefkos T. Middleton, Bernhard J. Steinhoff, Lisa M. S. Clayton, Kenneth D. Cronin, Mihai V. Podgoreanu, David A. Hosford, Paola Nicoletti, Thomas J. Urban, Jessica M. Maia, Dongliang Ge, Jason Smith, Luis O. Caboclo
Publikováno v:
American journal of human genetics, 86 (5
Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daa446bdc825ea3a3f8707394123fdd0
https://pubmed.ncbi.nlm.nih.gov/20398883
https://pubmed.ncbi.nlm.nih.gov/20398883