Zobrazeno 1 - 10
of 194
pro vyhledávání: '"Jo M Wilmshurst"'
Autor:
Adam Strzelczyk, Lieven Lagae, Jo M Wilmshurst, Andreas Brunklaus, Pasquale Striano, Felix Rosenow, Susanne Schubert‐Bast
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1256-1270 (2023)
Abstract We performed a systematic literature review and narrative synthesis according to a pre‐registered protocol (Prospero: CRD42022376561) to identify the evidence associated with the burden of illness in Dravet syndrome (DS), a developmental a
Externí odkaz:
https://doaj.org/article/1c4d31b23fcd4896a04ebb2d52b09c6c
Autor:
Petrus J de Vries, Loren Leclezio, Jo M Wilmshurst, Graham Fieggen, Errol Gottlich, Lorna Jacklin, Indiran P Naiker, Raj Newaj, Desmond Shamley, Birgit Schlegel, Andre Venter
Publikováno v:
South African Medical Journal, Vol 107, Iss 5, Pp 368-378 (2017)
Tuberous sclerosis complex (TSC) is a genetic disorder with multi-system manifestations and a high burden of disease. In 2013, an international panel of TSC experts revised the guidelines for the diagnosis, surveillance and treatment of the disorder.
Externí odkaz:
https://doaj.org/article/a7ff20d4f8524719a9363f50d12b72c3
Autor:
Jo Sourbron, Stéphane Auvin, Alexis Arzimanoglou, J. Helen Cross, Hans Hartmann, Ronit Pressler, Kate Riney, Kenji Sugai, Jo M. Wilmshurst, Elissa Yozawitz, Lieven Lagae
Publikováno v:
Epilepsia Open, Vol 8, Iss 1, Pp 77-89 (2023)
Abstract Objective Antiseizure medications (ASMs) remain the mainstay of epilepsy treatment. These ASMs have mainly been tested in trials in adults with epilepsy, which subsequently led to market authorization (MA). For treatment of – especially yo
Externí odkaz:
https://doaj.org/article/d7e8ed31b1b44f2d8effbe4dcf7b5c7a
Autor:
Amokelani C. Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A. Wilson, Jana Vandrovcova, Mary M. Reilly, Christopher J. Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M. Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M. Heckmann
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionLimited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes underlying genetic neuropathy (GN) and spastic ataxias in Europeans. I
Externí odkaz:
https://doaj.org/article/3354b92f98f0463d9b4728d5c6661a56
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/4bd420810c7e484183170d198a052014
Publikováno v:
Pediatric Neurology. 144:16-18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2be79eff55076b95fbda583d063d6aa
https://doi.org/10.1016/j.pediatrneurol.2023.04.004
https://doi.org/10.1016/j.pediatrneurol.2023.04.004
Autor:
Jo Sourbron, Stéphane Auvin, Alexis Arzimanoglou, J. Helen Cross, Hans Hartmann, Ronit Pressler, Kate Riney, Kenji Sugai, Jo M. Wilmshurst, Elissa Yozawitz, Lieven Lagae
Publikováno v:
Epilepsia Open. 8:77-89
OBJECTIVE: Antiseizure medications (ASMs) remain the mainstay of epilepsy treatment. These ASMs have mainly been tested in trials in adults with epilepsy, which subsequently led to market authorization (MA). For treatment of - especially young - chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f3874c9d31ae81ecaf9412b2a9eb921
https://doi.org/10.1002/epi4.12666
https://doi.org/10.1002/epi4.12666
Publikováno v:
Developmental Medicine & Child Neurology. 65:526-533
To better understand the aetiologies of epileptic spasms in infants, as well as the safety and efficacy of high dose corticosteroids in tuberculosis and human immunodeficiency virus (HIV) endemic resource-limited settings.This was a retrospective ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::188bb40ed12916a14ee4800ea602972a
https://doi.org/10.1111/dmcn.15433
https://doi.org/10.1111/dmcn.15433
Autor:
Ilona, Krey, Konrad, Platzer, Alina, Esterhuizen, Samuel F, Berkovic, Ingo, Helbig, Michael S, Hildebrand, Holger, Lerche, Daniel, Lowenstein, Rikke S, Møller, Annapurna, Poduri, Lynette, Sadleir, Sanjay M, Sisodiya, Sarah, Weckhuysen, Jo M, Wilmshurst, Yvonne, Weber, Johannes R, Lemke, Samuel F., Berkovic, J. Helen, Cross, Heathea C., Mefford, Piero, Perucca, Nigel C.K., Tan, Hande, Caglayan, Katherine, Helbig, Gagandeep, Singh
Publikováno v:
Epileptic disorders
Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances in genomic knowledg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24aef99116abd652d701daacf1821872
https://doi.org/10.1684/epd.2022.1448
https://doi.org/10.1684/epd.2022.1448
Autor:
Lara Jehi, Nathalie Jette, Churl‐Su Kwon, Colin B. Josephson, Jorge G. Burneo, Fernando Cendes, Michael R. Sperling, Sallie Baxendale, Robyn M. Busch, Chahnez Charfi Triki, J. Helen Cross, Dana Ekstein, Dario J. Englot, Guoming Luan, Andre Palmini, Loreto Rios, Xiongfei Wang, Karl Roessler, Bertil Rydenhag, Georgia Ramantani, Stephan Schuele, Jo M. Wilmshurst, Sarah Wilson, Samuel Wiebe
Publikováno v:
Epilepsia. 63:2491-2506
Epilepsy surgery is the treatment of choice for patients with drug-resistant seizures. A timely evaluation for surgical candidacy can be life-saving for patients who are identified as appropriate surgical candidates, and may also enhance the care of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6630d6ab89fadfd0d528304d192f9da
https://doi.org/10.1111/epi.17350
https://doi.org/10.1111/epi.17350