Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sharika Raga"'
Autor:
Surita Meldau, Sally Ackermann, Gillian Riordan, George F. van der Watt, Careni Spencer, Sharika Raga, Kashief Khan, Dee M. Blackhurst, Francois H. van der Westhuizen
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101078- (2024)
Leigh syndrome is a severe progressive mitochondrial disorder mainly affecting children under the age of 5 years. It is caused by pathogenic variants in any one of more than 75 known genes in the nuclear or mitochondrial genomes.A 19-week-old male in
Externí odkaz:
https://doaj.org/article/9892e44912304e90a1a247108609ce21
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:
Epileptic Disorders. 23:437-458
Generalized-onset seizures originate at a point within the brain and rapidly engage bilaterally distributed networks, whilst focal-onset seizures originate within networks limited to one hemisphere which may be discretely localized or more widely dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fbe6c901b5f9e5687fecd6b666c4944
https://doi.org/10.1684/epd.2021.1291
https://doi.org/10.1684/epd.2021.1291
Publikováno v:
Epileptic Disorders. 23:40-52
The term "developmental and epileptic encephalopathy" (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2c4117e664cce0e7e435bac4de32fb1
https://doi.org/10.1684/epd.2021.1244
https://doi.org/10.1684/epd.2021.1244
Autor:
Jo M. Wilmshurst, Sharika Raga
Publikováno v:
Seizure. 59:90-98
Implementation of international guidelines for the treatment of epileptic spasms, is challenging when access to adrenocorticotrophic hormone (ACTH) and vigabatrin is restricted, especially in Low and Middle Income Countries (LMIC). Oral corticosteroi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e28afacc70531cf71baa1953abc4456c
https://doi.org/10.1016/j.seizure.2018.05.008
https://doi.org/10.1016/j.seizure.2018.05.008