Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Amokelani C. Mahungu"'
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:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Genetic investigations of inherited neuromuscular disorders in Africans, have been neglected. We aimed to summarise the published data and comment on the genetic evidence related to inherited neuropathies (Charcot-Marie-Tooth dise
Externí odkaz:
https://doaj.org/article/263b03ca63a244eb908578f1a14993c3
Publikováno v:
Orphanet Journal of Rare Diseases
Background Genetic investigations of inherited neuromuscular disorders in Africans, have been neglected. We aimed to summarise the published data and comment on the genetic evidence related to inherited neuropathies (Charcot-Marie-Tooth disease (CMT)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c30bf3ecfd46454aab006e2f998547
https://pubmed.ncbi.nlm.nih.gov/35331287
https://pubmed.ncbi.nlm.nih.gov/35331287
Autor:
Melissa Nel, Amokelani C. Mahungu, Nomakhosazana Monnakgotla, Gerrit R. Botha, Nicola J. Mulder, Gang Wu, Evadnie Rampersaud, Marka van Blitterswijk, Joanne Wuu, Anne Cooley, Jason Myers, Rosa Rademakers, J. Paul Taylor, Michael Benatar, Jeannine M. Heckmann
Publikováno v:
Neurology : Genetics
Neurology: Genetics
article-version (Version of Record) 3
Neurology: Genetics
article-version (Version of Record) 3
Background and ObjectivesTo perform the first screen of 44 amyotrophic lateral sclerosis (ALS) genes in a cohort of African genetic ancestry individuals with ALS using whole-genome sequencing (WGS) data.MethodsOne hundred three consecutive cases with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd46c568bbc9366f731750a72a2d3b8
https://doi.org/10.1212/nxg.0000000000000654
https://doi.org/10.1212/nxg.0000000000000654
Autor:
Riaan van Coller, Jonathan Carr, Anastasia C. Rossouw, David G. Anderson, Soraya Bardien, Owen A. Ross, Amokelani C. Mahungu
Publikováno v:
Neurobiol Aging
Sequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi Jewish patients. Notably,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f9d7908e95639ca56728bb508e6e7e
https://europepmc.org/articles/PMC7085451/
https://europepmc.org/articles/PMC7085451/
