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1دورية أكاديمية
المؤلفون: 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
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: whole exome sequencing, whole genome sequencing, Charcot-Marie-Tooth disease, hereditary spastic paraplegia, African, equity, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1239725/fullTest; https://doaj.org/toc/1664-2295Test
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2دورية أكاديمية
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Hereditary spastic paraplegia, Genetic neuropathies, Charcot Marie Tooth disease, CMT, Spinal Muscular Atrophy, Africa, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3صورة
المؤلفون: 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
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, whole exome sequencing, whole genome sequencing, Charcot-Marie-Tooth disease, hereditary spastic paraplegia, African, equity, diversity and inclusion
الإتاحة: https://doi.org/10.3389/fneur.2023.1239725.s001Test
https://figshare.com/articles/figure/Image_1_The_mutational_profile_in_a_South_African_cohort_with_inherited_neuropathies_and_spastic_paraplegia_pdf/24046887Test -
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المساهمون: Department of Medicine, Faculty of Health Sciences
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Inherited neuromuscular disorders, Charcot Marie Tooth disease, Spastic Paraplegia, Hereditary, CMT, Hereditary spastic paraplegia, General Medicine, Neuromuscular Diseases, nervous system diseases, Genetic neuropathies, Muscular Atrophy, Spinal, Muscular Atrophy, Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy, Africa, Mutation, Humans, Pharmacology (medical), Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c30bf3ecfd46454aab006e2f998547Test
https://pubmed.ncbi.nlm.nih.gov/35331287Test -
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المؤلفون: 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
المصدر: Neurology : Genetics
Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: Human medicine, Neurology (clinical), Article, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd46c568bbc9366f731750a72a2d3b8Test
https://doi.org/10.1212/nxg.0000000000000654Test -
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المؤلفون: Riaan van Coller, Jonathan Carr, Anastasia C. Rossouw, David G. Anderson, Soraya Bardien, Owen A. Ross, Amokelani C. Mahungu
المصدر: Neurobiol Aging
مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Parkinson's disease, Pseudogene, Black People, Disease, Article, 03 medical and health sciences, Exon, South Africa, 0302 clinical medicine, Gene Frequency, Risk Factors, Medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele frequency, Genetic Association Studies, Genetics, Aged, 80 and over, business.industry, General Neuroscience, Genetic Variation, Parkinson Disease, Exons, medicine.disease, Genetic architecture, 030104 developmental biology, Glucosylceramidase, Female, Neurology (clinical), Geriatrics and Gerontology, business, Glucocerebrosidase, Nested polymerase chain reaction, 030217 neurology & neurosurgery, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f9d7908e95639ca56728bb508e6e7eTest
https://europepmc.org/articles/PMC7085451Test/