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The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Front Neurol. 2023 Aug 29;14:1239725. doi: 10.3389/fneur.2023.1239725. eCollection 2023.
Front Neurol. 2023.
PMID: 37712079
Free PMC article.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG.
Wilson LA, et al. Among authors: mahungu ac.
Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254.
Brain. 2023.
PMID: 37516995
Free PMC article.
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Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.
Monnakgotla NR, Mahungu AC, Heckmann JM, Botha G, Mulder NJ, Wu G, Rampersaud E, Myers J, Van Blitterswijk M, Rademakers R, Taylor JP, Wuu J, Benatar M, Nel M.
Monnakgotla NR, et al. Among authors: mahungu ac.
Neurol Genet. 2023 Jun 16;9(4):e200077. doi: 10.1212/NXG.0000000000200077. eCollection 2023 Aug.
Neurol Genet. 2023.
PMID: 37346932
Free PMC article.
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A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC, Monnakgotla N, Nel M, Heckmann JM.
Mahungu AC, et al.
Orphanet J Rare Dis. 2022 Mar 24;17(1):133. doi: 10.1186/s13023-022-02280-2.
Orphanet J Rare Dis. 2022.
PMID: 35331287
Free PMC article.
Review.
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Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.
Nel M, Mahungu AC, Monnakgotla N, Botha GR, Mulder NJ, Wu G, Rampersaud E, van Blitterswijk M, Wuu J, Cooley A, Myers J, Rademakers R, Taylor JP, Benatar M, Heckmann JM.
Nel M, et al. Among authors: mahungu ac.
Neurol Genet. 2022 Jan 12;8(1):e654. doi: 10.1212/NXG.0000000000000654. eCollection 2022 Feb.
Neurol Genet. 2022.
PMID: 35047667
Free PMC article.
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Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.
Mahungu AC, Anderson DG, Rossouw AC, van Coller R, Carr JA, Ross OA, Bardien S.
Mahungu AC, et al.
Neurobiol Aging. 2020 Apr;88:156.e11-156.e14. doi: 10.1016/j.neurobiolaging.2019.12.011. Epub 2019 Dec 20.
Neurobiol Aging. 2020.
PMID: 32035846
Free PMC article.
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