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Clinical testing panels for ALS: global distribution, consistency, and challenges.
Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK; Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Dilliott AA, et al. Among authors: nel m. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):420-435. doi: 10.1080/21678421.2023.2173015. Epub 2023 Mar 10. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36896705 Review.
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.
Lumaka A, Carstens N, Devriendt K, Krause A, Kulohoma B, Kumuthini J, Mubungu G, Mukisa J, Nel M, Olanrewaju TO, Lombard Z, Landouré G; as members of the Rare Disease Working Group of the H3Africa Consortium. Lumaka A, et al. Among authors: nel m. Orphanet J Rare Dis. 2022 Jun 16;17(1):230. doi: 10.1186/s13023-022-02391-w. Orphanet J Rare Dis. 2022. PMID: 35710439 Free PMC article.
A unique subphenotype of myasthenia gravis.
Heckmann JM, Nel M. Heckmann JM, et al. Among authors: nel m. Ann N Y Acad Sci. 2018 Jan;1412(1):14-20. doi: 10.1111/nyas.13471. Epub 2017 Oct 6. Ann N Y Acad Sci. 2018. PMID: 28984362 Review.
159 results