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Page 1
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Marriott H, et al. Among authors: al khleifat a. Ann Clin Transl Neurol. 2024 May 22. doi: 10.1002/acn3.52083. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38775181 Free article.
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K, Julian TH, Moll T, Iacoangeli A, Al Khleifat A, Quinn JP, Pfaff AL, Kõks S, Poulton J, Battle SL, Arking DE, Snyder MP; Project MinE ALS Sequencing Consortium; Veldink JH, Kenna KP, Shaw PJ, Cooper-Knock J. Harvey C, et al. Among authors: al khleifat a. Heliyon. 2024 Jan 24;10(3):e24975. doi: 10.1016/j.heliyon.2024.e24975. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38317984 Free PMC article.
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds.
Ryan M, Doherty MA, Al Khleifat A, Costello E, Hengeveld JC, Heverin M, Al-Chalabi A, Mclaughlin RL, Hardiman O. Ryan M, et al. Among authors: al khleifat a. Neurol Genet. 2023 Dec 22;10(1):e200112. doi: 10.1212/NXG.0000000000200112. eCollection 2024 Feb. Neurol Genet. 2023. PMID: 38149039 Free PMC article.
Analysis of non-motor symptoms in amyotrophic lateral sclerosis.
Shojaie A, Al Khleifat A, Sarraf P, Al-Chalabi A. Shojaie A, et al. Among authors: al khleifat a. Amyotroph Lateral Scler Frontotemporal Degener. 2024 May;25(3-4):237-241. doi: 10.1080/21678421.2023.2280618. Epub 2023 Nov 19. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 37981575
Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression.
Kalia M, Miotto M, Ness D, Opie-Martin S, Spargo TP, Di Rienzo L, Biagini T, Petrizzelli F, Al Khleifat A, Kabiljo R; Project MinE ALS Sequencing Consortium; SOD1-ALS clinical and genetic data collection group; Mazza T, Ruocco G, Milanetti E, Dobson RJ, Al-Chalabi A, Iacoangeli A. Kalia M, et al. Among authors: al khleifat a. Comput Struct Biotechnol J. 2023 Sep 17;21:5296-5308. doi: 10.1016/j.csbj.2023.09.016. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 37954145 Free PMC article.
VariantSurvival: a tool to identify genotype-treatment response.
Krannich T, Sarrias MH, Ben Aribi H, Shokrof M, Iacoangeli A, Al-Chalabi A, Sedlazeck FJ, Busby B, Al Khleifat A. Krannich T, et al. Among authors: al khleifat a. Front Bioinform. 2023 Oct 11;3:1277923. doi: 10.3389/fbinf.2023.1277923. eCollection 2023. Front Bioinform. 2023. PMID: 37885757 Free PMC article.
Non-motor symptoms in amyotrophic lateral sclerosis.
Shojaie A, Al Khleifat A, Opie-Martin S, Sarraf P, Al-Chalabi A. Shojaie A, et al. Among authors: al khleifat a. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):61-66. doi: 10.1080/21678421.2023.2263868. Epub 2024 Jan 23. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 37798838 Free PMC article.
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Spargo TP, Opie-Martin S, Hunt GP, Kalia M, Al Khleifat A, Topp SD, Shaw CE, Al-Chalabi A, Iacoangeli A; Project Mine ALS Sequencing Consortium. Spargo TP, et al. Among authors: al khleifat a. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug 3:1-10. doi: 10.1080/21678421.2023.2236650. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 37534756
Epidemiological and clinical profile of amyotrophic lateral sclerosis in Ethiopia: a 5-year multicenter retrospective study.
Melka D, Demisse H, Assefa H, Zenebe Y, A Ayele B, Awraris M, Gelan Y, Kifelew S, Fedlu M, Tsehayneh F, Zebenigus M, Alemayehu S, Tesfaye H, Gulelat H, Guta T, Tafesse A, Bekele N, Saez M, Veldink JH, Al-Chalabi A, Povedano M, Al Khleifat A. Melka D, et al. Among authors: al khleifat a. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Jul 26:1-9. doi: 10.1080/21678421.2023.2238016. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 37496277
Non-motor symptoms in amyotrophic lateral sclerosis: lessons from Parkinson's disease.
Shojaie A, Rota S, Al Khleifat A, Ray Chaudhuri K, Al-Chalabi A. Shojaie A, et al. Among authors: al khleifat a. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Jun 22:1-10. doi: 10.1080/21678421.2023.2220748. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 37349906 Review.
52 results