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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Neurobiol Aging. 2021 Oct;106:351.e1-351.e6. doi: 10.1016/j.neurobiolaging.2021.05.009. Epub 2021 Jun 4.
Neurobiol Aging. 2021.
PMID: 34272080
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J…
See abstract for full author list ➔
Johnson JO, et al. Among authors: alahmady n.
JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.
JAMA Neurol. 2021.
PMID: 34459874
Free PMC article.
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Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis.
Savage AL, Lopez AI, Iacoangeli A, Bubb VJ, Smith B, Troakes C, Alahmady N, Koks S, Schumann GG, Al-Chalabi A, Quinn JP.
Savage AL, et al. Among authors: alahmady n.
Mol Brain. 2020 Nov 13;13(1):154. doi: 10.1186/s13041-020-00694-2.
Mol Brain. 2020.
PMID: 33187550
Free PMC article.
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K.
Rosenhahn E, et al. Among authors: alahmady nf.
Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. Epub 2022 Jul 12.
Am J Hum Genet. 2022.
PMID: 35830857
Free PMC article.
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Anticandidal Activity of a Siderophore from Marine Endophyte Pseudomonas aeruginosa Mgrv7.
Kotb E, Al-Abdalall AH, Ababutain I, AlAhmady NF, Aldossary S, Alkhaldi E, Alghamdi AI, Alzahrani HAS, Almuhawish MA, Alshammary MN, Ahmed AA.
Kotb E, et al. Among authors: alahmady nf.
Antibiotics (Basel). 2024 Apr 10;13(4):347. doi: 10.3390/antibiotics13040347.
Antibiotics (Basel). 2024.
PMID: 38667023
Free PMC article.
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Biochemical characterization of chamomile essential oil: Antioxidant, antibacterial, anticancer and neuroprotective activity and potential treatment for Alzheimer's disease.
Alahmady NF, Alkhulaifi FM, Abdullah Momenah M, Ali Alharbi A, Allohibi A, Alsubhi NH, Ahmed Alhazmi W.
Alahmady NF, et al.
Saudi J Biol Sci. 2024 Feb;31(2):103912. doi: 10.1016/j.sjbs.2023.103912. Epub 2023 Dec 16.
Saudi J Biol Sci. 2024.
PMID: 38229887
Free PMC article.
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