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Page 1
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 JH, van … See abstract for full author list ➔ Johnson JO, et al. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Ophthalmic abnormalities in Wieacker-Wolff syndrome.
Comlekoglu T, Kumar V, King K, Al Saif H, Li R, Couser N. Comlekoglu T, et al. J AAPOS. 2022 Apr;26(2):91-93. doi: 10.1016/j.jaapos.2021.10.010. Epub 2022 Feb 1. J AAPOS. 2022. PMID: 35121145
Gliosarcoma case report and review of the literature.
Awadalla AS, Al Essa AM, Al Ahmadi HH, Al Ojan A, Muazen Y, Alsayyah A, Alsaif H, Alsafwani NS. Awadalla AS, et al. Pan Afr Med J. 2020 Feb 3;35:26. doi: 10.11604/pamj.2020.35.26.17577. eCollection 2020. Pan Afr Med J. 2020. PMID: 32341747 Free PMC article. Review.
Sclerosing Encapsulating Carcinomatous Peritonitis: A Case Report.
Alshomimi S, Hassan A, Faisal Z, Mohammed A, Al Dandan O, Alsaif HS. Alshomimi S, et al. Saudi J Med Med Sci. 2021 Jan-Apr;9(1):63-66. doi: 10.4103/sjmms.sjmms_275_19. Epub 2020 Oct 13. Saudi J Med Med Sci. 2021. PMID: 33519346 Free PMC article.
67 results