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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, Ve… See abstract for full author list ➔ Johnson JO, et al. Among authors: smith bn, smith n. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE. Baron DM, et al. Cell Rep. 2022 Apr 5;39(1):110598. doi: 10.1016/j.celrep.2022.110598. Cell Rep. 2022. PMID: 35385738 Free PMC article.
LRRK2 mediates microglial neurotoxicity via NFATc2 in rodent models of synucleinopathies.
Kim C, Beilina A, Smith N, Li Y, Kim M, Kumaran R, Kaganovich A, Mamais A, Adame A, Iba M, Kwon S, Lee WJ, Shin SJ, Rissman RA, You S, Lee SJ, Singleton AB, Cookson MR, Masliah E. Kim C, et al. Among authors: smith n. Sci Transl Med. 2020 Oct 14;12(565):eaay0399. doi: 10.1126/scitranslmed.aay0399. Sci Transl Med. 2020. PMID: 33055242 Free PMC article.
Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.
Mamais A, Kluss JH, Bonet-Ponce L, Landeck N, Langston RG, Smith N, Beilina A, Kaganovich A, Ghosh MC, Pellegrini L, Kumaran R, Papazoglou I, Heaton GR, Bandopadhyay R, Maio N, Kim C, LaVoie MJ, Gershlick DC, Cookson MR. Mamais A, et al. Among authors: smith n. PLoS Biol. 2021 Dec 16;19(12):e3001480. doi: 10.1371/journal.pbio.3001480. eCollection 2021 Dec. PLoS Biol. 2021. PMID: 34914695 Free PMC article.
Correction: Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.
Mamais A, Kluss JH, Bonet-Ponce L, Landeck N, Langston RG, Smith N, Beilina A, Kaganovich A, Ghosh MC, Pellegrini L, Kumaran R, Papazoglou I, Heaton GR, Harvey K, Bandopadhyay R, Maio N, Kim C, LaVoie MJ, Gershlick DC, Cookson MR. Mamais A, et al. Among authors: smith n. PLoS Biol. 2022 May 4;20(5):e3001621. doi: 10.1371/journal.pbio.3001621. eCollection 2022 May. PLoS Biol. 2022. PMID: 35507910 Free PMC article.
Evaluation of Current Methods to Detect Cellular Leucine-Rich Repeat Kinase 2 (LRRK2) Kinase Activity.
Fernández B, Chittoor-Vinod VG, Kluss JH, Kelly K, Bryant N, Nguyen APT, Bukhari SA, Smith N, Lara Ordóñez AJ, Fdez E, Chartier-Harlin MC, Montine TJ, Wilson MA, Moore DJ, West AB, Cookson MR, Nichols RJ, Hilfiker S. Fernández B, et al. Among authors: smith n. J Parkinsons Dis. 2022;12(5):1423-1447. doi: 10.3233/JPD-213128. J Parkinsons Dis. 2022. PMID: 35599495 Free PMC article.
Increased levels of GM-CSF and CXCL10 and low CD8+ memory stem T Cell count are markers of immunosenescence and severe COVID-19 in older people.
Poisson J, El-Sissy C, Serret-Larmande A, Smith N, Lebraud M, Augy JL, Conti C, Gonnin C, Planquette B, Arlet JB, Hermann B, Charbit B, Pastre J, Devaux F, Ladavière C, Lim L, Ober P, Cannovas J, Biard L, Gulczynski MC, Blumenthal N, Péré H, Knosp C, Gey A, Benhamouda N, Murris J, Veyer D, Tartour E, Diehl JL, Duffy D, Paillaud E, Granier C. Poisson J, et al. Among authors: smith n. Immun Ageing. 2024 May 7;21(1):28. doi: 10.1186/s12979-024-00430-7. Immun Ageing. 2024. PMID: 38715114
Quantifying Posttraumatic Stress Disorder Symptoms During Traumatic Memories Using Interpretable Markers of Respiratory Variability.
Gazi AH, Sanchez-Perez JA, Saks GL, Alday EAP, Haffar A, Ahmed H, Herraka D, Tarlapally N, Smith NL, Bremner JD, Shah AJ, Inan OT, Vaccarino V. Gazi AH, et al. Among authors: smith nl. IEEE J Biomed Health Inform. 2024 May 7;PP. doi: 10.1109/JBHI.2024.3397589. Online ahead of print. IEEE J Biomed Health Inform. 2024. PMID: 38713564
5,732 results