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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 J… See abstract for full author list ➔ Johnson JO, et al. Among authors: mclaughlin rl. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: mclaughlin rl. Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734901
A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: mclaughlin rl. Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4. Hum Mol Genet. 2010. PMID: 20685689
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.
Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, McLaughlin RL, Iyer PM, O'Brien C, Phukan J, Wynne B, Bokde AL, Bradley DG, Pender N, Al-Chalabi A, Hardiman O. Byrne S, et al. Among authors: mclaughlin rl. Lancet Neurol. 2012 Mar;11(3):232-40. doi: 10.1016/S1474-4422(12)70014-5. Epub 2012 Feb 3. Lancet Neurol. 2012. PMID: 22305801 Free PMC article.
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium; Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN, Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH, van Es MA, van Vught PW, Veldink JH, Yang Y, Zheng JG; ALSGEN Consortium. Ahmeti KB, et al. Among authors: mclaughlin rl. Neurobiol Aging. 2013 Jan;34(1):357.e7-19. doi: 10.1016/j.neurobiolaging.2012.07.017. Epub 2012 Sep 5. Neurobiol Aging. 2013. PMID: 22959728 Free PMC article.
Grey matter correlates of clinical variables in amyotrophic lateral sclerosis (ALS): a neuroimaging study of ALS motor phenotype heterogeneity and cortical focality.
Bede P, Bokde A, Elamin M, Byrne S, McLaughlin RL, Jordan N, Hampel H, Gallagher L, Lynch C, Fagan AJ, Pender N, Hardiman O. Bede P, et al. Among authors: mclaughlin rl. J Neurol Neurosurg Psychiatry. 2013 Jul;84(7):766-73. doi: 10.1136/jnnp-2012-302674. Epub 2012 Oct 20. J Neurol Neurosurg Psychiatry. 2013. PMID: 23085933
Multiparametric MRI study of ALS stratified for the C9orf72 genotype.
Bede P, Bokde AL, Byrne S, Elamin M, McLaughlin RL, Kenna K, Fagan AJ, Pender N, Bradley DG, Hardiman O. Bede P, et al. Among authors: mclaughlin rl. Neurology. 2013 Jul 23;81(4):361-9. doi: 10.1212/WNL.0b013e31829c5eee. Epub 2013 Jun 14. Neurology. 2013. PMID: 23771489 Free PMC article.
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP, McLaughlin RL, Byrne S, Elamin M, Heverin M, Kenny EM, Cormican P, Morris DW, Donaghy CG, Bradley DG, Hardiman O. Kenna KP, et al. Among authors: mclaughlin rl. J Med Genet. 2013 Nov;50(11):776-83. doi: 10.1136/jmedgenet-2013-101795. Epub 2013 Jul 23. J Med Genet. 2013. PMID: 23881933 Free PMC article.
Basal ganglia involvement in amyotrophic lateral sclerosis.
Bede P, Elamin M, Byrne S, McLaughlin RL, Kenna K, Vajda A, Pender N, Bradley DG, Hardiman O. Bede P, et al. Among authors: mclaughlin rl. Neurology. 2013 Dec 10;81(24):2107-15. doi: 10.1212/01.wnl.0000437313.80913.2c. Epub 2013 Nov 8. Neurology. 2013. PMID: 24212388
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