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Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.
Adey BN, Cooper-Knock J, Al Khleifat A, Fogh I, van Damme P, Corcia P, Couratier P, Hardiman O, McLaughlin R, Gotkine M, Drory V, Silani V, Ticozzi N, Veldink JH, van den Berg LH, de Carvalho M, Pinto S, Mora Pardina JS, Povedano Panades M, Andersen PM, Weber M, Başak NA, Shaw CE, Shaw PJ, Morrison KE, Landers JE, Glass JD, Vourc'h P, Dobson RJB, Breen G, Al-Chalabi A, Jones AR, Iacoangeli A. Adey BN, et al. Among authors: jones ar. Front Cell Neurosci. 2023 Mar 2;17:1112405. doi: 10.3389/fncel.2023.1112405. eCollection 2023. Front Cell Neurosci. 2023. PMID: 36937187 Free PMC article.
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
Al Khleifat A, Iacoangeli A, Jones AR, van Vugt JJFA, Moisse M, Shatunov A, Zwamborn RAJ, van der Spek RAA, Cooper-Knock J, Topp S, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Byrne R, López V, Opie-Martin S, Vural A, Campos Y, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Al Khleifat A, et al. Among authors: jones ar. Front Cell Neurosci. 2022 Dec 15;16:1050596. doi: 10.3389/fncel.2022.1050596. eCollection 2022. Front Cell Neurosci. 2022. PMID: 36589292 Free PMC article.
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, … See abstract for full author list ➔ van Rheenen W, et al. Among authors: jones ar. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.
Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.
Gaastra B, Shatunov A, Pulit S, Jones AR, Sproviero W, Gillett A, Chen Z, Kirby J, Fogh I, Powell JF, Leigh PN, Morrison KE, Shaw PJ, Shaw CE, van den Berg LH, Veldink JH, Lewis CM, Al-Chalabi A. Gaastra B, et al. Among authors: jones ar. Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct-Nov;17(7-8):593-599. doi: 10.1080/21678421.2016.1213852. Epub 2016 Sep 1. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 27584932 Free PMC article.
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR, Jones AR, Opie-Martin S, Shatunov A, Iacoangeli A, Al Khleifat A, Smith BN, Topp S, Morrison KE, Shaw PJ, Shaw CE, Morgan S, Pittman A, Al-Chalabi A. Mehta PR, et al. Among authors: jones ar. J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):268-271. doi: 10.1136/jnnp-2018-319089. Epub 2018 Sep 30. J Neurol Neurosurg Psychiatry. 2019. PMID: 30270202 Free PMC article.
ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.
Iacoangeli A, Al Khleifat A, Sproviero W, Shatunov A, Jones AR, Opie-Martin S, Naselli E, Topp SD, Fogh I, Hodges A, Dobson RJ, Newhouse SJ, Al-Chalabi A. Iacoangeli A, et al. Among authors: jones ar. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):207-215. doi: 10.1080/21678421.2018.1562553. Epub 2019 Mar 5. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30835568 Free PMC article.
Telomere length is greater in ALS than in controls: a whole genome sequencing study.
Al Khleifat A, Iacoangeli A, Shatunov A, Fang T, Sproviero W, Jones AR, Opie-Martin S, Morrison KE, Shaw PJ, Shaw CE, Powell JF, Dobson R, Newhouse SJ, Al-Chalabi A. Al Khleifat A, et al. Among authors: jones ar. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):229-234. doi: 10.1080/21678421.2019.1586951. Epub 2019 Apr 1. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30931641 Free PMC article.
C9orf72 intermediate expansions of 24-30 repeats are associated with ALS.
Iacoangeli A, Al Khleifat A, Jones AR, Sproviero W, Shatunov A, Opie-Martin S; Alzheimer’s Disease Neuroimaging Initiative; Morrison KE, Shaw PJ, Shaw CE, Fogh I, Dobson RJ, Newhouse SJ, Al-Chalabi A. Iacoangeli A, et al. Among authors: jones ar. Acta Neuropathol Commun. 2019 Jul 17;7(1):115. doi: 10.1186/s40478-019-0724-4. Acta Neuropathol Commun. 2019. PMID: 31315673 Free PMC article.
Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies.
Hop PJ, Zwamborn RAJ, Hannon EJ, Dekker AM, van Eijk KR, Walker EM, Iacoangeli A, Jones AR, Shatunov A, Khleifat AA, Opie-Martin S, Shaw CE, Morrison KE, Shaw PJ, McLaughlin RL, Hardiman O, Al-Chalabi A, Van Den Berg LH, Mill J, Veldink JH. Hop PJ, et al. Among authors: jones ar. NAR Genom Bioinform. 2020 Dec 17;2(4):lqaa105. doi: 10.1093/nargab/lqaa105. eCollection 2020 Dec. NAR Genom Bioinform. 2020. PMID: 33554115 Free PMC article.
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.
Iacoangeli A, Fogh I, Selvackadunco S, Topp SD, Shatunov A, van Rheenen W, Al-Khleifat A, Opie-Martin S, Ratti A, Calvo A; UK Brain Expression Consortium; Van Damme P, Robberecht W, Chio A, Dobson RJ, Hardiman O, Shaw CE, van den Berg LH, Andersen PM, Smith BN, Silani V, Veldink JH, Breen G, Troakes C, Al-Chalabi A, Jones AR. Iacoangeli A, et al. Among authors: jones ar. Brain Commun. 2021 Oct 7;3(4):fcab236. doi: 10.1093/braincomms/fcab236. eCollection 2021. Brain Commun. 2021. PMID: 34708205 Free PMC article.
688 results