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Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
Al Khleifat A, Iacoangeli A, van Vugt JJFA, Bowles H, Moisse M, Zwamborn RAJ, van der Spek RAA, Shatunov A, Cooper-Knock J, Topp S, Byrne R, Gellera C, López V, Jones AR, Opie-Martin S, Vural A, Campos Y, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, 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: hardiman o. NPJ Genom Med. 2022 Jan 28;7(1):8. doi: 10.1038/s41525-021-00267-9. NPJ Genom Med. 2022. PMID: 35091648 Free PMC article.
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O. Greenway MJ, et al. Among authors: hardiman o. Nat Genet. 2006 Apr;38(4):411-3. doi: 10.1038/ng1742. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501576
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM; MRC Proteomics in ALS Study; FReJA Consortium. Parkinson N, et al. Among authors: hardiman o. Neurology. 2006 Sep 26;67(6):1074-7. doi: 10.1212/01.wnl.0000231510.89311.8b. Epub 2006 Jun 28. Neurology. 2006. PMID: 16807408
The management of amyotrophic lateral sclerosis.
Phukan J, Hardiman O. Phukan J, et al. Among authors: hardiman o. J Neurol. 2009 Feb;256(2):176-86. doi: 10.1007/s00415-009-0142-9. Epub 2009 Feb 17. J Neurol. 2009. PMID: 19224316 Review.
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.
Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, Van den Berg LH, Figlewicz DA, Andersen PM, Al-Chalabi A, Hardiman O, Purcell S, Landers JE, Brown RH Jr. Wills AM, et al. Among authors: hardiman o. Neurology. 2009 Jul 7;73(1):16-24. doi: 10.1212/WNL.0b013e3181a18674. Epub 2009 Mar 25. Neurology. 2009. PMID: 19321847 Free PMC article.
490 results