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Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
Wu LY, Real R, Martinez-Carrasco A, Chia R, Lawton MA, Shoai M, Bresner C, Blauwendraat C, Singleton AB, Ryten M; International Lewy Body Dementia Genomics Consortium; Scholz SW, Traynor BJ, Williams NM, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR. Wu LY, et al. Among authors: shoai m. Brain Commun. 2024 May 31;6(4):fcae190. doi: 10.1093/braincomms/fcae190. eCollection 2024. Brain Commun. 2024. PMID: 38978726 Free PMC article.
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN; Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ. Johnson JO, et al. Among authors: shoai m. Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30. Nat Neurosci. 2014. PMID: 24686783 Free PMC article.
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Jabbari E, Woodside J, Tan MMX, Shoai M, Pittman A, Ferrari R, Mok KY, Zhang D, Reynolds RH, de Silva R, Grimm MJ, Respondek G, Müller U, Al-Sarraj S, Gentleman SM, Lees AJ, Warner TT, Hardy J, Revesz T, Höglinger GU, Holton JL, Ryten M, Morris HR. Jabbari E, et al. Among authors: shoai m. Ann Neurol. 2018 Oct;84(4):485-496. doi: 10.1002/ana.25308. Epub 2018 Sep 15. Ann Neurol. 2018. PMID: 30066433 Free PMC article.
Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk.
Salih DA, Bayram S, Guelfi S, Reynolds RH, Shoai M, Ryten M, Brenton JW, Zhang D, Matarin M, Botia JA, Shah R, Brookes KJ, Guetta-Baranes T, Morgan K, Bellou E, Cummings DM, Escott-Price V, Hardy J. Salih DA, et al. Among authors: shoai m. Brain Commun. 2019;1(1):fcz022. doi: 10.1093/braincomms/fcz022. Epub 2019 Oct 10. Brain Commun. 2019. PMID: 32274467 Free PMC article.
Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease.
Tan MMX, Lawton MA, Jabbari E, Reynolds RH, Iwaki H, Blauwendraat C, Kanavou S, Pollard MI, Hubbard L, Malek N, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, Bresner C, Foltynie T, Wood NW, Williams-Gray CH, Hardy J, Nalls MA, Singleton AB, Williams NM, Ben-Shlomo Y, Hu MTM, Grosset DG, Shoai M, Morris HR. Tan MMX, et al. Among authors: shoai m. Mov Disord. 2021 Feb;36(2):424-433. doi: 10.1002/mds.28342. Epub 2020 Oct 28. Mov Disord. 2021. PMID: 33111402 Free PMC article.
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