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Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR; for International Parkinson’s Disease Genomics Consortium (IPDGC). Lubbe SJ, et al. Among authors: hehir j. Hum Mol Genet. 2021 Mar 25;30(1):78-86. doi: 10.1093/hmg/ddaa273. Hum Mol Genet. 2021. PMID: 33448283 Free PMC article.
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX, Malek N, Lawton MA, Hubbard L, Pittman AM, Joseph T, Hehir J, Swallow DMA, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, Bresner C, Foltynie T, Hardy J, Wood N, Ben-Shlomo Y, Grosset DG, Williams NM, Morris HR. Tan MMX, et al. Among authors: hehir j. Brain. 2019 Sep 1;142(9):2828-2844. doi: 10.1093/brain/awz191. Brain. 2019. PMID: 31324919 Free PMC article.
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.
Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H. Kara E, et al. Among authors: hehir j. JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994. JAMA Neurol. 2014. PMID: 25003242 Free PMC article.
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Bandrés-Ciga S, Mencacci NE, Durán R, Barrero FJ, Escamilla-Sevilla F, Morgan S, Hehir J, Vives F, Hardy J, Pittman AM. Bandrés-Ciga S, et al. Among authors: hehir j. Neurobiol Aging. 2016 Jan;37:210.e1-210.e5. doi: 10.1016/j.neurobiolaging.2015.09.020. Epub 2015 Oct 8. Neurobiol Aging. 2016. PMID: 26518746
Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.
Mullin S, Smith L, Lee K, D'Souza G, Woodgate P, Elflein J, Hällqvist J, Toffoli M, Streeter A, Hosking J, Heywood WE, Khengar R, Campbell P, Hehir J, Cable S, Mills K, Zetterberg H, Limousin P, Libri V, Foltynie T, Schapira AHV. Mullin S, et al. Among authors: hehir j. JAMA Neurol. 2020 Apr 1;77(4):427-434. doi: 10.1001/jamaneurol.2019.4611. JAMA Neurol. 2020. PMID: 31930374 Free PMC article. Clinical Trial.
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ. Hensman Moss DJ, et al. Among authors: hehir j. Neurology. 2014 Jan 28;82(4):292-9. doi: 10.1212/WNL.0000000000000061. Epub 2013 Dec 20. Neurology. 2014. PMID: 24363131 Free PMC article.
31 results