Professor Nicholas Wood

2018
Malek N, Weil RS, Bresner C, Lawton MA, Grosset KA, Tan M, Bajaj N, Barker RA, Burn DJ, Foltynie T, Hardy J, Wood NW, Ben-Shlomo Y, Williams NW, Grosset DG, Morris HR; PRoBaND clinical consortium. Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study. J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):702-709. doi: 10.1136/jnnp-2017-317348. PMID:29378790

Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. PMID:29398121

Lynch DS, Chelban V, Vandrovcova J, Pittman A, Wood NW, Houlden H. GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. Ann Clin Transl Neurol. 2018 Jan 22;5(2):216-221. doi: 10.1002/acn3.522. PMID:29468182

O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW. Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. J Neurol Neurosurg Psychiatry. 2018 Feb 22. pii: jnnp-2017-317581. doi: 10.1136/jnnp-2017-317581. PMID: 29472272

Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H. Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. PMID:29603387

Wagnon JL, Mencacci NE, Barker BS, Wengert ER, Bhatia KP, Balint B, Carecchio M, Wood NW, Patel MK, Meisler MH. Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Hum Mutat. 2018 Jul;39(7):965-969. doi: 10.1002/humu.23547. PMID: 29726066

Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease. Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11 Neurology. 2018 Jun 5;90(23):e2059-e2067. doi: 10.1212/WNL.0000000000005660. PMID:29752303

Ferrari R, Kia DA, Tomkins JE, Hardy J, Wood NW, Lovering RC, Lewis PA, Manzoni C. Stratification of candidate genes for Parkinson's disease using weighted protein-protein interaction network analysis. BMC Genomics. 2018 Jun 13;19(1):452. doi: 10.1186/s12864-018-4804-9. PMID: 29898659

Brainstorm Consortium, Anttila V, ... Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM, Schott JM, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg HJ, Murray R. Analysis of shared heritability in common disorders of the brain. Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757. PMID: 29930110

Yau WY, O'Connor E, Sullivan R, Akijian L, Wood NW. DNA repair in trinucleotide repeat ataxias. FEBS J. 2018 Oct;285(19):3669-3682. doi: 10.1111/febs.14644. Epub 2018 Sep 10. Review. PMID:30152109

Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA Neurol. 2018 Jul 23. doi: 10.1001/jamaneurol.2018.1885. [Epub ahead of print] PMID:30039155

Kia DA, Noyce AJ, White J, Speed D, Nicolas A; IPDGC collaborators, Burgess S, Lawlor DA, Davey Smith G, Singleton A, Nalls MA, Sofat R, Wood NW. Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease. Ann Neurol. 2018 Aug;84(2):191-199. doi: 10.1002/ana.25294.PMID:30014513

Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P. Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018. PMID: 30532692 Free PMC Article

Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S; International Parkinson's Disease Genomics Consortium. LRP10 in ?-synucleinopathies. Lancet Neurol. 2018 Dec;17(12):1032. doi: 10.1016/S1474-4422(18)30401-0. Epub 2018 Nov 13. No abstract available. PMID: 30507383

Lawton M, Ben-Shlomo Y, May MT, Baig F, Barber TR, Klein JC, Swallow DMA, Malek N, Grosset KA, Bajaj N, Barker RA, Williams N, Burn DJ, Foltynie T, Morris HR, Wood NW, Grosset DG, Hu MTM. Developing and validating Parkinson's disease subtypes and their motor and cognitive progression. J Neurol Neurosurg Psychiatry. 2018 Dec;89(12):1279-1287. doi: 10.1136/jnnp-2018-318337. Epub 2018 Jul 25. PMID: 30464029

2019
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB; 23andMe Research Team; System Genomics of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 2019 Dec;18(12):1091-1102. doi: 10.1016/S1474-4422(19)30320-5. PMID: 31701892

Noyce AJ, Bandres-Ciga S, Kim J, Heilbron K, Kia D, Hemani G, Xue A, Lawlor DA, Smith GD, Duran R, Gan-Or Z, Blauwendraat C, Gibbs JR; 23andMe Research Team5, International Parkinson's Disease Genomics Consortium (IPDGC), Hinds DA, Yang J, Visscher P, Cuzick J, Morris H, Hardy J, Wood NW, Nalls MA, Singleton AB. The Parkinson's Disease Mendelian Randomization Research Portal. Mov Disord. 2019 Dec;34(12):1864-1872. doi: 10.1002/mds.27873. PMID: 31659794

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. PMID: 31187503 Free PMC article.

Balint B, Charlesworth G, Erro R, Wood NW, Bhatia KP. Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia! Mov Disord. 2019 Apr;34(4):589-592. doi: 10.1002/mds.27638. PMID: 30991467

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. PMID: 30926972

Balint B, Charlesworth G, Stamelou M, Carr L, Mencacci NE, Wood NW, Bhatia KP. Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. Eur J Neurol. 2019 Sep;26(9):1240-1243. doi: 10.1111/ene.13956. PMID: 30897263


2020
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. PMID: 31509304

Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z; International Parkinson's Disease Genomic Consortium (IPDGC). Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease. J Med Genet. 2020 May;57(5):331-338. doi: 10.1136/jmedgenet-2019-106283. PMID: 31784483

Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S, Ibáñez K, Sullivan R, Bibi F, Athanasiou-Fragkouli A, Bourinaris T, Zhang D, Revesz T, Lashley T, DeTure M, Dickson DW, Josephs KA, Gelpi E, Kovacs GG, Halliday G, Rowe DB, Blair I, Tienari PJ, Suomalainen A, Fox NC, Wood NW, Lees AJ, Haltia MJ; Genomics England Research Consortium, Hardy J, Ryten M, Vandrovcova J, Houlden H. Neuronal intranuclear inclusion disease is genetically heterogeneous. Ann Clin Transl Neurol. 2020 Aug 10. doi: 10.1002/acn3.51151. PMID: 32777174

Herbst S, Campbell P, Harvey J, Bernard EM, Papayannopoulos V, Wood NW, Morris HR, Gutierrez MG. LRRK2 activation controls the repair of damaged endomembranes in macrophages. EMBO J. 2020 Jul 9:e104494. doi: 10.15252/embj.2020104494. PMID: 32643832

Chelban V, Carecchio M, Rea G, Bowirrat A, Kirmani S, Magistrelli L, Efthymiou S, Schottlaender L, Vandrovcova J, Salpietro V, Salsano E, Pareyson D, Chiapparini L, Jan F, Ibrahim S, Khan F, Qarnain Z, Groppa S, Bajaj N, Balint B, Bhatia KP, Lees A, Morrison PJ, Wood NW, Garavaglia B, Houlden H. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism. Neurol Genet. 2020 Feb 20;6(2):e399. doi: 10.1212/NXG.0000000000000399. PMID: 32211515

Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.PMID: 32040566

Tan GC, Chu C, Lee YT, Tan CCK, Ashburner J, Wood NW, Frackowiak RS. The influence of microsatellite polymorphisms in sex steroid receptor genes ESR1, ESR2 and AR on sex differences in brain structure. Neuroimage. 2020 Jun 25;221:117087. doi: 10.1016/j.neuroimage.2020.117087. PMID: 32593802

Iwaki H, Blauwendraat C, Makarious MB, Bandrés-Ciga S, Leonard HL, Gibbs JR, Hernandez DG, Scholz SW, Faghri F; International Parkinson's Disease Genomics Consortium (IPDGC), Nalls MA, Singleton AB. Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score. Mov Disord. 2020 May;35(5):774-780. doi: 10.1002/mds.27974. PMID: 31958187