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Page 1
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.
Towns C, Fang ZH, Tan MMX, Jasaityte S, Schmaderer TM, Stafford EJ, Pollard M, Tilney R, Hodgson M, Wu L, Labrum R, Hehir J, Polke J, Lange LM, Schapira AHV, Bhatia KP; Parkinson’s Families Project (PFP) Study Group; Global Parkinson’s Genetics Program (GP2); Singleton AB, Blauwendraat C, Klein C, Houlden H, Wood NW, Jarman PR, Morris HR, Real R. Towns C, et al. Among authors: wood nw. NPJ Parkinsons Dis. 2024 Oct 17;10(1):188. doi: 10.1038/s41531-024-00778-z. NPJ Parkinsons Dis. 2024. PMID: 39420034 Free PMC article.
Repeat expansion disorders.
Chen Z, Morris HR, Polke J, Wood NW, Gandhi S, Ryten M, Houlden H, Tucci A. Chen Z, et al. Among authors: wood nw. Pract Neurol. 2024 Sep 30:pn-2023-003938. doi: 10.1136/pn-2023-003938. Online ahead of print. Pract Neurol. 2024. PMID: 39349043 Free article.
Utilising accessible and reproducible neurological assessments in clinical studies: Insights from use of the Neurological Impairment Scale in the multi-centre COVID-CNS study.
Alam AM, Webb GW, Collie C, Mariathasan S, Huang Y, Hilton O, Shil R, Dodd KC, Lilleker JB, Smith CJ, Easton A, Tamborska A, Thomas RH, Davies NWS, Jenkins TM, Zandi M, Benjamin L, Ellul MA, Solomon T, Pollak TA, Nicholson T, Breen G, van Wamelen DJ, Wood NW, Michael BD; (on Behalf of the COVID-CNS Group). Alam AM, et al. Among authors: wood nw. Clin Med (Lond). 2024 Sep;24(5):100241. doi: 10.1016/j.clinme.2024.100241. Epub 2024 Sep 6. Clin Med (Lond). 2024. PMID: 39244036 Free PMC article.
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH, Evans JR, Chen Z, Grant-Peters M, Macpherson H, Montgomery K, Dore R, Wernick AI, Arber C, Wray S, Gandhi S, Esselborn J, Blauwendraat C, Douse CH, Adami A, Atacho DAM, Kouli A, Quaegebeur A, Barker RA, Englund E, Platt F, Jakobsson J, Wood NW, Houlden H, Saini H, Bento CF, Hardy J, Ryten M. Gustavsson EK, et al. Among authors: wood nw. Sci Adv. 2024 Jun 28;10(26):eadk1296. doi: 10.1126/sciadv.adk1296. Epub 2024 Jun 26. Sci Adv. 2024. PMID: 38924406 Free PMC article.
Genome-wide determinants of mortality and motor progression in Parkinson's disease.
Tan MMX, Lawton MA, Pollard MI, Brown E, Real R, Carrasco AM, Bekadar S, Jabbari E, Reynolds RH, Iwaki H, Blauwendraat C, Kanavou S, Hubbard L, Malek N, Grosset KA, Bajaj N, Barker RA, Burn DJ, Bresner C, Foltynie T, Wood NW, Williams-Gray CH, Andreassen OA, Toft M, Elbaz A, Artaud F, Brice A, Corvol JC, Aasly J, Farrer MJ, Nalls MA, Singleton AB, Williams NM, Ben-Shlomo Y, Hardy J, Hu MTM, Grosset DG, Shoai M, Pihlstrøm L, Morris HR. Tan MMX, et al. Among authors: wood nw. NPJ Parkinsons Dis. 2024 Jun 7;10(1):113. doi: 10.1038/s41531-024-00729-8. NPJ Parkinsons Dis. 2024. PMID: 38849413 Free PMC article.
RASP: Optimal Single Puncta Detection in Complex Cellular Backgrounds.
Fu B, Brock EE, Andrews R, Breiter JC, Tian R, Toomey CE, Lachica J, Lashley T, Ryten M, Wood NW, Vendruscolo M, Gandhi S, Weiss LE, Beckwith JS, Lee SF. Fu B, et al. Among authors: wood nw. J Phys Chem B. 2024 Apr 18;128(15):3585-3597. doi: 10.1021/acs.jpcb.4c00174. Epub 2024 Apr 9. J Phys Chem B. 2024. PMID: 38593280 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: wood nw. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: wood nw. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 Free article. No abstract available.
534 results