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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.
Rizig M, Bandres-Ciga S, Makarious MB, Ojo OO, Crea PW, Abiodun OV, Levine KS, Abubakar SA, Achoru CO, Vitale D, Adeniji OA, Agabi OP, Koretsky MJ, Agulanna U, Hall DA, Akinyemi RO, Xie T, Ali MW, Shamim EA, Ani-Osheku I, Padmanaban M, Arigbodi OM, Standaert DG, Bello AH, Dean MN, Erameh CO, Elsayed I, Farombi TH, Okunoye O, Fawale MB, Billingsley KJ, Imarhiagbe FA, Jerez PA, Iwuozo EU, Baker B, Komolafe MA, Malik L, Nwani PO, Daida K, Nwazor EO, Miano-Burkhardt A, Nyandaiti YW, Fang ZH, Obiabo YO, Kluss JH, Odeniyi OA, Hernandez DG, Odiase FE, Tayebi N, Ojini FI, Sidranksy E, Onwuegbuzie GA, D'Souza AM, Osaigbovo GO, Berhe B, Osemwegie N, Reed X, Oshinaike OO, Leonard HL, Otubogun FM, Alvarado CX, Oyakhire SI, Ozomma SI, Samuel SC, Taiwo FT, Wahab KW, Zubair YA, Iwaki H, Kim JJ, Morris HR, Hardy J, Nalls MA, Heilbron K, Norcliffe-Kaufmann L; Nigeria Parkinson Disease Research Network; International Parkinson's Disease Genomics Consortium Africa; Black and African American Connections to Parkinson's Disease Study Group; 23andMe Research Team; Blauwendraat C, Houlden H, Singleton A, Okubadejo NU; Global Parkinson's Genetics Program. Rizig M, et al. Among authors: nwazor eo. Lancet Neurol. 2023 Nov;22(11):1015-1025. doi: 10.1016/S1474-4422(23)00283-1. Epub 2023 Aug 23. Lancet Neurol. 2023. PMID: 37633302 Free PMC article.
Global Impact of the COVID-19 Pandemic on Stroke Volumes and Cerebrovascular Events: A 1-Year Follow-up.
Nguyen TN, Qureshi MM, Klein P, Yamagami H, Mikulik R, Czlonkowska A, Abdalkader M, Sedova P, Sathya A, Lo HC, Mansour OY, Vanguru HR, Lesaine E, Tsivgoulis G, Loochtan AI, Demeestere J, Uchino K, Inoa V, Goyal N, Charidimou A, Siegler JE, Yaghi S, Aguiar de Sousa D, Mohammaden MH, Haussen DC, Kristoffersen ES, Lereis VP, Scollo SD, Campbell BCV, Ma A, Thomas JO, Parsons MW, Singhal S, Slater LA, Tomazini Martins R, Enzinger C, Gattringer T, Rahman A, Bonnet T, Ligot N, De Raedt S, Lemmens R, Vanacker P, Vandervorst F, Conforto AB, Hidalgo RCT, de Oliveira Neves L, Martins RT, Mora Cuervo DL, Rebello LC, Santiago IB, Lameirinhas da Silva I, Sakelarova T, Kalpachki R, Alexiev F, Catanese L, Cora EA, Goyal M, Hill MD, Kelly ME, Khosravani H, Lavoie P, Peeling L, Pikula A, Rivera R, Chen HS, Chen Y, Huo X, Miao Z, Yang S, Bedekovic MR, Bralic M, Budincevic H, Corredor-Quintero AB, Lara-Sarabia OE, Cabal M, Tenora D, Fibrich P, Herzig R, Hlaváčová H, Hrabanovska E, Hlinovsky D, Jurak L, Kadlcikova J, Karpowicz I, Klecka L, Kovar M, Lauer D, Neumann J, Palouskova H, Reiser M, Rekova P, Rohan V, Skoda O, Škorňa M, Sobotková L, Sramek M, Zakova L, Christensen H, Drenck N, Iversen HK, Tru… See abstract for full author list ➔ Nguyen TN, et al. Among authors: nwazor eo. Neurology. 2023 Jan 24;100(4):e408-e421. doi: 10.1212/WNL.0000000000201426. Epub 2022 Oct 18. Neurology. 2023. PMID: 36257718 Free PMC article.
Global Impact of COVID-19 on Stroke Care and IV Thrombolysis.
Nogueira RG, Qureshi MM, Abdalkader M, Martins SO, Yamagami H, Qiu Z, Mansour OY, Sathya A, Czlonkowska A, Tsivgoulis G, Aguiar de Sousa D, Demeestere J, Mikulik R, Vanacker P, Siegler JE, Kõrv J, Biller J, Liang CW, Sangha NS, Zha AM, Czap AL, Holmstedt CA, Turan TN, Ntaios G, Malhotra K, Tayal A, Loochtan A, Ranta A, Mistry EA, Alexandrov AW, Huang DY, Yaghi S, Raz E, Sheth SA, Mohammaden MH, Frankel M, Bila Lamou EG, Aref HM, Elbassiouny A, Hassan F, Menecie T, Mustafa W, Shokri HM, Roushdy T, Sarfo FS, Alabi TO, Arabambi B, Nwazor EO, Sunmonu TA, Wahab K, Yaria J, Mohammed HH, Adebayo PB, Riahi AD, Sassi SB, Gwaunza L, Ngwende GW, Sahakyan D, Rahman A, Ai Z, Bai F, Duan Z, Hao Y, Huang W, Li G, Li W, Liu G, Luo J, Shang X, Sui Y, Tian L, Wen H, Wu B, Yan Y, Yuan Z, Zhang H, Zhang J, Zhao W, Zi W, Leung TW, Chugh C, Huded V, Menon B, Pandian JD, Sylaja PN, Usman FS, Farhoudi M, Hokmabadi ES, Horev A, Reznik A, Sivan Hoffmann R, Ohara N, Sakai N, Watanabe D, Yamamoto R, Doijiri R, Tokuda N, Yamada T, Terasaki T, Yazawa Y, Uwatoko T, Dembo T, Shimizu H, Sugiura Y, Miyashita F, Fukuda H, Miyake K, Shimbo J, Sugimura Y, Yagita Y, Takenobu Y, Matsumaru Y, Yamada S, Kono R, Ka… See abstract for full author list ➔ Nogueira RG, et al. Among authors: nwazor eo. Neurology. 2021 Jun 8;96(23):e2824-e2838. doi: 10.1212/WNL.0000000000011885. Epub 2021 Mar 25. Neurology. 2021. PMID: 33766997 Free PMC article.
SLK is mutated in individuals with a neurodevelopmental disorder.
Alabdi L, Altuwaijri N, Zhu JY, Efthymiou S, Lee H, Duan J, Salem I, Yu P, Abdullah NL, Alzahrani F, Xu Q, Felemban MM, Alfaifi A, Rahman F, Christoforou M, Maqbool S, Martinez-Agosto JA, Alsaif HS, Hashem M, Helaby R, Alsulaiman A; SYNaPS Study Group; Queen Square Genomics; Maroofian R, Houlden H, Arold ST, Ibrahim LA, Han Z, Alkuraya FS. Alabdi L, et al. EBioMedicine. 2025 Jun;116:105725. doi: 10.1016/j.ebiom.2025.105725. Epub 2025 May 9. EBioMedicine. 2025. PMID: 40347834 Free PMC article.
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Akçimen F, Paquette K, Crea PW, Saffie-Awad P, Achoru C, Taiwo F, Ozomma S, Onwuegbuzie G, Khani M, Grant S, Owolabi L, Okereke C, Oshinaike O, Iwuozo E, Lee PS, Oyakhire S, Osemwegie N, Daida K, Abubakar S, Olusanya A, Isayan M, Traurig R, Ogunmodede A, Samuel S, Makarious MB, Sa'ad F, Olanigan R, Levine K, Ogbimi EM, Vitale D, Odiase F, Koretsky MJ, Ojini F, Odeniyi O, Fang ZH, Obianozie N, Hall DA, Nwazor E, Xie T, Nwaokorie F, Padmanaban M, Nwani P, Shamim EA, Nnama A, Standaert D, Komolafe M, Dean M, Osaigbovo G, Disbrow E, Ishola I, Rawls A, Imarhiagbe F, Chandra S, Erameh C, Hinson V, Louie N, Idowu A, Solle J, Norris SA, Ibrahim A, Kilbane C, Sukumar G, Shulman LM, Ezuduemoih D, Staisch J, Breaux S, Dalgard C, Foster ER, Bello A, Ameri A, Real R, Ikwenu E, Morris HR, Anyanwu R, Stimming EF, Billingsley K, Alaofin W, Jerez PA, Agabi O, Hernandez DG, Akinyemi R, Arepalli S, Malik L, Owolabi R, Nyandaiti Y, Leonard HL, Wahab K, Step K, Abiodun O, Hernandez CF, Abdulai F, Iwaki H, Bardien S, Klein C, Hardy J, Houlden H, Galvelis KG, Nalls MA, Dahodwala N, Aamodt W, Hill E, Espay A, Factor S, Branson C, Blauwendraat C, Singleton AB, Ojo O, Chahine LM; Black and African A… See abstract for full author list ➔ Akçimen F, et al. Among authors: nwazor e. medRxiv [Preprint]. 2025 Jan 20:2025.01.14.25320205. doi: 10.1101/2025.01.14.25320205. medRxiv. 2025. PMID: 39867380 Free PMC article. Preprint.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
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. Chelban V, et al. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
MAPT allele and haplotype frequencies in Nigerian Africans: Population distribution and association with Parkinson's disease risk and age at onset.
Okunoye O, Ojo OO, Abiodun O, Abubakar S, Achoru C, Adeniji O, Agabi O, Agulanna U, Akinyemi R, Ali M, Ani-Osheku I, Arigbodi O, Bello A, Erameh C, Farombi T, Fawale M, Imarhiagbe F, Iwuozo E, Komolafe M, Nwani P, Nwazor E, Nyandaiti Y, Obiabo Y, Odeniyi O, Odiase F, Ojini F, Onwuegbuzie G, Osaigbovo G, Osemwegie N, Oshinaike O, Otubogun F, Oyakhire S, Ozomma S, Samuel S, Taiwo F, Wahab K, Zubair Y, Hernandez D, Bandres-Ciga S, Blauwendraat C, Singleton A, Houlden H, Hardy J, Rizig M, Okubadejo N. Okunoye O, et al. Among authors: nwazor e. Parkinsonism Relat Disord. 2023 Aug;113:105517. doi: 10.1016/j.parkreldis.2023.105517. Epub 2023 Jul 14. Parkinsonism Relat Disord. 2023. PMID: 37467655
25 results