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672 results

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Page 1
Asian Cohort for Alzheimer's Disease (ACAD) pilot study on genetic and non-genetic risk factors for Alzheimer's disease among Asian Americans and Canadians.
Ho PC, Yu WH, Tee BL, Lee WP, Li C, Gu Y, Yokoyama JS, Reyes-Dumeyer D, Choi YB, Yang HS, Vardarajan BN, Tzuang M, Lieu K, Lu A, Faber KM, Potter ZD, Revta C, Kirsch M, McCallum J, Mei D, Booth B, Cantwell LB, Chen F, Chou S, Clark D, Deng M, Hong TH, Hwang LJ, Jiang L, Joo Y, Kang Y, Kim ES, Kim H, Kim K, Kuzma AB, Lam E, Lanata SC, Lee K, Li D, Li M, Li X, Liu CL, Liu C, Liu L, Lupo JL, Nguyen K, Pfleuger SE, Qian J, Qian W, Ramirez V, Russ KA, Seo EH, Song YE, Tartaglia MC, Tian L, Torres M, Vo N, Wong EC, Xie Y, Yau EB, Yi I, Yu V, Zeng X, St George-Hyslop P, Au R, Schellenberg GD, Dage JL, Varma R, Hsiung GR, Rosen H, Henderson VW, Foroud T, Kukull WA, Peavy GM, Lee H, Feldman HH, Mayeux R, Chui H, Jun GR, Ta Park VM, Chow TW, Wang LS. Ho PC, et al. Among authors: mei d. Alzheimers Dement. 2024 Mar;20(3):2058-2071. doi: 10.1002/alz.13611. Epub 2024 Jan 12. Alzheimers Dement. 2024. PMID: 38215053 Free PMC article.
Underrepresented and Underserved Populations in Neurological Research.
Windon CC, Jackson AJ, Aguirre GA, Tucker M, Amuiri A, Hill-Jarrett T, Chen M, Pina Escuedro SD, Lieu K, Lopez L, Mei D, Tee BL, Watson CW, Agwu C, Kramer J, Lanata S. Windon CC, et al. Among authors: mei d. Semin Neurol. 2024 Apr;44(2):168-177. doi: 10.1055/s-0044-1782516. Epub 2024 Mar 14. Semin Neurol. 2024. PMID: 38485127
RICTOR variants are associated with neurodevelopmental disorders.
Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, Jiang J, Spinnhirny P, Zimmermann L, Boucher P, Chung CWT, Elserafy N, Blair EM, Li D, Elisabeth B, Kotzaeridou U, Karch S, Wagner M, Lunsing RJ, Pfundt R, Boycott KM, Bruel AL, Mau-Them FT, Moutton S, Conti V, Mei D, Cetica V, Guerrini R, Brunet T, Rump P, Mussa A, Brusco A, Lemire G, de Vries BBA, Miao Z, Isidor B, Bahram S. Carapito R, et al. Among authors: mei d. Eur J Hum Genet. 2024 Dec 30. doi: 10.1038/s41431-024-01774-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39738822
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Sabeh P, et al. Among authors: mei d. Am J Hum Genet. 2025 Jan 2;112(1):75-86. doi: 10.1016/j.ajhg.2024.11.009. Epub 2024 Dec 24. Am J Hum Genet. 2025. PMID: 39721588
Neuropsychological tests at the Italian Centers for Cognitive Disorders and Dementias: results from a survey on 450 specialized services.
Vaccaro R, Lorenzini P, Giaquinto F, Matascioli F, Carnevale G, Sciancalepore F, Gasparini M, Salvi E, Corbo M, Locuratolo N, Vanacore N, Bacigalupo I; Permanent Table of the National Dementia Plan Study Group; CCDDs Study Group. Vaccaro R, et al. Aging Clin Exp Res. 2024 Dec 20;37(1):1. doi: 10.1007/s40520-024-02869-6. Aging Clin Exp Res. 2024. PMID: 39704981 Free PMC article.
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free article.
672 results