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CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium; Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. Galizia EC, et al. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
Data-driven historical characterization of epilepsy-associated genes.
Macnee M, Pérez-Palma E, López-Rivera JA, Ivaniuk A, May P, Møller RS, Lal D. Macnee M, et al. Among authors: may p. Eur J Paediatr Neurol. 2023 Jan;42:82-87. doi: 10.1016/j.ejpn.2022.12.005. Epub 2022 Dec 14. Eur J Paediatr Neurol. 2023. PMID: 36586220 Free article. Review.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eken A, Gu… See abstract for full author list ➔ Chen S, et al. Among authors: may p. medRxiv [Preprint]. 2024 Sep 20:2023.02.22.23286310. doi: 10.1101/2023.02.22.23286310. medRxiv. 2024. Update in: Nat Neurosci. 2024 Oct;27(10):1864-1879. doi: 10.1038/s41593-024-01747-8. PMID: 36865150 Free PMC article. Updated. Preprint.
Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease.
Arena G, Landoulsi Z, Grossmann D, Payne T, Vitali A, Delcambre S, Baron A, Antony P, Boussaad I, Bobbili DR, Sreelatha AAK, Pavelka L, J Diederich N, Klein C, Seibler P, Glaab E, Foltynie T, Bandmann O, Sharma M, Krüger R, May P, Grünewald A; NCER‐PD and COURAGE‐PD Consortia. Arena G, et al. Among authors: may p. Ann Neurol. 2024 Jul;96(1):133-149. doi: 10.1002/ana.26949. Epub 2024 May 20. Ann Neurol. 2024. PMID: 38767023
We hypothesized that a fraction of iPD patients may harbor a combination of common variants in nuclear-encoded mitochondrial genes ultimately resulting in neurodegeneration. ...RESULTS: Common variants in genes regulating Oxidative Phosphorylation (OXPHOS-PRS) were signifi …
We hypothesized that a fraction of iPD patients may harbor a combination of common variants in nuclear-encoded mitochondrial genes ul …
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: may p. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
Genetic landscape of Parkinson's disease and related diseases in Luxembourg.
Landoulsi Z, Pachchek S, Bobbili DR, Pavelka L, May P, Krüger R; NCER-PD Consortium. Landoulsi Z, et al. Among authors: may p. Front Aging Neurosci. 2023 Dec 20;15:1282174. doi: 10.3389/fnagi.2023.1282174. eCollection 2023. Front Aging Neurosci. 2023. PMID: 38173558 Free PMC article.
1,513 results