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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium; Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simón-Sánchez J, Nalls MA, Singleton AB, Scholz SW. Blauwendraat C, et al. Among authors: may p. Neurobiol Aging. 2017 Sep;57:247.e9-247.e13. doi: 10.1016/j.neurobiolaging.2017.05.009. Epub 2017 May 17. Neurobiol Aging. 2017. PMID: 28602509 Free PMC article.
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors.
Liu H, Dehestani M, Blauwendraat C, Makarious MB, Leonard H, Kim JJ, Schulte C, Noyce A, Jacobs BM, Foote I, Sharma M; International Parkinson's Disease Genomics Consortium; Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease Consortium; Nalls M, Singleton A, Gasser T, Bandres-Ciga S. Liu H, et al. Ann Neurol. 2022 Aug;92(2):270-278. doi: 10.1002/ana.26416. Epub 2022 Jun 24. Ann Neurol. 2022. PMID: 35599344 Free PMC article.
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.
Fitzgerald JC, Zimprich A, Carvajal Berrio DA, Schindler KM, Maurer B, Schulte C, Bus C, Hauser AK, Kübler M, Lewin R, Bobbili DR, Schwarz LM, Vartholomaiou E, Brockmann K, Wüst R, Madlung J, Nordheim A, Riess O, Martins LM, Glaab E, May P, Schenke-Layland K, Picard D, Sharma M, Gasser T, Krüger R. Fitzgerald JC, et al. Among authors: may p. Brain. 2017 Sep 1;140(9):2444-2459. doi: 10.1093/brain/awx202. Brain. 2017. PMID: 29050400
Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study.
Weiss D, Landoulsi Z, May P, Sharma M, Schüpbach M, You H, Corvol JC, Paschen S, Helmers AK, Barbe M, Fink G, Kühn AA, Courbon CB, Wojtecki L, Damier P, Fraix V, Houeto JL, Regis J, Sixel-Döring F, Pinsker MO, Thobois S, Gharabaghi A, Stoker V, Timmermann L, Schnitzler A, Krack P, Vidailhet M, Deuschl G, Krüger R. Weiss D, et al. Among authors: may p. Parkinsonism Relat Disord. 2022 Oct;103:169-174. doi: 10.1016/j.parkreldis.2022.08.025. Epub 2022 Sep 8. Parkinsonism Relat Disord. 2022. PMID: 36117018
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
Identification of pathogenic variant enriched regions across genes and gene families.
Pérez-Palma E, May P, Iqbal S, Niestroj LM, Du J, Heyne HO, Castrillon JA, O'Donnell-Luria A, Nürnberg P, Palotie A, Daly M, Lal D. Pérez-Palma E, et al. Among authors: may p. Genome Res. 2020 Jan;30(1):62-71. doi: 10.1101/gr.252601.119. Epub 2019 Dec 23. Genome Res. 2020. PMID: 31871067 Free PMC article.
Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease.
Krishna A, Biryukov M, Trefois C, Antony PM, Hussong R, Lin J, Heinäniemi M, Glusman G, Köglsberger S, Boyd O, van den Berg BH, Linke D, Huang D, Wang K, Hood L, Tholey A, Schneider R, Galas DJ, Balling R, May P. Krishna A, et al. Among authors: may p. BMC Genomics. 2014 Dec 20;15(1):1154. doi: 10.1186/1471-2164-15-1154. BMC Genomics. 2014. PMID: 25528190 Free PMC article.
1,476 results