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Page 1
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
Alvarez Jerez P, Daida K, Grenn FP, Malik L, Miano-Burkhardt A, Makarious MB, Ding J, Gibbs JR, Moore A, Reed X, Nalls MA, Shah S, Mahmoud M, Sedlazeck FJ, Dolzhenko E, Park M, Iwaki H, Casey B, Ryten M, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. Among authors: ding j. NPJ Parkinsons Dis. 2024 Jul 26;10(1):136. doi: 10.1038/s41531-024-00749-4. NPJ Parkinsons Dis. 2024. PMID: 39060285 Free PMC article.
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. Camargos S, et al. Among authors: ding j. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1. Lancet Neurol. 2008. PMID: 18243799
RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways.
van der Brug MP, Blackinton J, Chandran J, Hao LY, Lal A, Mazan-Mamczarz K, Martindale J, Xie C, Ahmad R, Thomas KJ, Beilina A, Gibbs JR, Ding J, Myers AJ, Zhan M, Cai H, Bonini NM, Gorospe M, Cookson MR. van der Brug MP, et al. Among authors: ding j. Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10244-9. doi: 10.1073/pnas.0708518105. Epub 2008 Jul 14. Proc Natl Acad Sci U S A. 2008. PMID: 18626009 Free PMC article.
SNCA variants are associated with increased risk for multiple system atrophy.
Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. Scholz SW, et al. Among authors: ding j. Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Ann Neurol. 2009. PMID: 19475667 Free PMC article.
Mutational analysis of parkin and PINK1 in multiple system atrophy.
Brooks JA, Houlden H, Melchers A, Islam AJ, Ding J, Li A, Paudel R, Revesz T, Holton JL, Wood N, Lees A, Singleton AB, Scholz SW. Brooks JA, et al. Among authors: ding j. Neurobiol Aging. 2011 Mar;32(3):548.e5-7. doi: 10.1016/j.neurobiolaging.2009.11.020. Epub 2010 Jan 19. Neurobiol Aging. 2011. PMID: 20034704 Free PMC article.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Among authors: ding j. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
Beilina A, Rudenko IN, Kaganovich A, Civiero L, Chau H, Kalia SK, Kalia LV, Lobbestael E, Chia R, Ndukwe K, Ding J, Nalls MA; International Parkinson’s Disease Genomics Consortium; North American Brain Expression Consortium; Olszewski M, Hauser DN, Kumaran R, Lozano AM, Baekelandt V, Greene LE, Taymans JM, Greggio E, Cookson MR. Beilina A, et al. Among authors: ding j. Proc Natl Acad Sci U S A. 2014 Feb 18;111(7):2626-31. doi: 10.1073/pnas.1318306111. Epub 2014 Feb 7. Proc Natl Acad Sci U S A. 2014. PMID: 24510904 Free PMC article.
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J; ARUK Consortium; Morgan K, Powell JF, Kauwe JS, Cruchaga C, Bras J, Goate AM, Singleton AB, Guerreiro R, Hardy J. Sassi C, et al. Among authors: ding j. PLoS One. 2016 Jun 1;11(6):e0150079. doi: 10.1371/journal.pone.0150079. eCollection 2016. PLoS One. 2016. PMID: 27249223 Free PMC article.
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