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Genetics and Pathogenesis of Parkinson's Syndrome.
Ye H, Robak LA, Yu M, Cykowski M, Shulman JM. Ye H, et al. Annu Rev Pathol. 2023 Jan 24;18:95-121. doi: 10.1146/annurev-pathmechdis-031521-034145. Epub 2022 Sep 13. Annu Rev Pathol. 2023. PMID: 36100231 Free PMC article. Review.
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous, resisting distillation to a single, cohesive disorder. Instead, each affected individual develops a virtually unique form of Parkinson's syndrome. Clinical manifestations consist …
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous, resisting distillation to a single, cohesive d …
Empagliflozin in Heart Failure with a Preserved Ejection Fraction.
Anker SD, Butler J, Filippatos G, Ferreira JP, Bocchi E, Böhm M, Brunner-La Rocca HP, Choi DJ, Chopra V, Chuquiure-Valenzuela E, Giannetti N, Gomez-Mesa JE, Janssens S, Januzzi JL, Gonzalez-Juanatey JR, Merkely B, Nicholls SJ, Perrone SV, Piña IL, Ponikowski P, Senni M, Sim D, Spinar J, Squire I, Taddei S, Tsutsui H, Verma S, Vinereanu D, Zhang J, Carson P, Lam CSP, Marx N, Zeller C, Sattar N, Jamal W, Schnaidt S, Schnee JM, Brueckmann M, Pocock SJ, Zannad F, Packer M; EMPEROR-Preserved Trial Investigators. Anker SD, et al. N Engl J Med. 2021 Oct 14;385(16):1451-1461. doi: 10.1056/NEJMoa2107038. Epub 2021 Aug 27. N Engl J Med. 2021. PMID: 34449189 Clinical Trial.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
The repertoire of mutational signatures in human cancer.
Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Tian Ng AW, Wu Y, Boot A, Covington KR, Gordenin DA, Bergstrom EN, Islam SMA, Lopez-Bigas N, Klimczak LJ, McPherson JR, Morganella S, Sabarinathan R, Wheeler DA, Mustonen V; PCAWG Mutational Signatures Working Group; Getz G, Rozen SG, Stratton MR; PCAWG Consortium. Alexandrov LB, et al. Nature. 2020 Feb;578(7793):94-101. doi: 10.1038/s41586-020-1943-3. Epub 2020 Feb 5. Nature. 2020. PMID: 32025018 Free PMC article.
Conflict of Interest Disclosures.
[No authors listed] [No authors listed] Global Spine J. 2023 May;13(2_suppl):568S-591S. doi: 10.1177/21925682231173597. Global Spine J. 2023. PMID: 37222100 Free PMC article. No abstract available.
Trial of Thrombectomy 6 to 24 Hours after Stroke Due to Basilar-Artery Occlusion.
Jovin TG, Li C, Wu L, Wu C, Chen J, Jiang C, Shi Z, Gao Z, Song C, Chen W, Peng Y, Yao C, Wei M, Li T, Wei L, Xiao G, Yang H, Ren M, Duan J, Liu X, Yang Q, Liu Y, Zhu Q, Shi W, Zhu Q, Li X, Guo Z, Yang Q, Hou C, Zhao W, Ma Q, Zhang Y, Jiao L, Zhang H, Liebeskind DS, Liang H, Jadhav AP, Wen C, Brown S, Zhu L, Ye H, Ribo M, Chang M, Song H, Chen J, Ji X; BAOCHE Investigators. Jovin TG, et al. N Engl J Med. 2022 Oct 13;387(15):1373-1384. doi: 10.1056/NEJMoa2207576. N Engl J Med. 2022. PMID: 36239645 Clinical Trial.
Molecular mechanisms of snoRNA-IL-15 crosstalk in adipocyte lipolysis and NK cell rejuvenation.
Zhang Y, Zhao Z, Huang LA, Liu Y, Yao J, Sun C, Li Y, Zhang Z, Ye Y, Yuan F, Nguyen TK, Garlapati NR, Wu A, Egranov SD, Caudle AS, Sahin AA, Lim B, Beretta L, Calin GA, Yu D, Hung MC, Curran MA, Rezvani K, Gan B, Tan Z, Han L, Lin C, Yang L. Zhang Y, et al. Cell Metab. 2023 Aug 8;35(8):1457-1473.e13. doi: 10.1016/j.cmet.2023.05.009. Epub 2023 Jun 16. Cell Metab. 2023. PMID: 37329887 Free article.
Integrative analysis of 111 reference human epigenomes.
Roadmap Epigenomics Consortium; Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A, Heravi-Moussavi A, Kheradpour P, Zhang Z, Wang J, Ziller MJ, Amin V, Whitaker JW, Schultz MD, Ward LD, Sarkar A, Quon G, Sandstrom RS, Eaton ML, Wu YC, Pfenning AR, Wang X, Claussnitzer M, Liu Y, Coarfa C, Harris RA, Shoresh N, Epstein CB, Gjoneska E, Leung D, Xie W, Hawkins RD, Lister R, Hong C, Gascard P, Mungall AJ, Moore R, Chuah E, Tam A, Canfield TK, Hansen RS, Kaul R, Sabo PJ, Bansal MS, Carles A, Dixon JR, Farh KH, Feizi S, Karlic R, Kim AR, Kulkarni A, Li D, Lowdon R, Elliott G, Mercer TR, Neph SJ, Onuchic V, Polak P, Rajagopal N, Ray P, Sallari RC, Siebenthall KT, Sinnott-Armstrong NA, Stevens M, Thurman RE, Wu J, Zhang B, Zhou X, Beaudet AE, Boyer LA, De Jager PL, Farnham PJ, Fisher SJ, Haussler D, Jones SJ, Li W, Marra MA, McManus MT, Sunyaev S, Thomson JA, Tlsty TD, Tsai LH, Wang W, Waterland RA, Zhang MQ, Chadwick LH, Bernstein BE, Costello JF, Ecker JR, Hirst M, Meissner A, Milosavljevic A, Ren B, Stamatoyannopoulos JA, Wang T, Kellis M. Roadmap Epigenomics Consortium, et al. Nature. 2015 Feb 19;518(7539):317-30. doi: 10.1038/nature14248. Nature. 2015. PMID: 25693563 Free PMC article.
Comprehensive molecular characterization of mitochondrial genomes in human cancers.
Yuan Y, Ju YS, Kim Y, Li J, Wang Y, Yoon CJ, Yang Y, Martincorena I, Creighton CJ, Weinstein JN, Xu Y, Han L, Kim HL, Nakagawa H, Park K, Campbell PJ, Liang H; PCAWG Consortium. Yuan Y, et al. Nat Genet. 2020 Mar;52(3):342-352. doi: 10.1038/s41588-019-0557-x. Epub 2020 Feb 5. Nat Genet. 2020. PMID: 32024997 Free PMC article.
Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity.
Yu M, Ye H, De-Paula RB, Mangleburg CG, Wu T, Lee TV, Li Y, Duong D, Phillips B, Cruchaga C, Allen GI, Seyfried NT, Al-Ramahi I, Botas J, Shulman JM. Yu M, et al. PLoS Genet. 2023 May 18;19(5):e1010760. doi: 10.1371/journal.pgen.1010760. eCollection 2023 May. PLoS Genet. 2023. PMID: 37200393 Free PMC article.
Heterozygous variants in the glucocerebrosidase (GBA) gene are common and potent risk factors for Parkinson's disease (PD). GBA also causes the autosomal recessive lysosomal storage disorder (LSD), Gaucher disease, and emerging evidence from human genetics implicates many …
Heterozygous variants in the glucocerebrosidase (GBA) gene are common and potent risk factors for Parkinson's disease (PD). GBA also …
35 results