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389 results

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Page 1
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M, Özdemir S, Fritz C, Möbius W, Kleineidam L, Mandelkow E, Biernat J, Doğdu C, Peters O, Cosma NC, Wang X, Schneider LS, Priller J, Spruth E, Kühn AA, Krause P, Klockgether T, Vogt IR, Kimmich O, Spottke A, Hoffmann DC, Fliessbach K, Miklitz C, McCormick C, Weydt P, Falkenburger B, Brandt M, Guenther R, Dinter E, Wiltfang J, Hansen N, Bähr M, Zerr I, Flöel A, Nestor PJ, Düzel E, Glanz W, Incesoy E, Bürger K, Janowitz D, Perneczky R, Rauchmann BS, Hopfner F, Wagemann O, Levin J, Teipel S, Kilimann I, Goerss D, Prudlo J, Gasser T, Brockmann K, Mengel D, Zimmermann M, Synofzik M, Wilke C, Selma-González J, Turon-Sans J, Santos-Santos MA, Alcolea D, Rubio-Guerra S, Fortea J, Carbayo Á, Lleó A, Rojas-García R, Illán-Gala I, Wagner M, Frommann I, Roeske S, Bertram L, Heneka MT, Brosseron F, Ramirez A, Schmid M, Beschorner R, Halle A, Herms J, Neumann M, Barthélemy NR, Bateman RJ, Rizzu P, Heutink P, Dols-Icardo O, Höglinger G, Hermann A, Schneider A. Chatterjee M, et al. Among authors: heutink p. Nat Med. 2024 Jun;30(6):1771-1783. doi: 10.1038/s41591-024-02937-4. Epub 2024 Jun 18. Nat Med. 2024. PMID: 38890531 Free PMC article.
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.
Reynolds RH, Botía J, Nalls MA; International Parkinson’s Disease Genomics Consortium (IPDGC); System Genomics of Parkinson’s Disease (SGPD); Hardy J, Gagliano Taliun SA, Ryten M. Reynolds RH, et al. NPJ Parkinsons Dis. 2019 Apr 17;5:6. doi: 10.1038/s41531-019-0076-6. eCollection 2019. NPJ Parkinsons Dis. 2019. PMID: 31016231 Free PMC article.
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J; International Parkinson’s Disease Genomics Consortium (IPDGC); Heutink P, Shulman JM. Robak LA, et al. Among authors: heutink p. Brain. 2017 Dec 1;140(12):3191-3203. doi: 10.1093/brain/awx285. Brain. 2017. PMID: 29140481 Free PMC article.
Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia.
Sosero YL, Bandres-Ciga S, Ferwerda B, Tocino MTP, Belloso DR, Gómez-Garre P, Faouzi J, Taba P, Pavelka L, Marques TM, Gomes CPC, Kolodkin A, May P, Milanowski LM, Wszolek ZK, Uitti RJ, Heutink P, van Hilten JJ, Simon DK, Eberly S, Alvarez I, Krohn L, Yu E, Freeman K, Rudakou U, Ruskey JA, Asayesh F, Menéndez-Gonzàlez M, Pastor P, Ross OA, Krüger R; NCER‐PD Consortium; Corvol JC, Koks S, Mir P, De Bie RMA, Iwaki H, Gan-Or Z; International Parkinson's Disease Genomic Consortium. Sosero YL, et al. Among authors: heutink p. Mov Disord. 2024 Oct;39(10):1773-1783. doi: 10.1002/mds.29960. Epub 2024 Aug 12. Mov Disord. 2024. PMID: 39132902
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle JC, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson's Genetics Program (GP2). Junker J, et al. Among authors: heutink p. Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925. Epub 2024 Jul 30. Mov Disord. 2024. PMID: 39076159
Dopamine pathway and Parkinson's risk variants are associated with levodopa-induced dyskinesia.
Sosero YL, Bandres-Ciga S, Ferwerda B, Tocino MTP, Belloso DR, Gómez-Garre P, Faouzi J, Taba P, Pavelka L, Marques TM, Gomes CPC, Kolodkin A, May P, Milanowski LM, Wszolek ZK, Uitti RJ, Heutink P, van Hilten JJ, Simon DK, Eberly S, Alvarez I, Krohn L, Yu E, Freeman K, Rudakou U, Ruskey JA, Asayesh F, Menéndez-Gonzàlez M, Pastor P, Ross OA, Krüger R, Corvol JC, Koks S, Mir P, De Bie RMA, Iwaki H, Gan-Or Z. Sosero YL, et al. Among authors: heutink p. medRxiv [Preprint]. 2023 Sep 20:2023.08.28.23294610. doi: 10.1101/2023.08.28.23294610. medRxiv. 2023. Update in: Mov Disord. 2024 Oct;39(10):1773-1783. doi: 10.1002/mds.29960 PMID: 37790572 Free PMC article. Updated. Preprint.
Arrayed CRISPR libraries for the genome-wide activation, deletion and silencing of human protein-coding genes.
Yin JA, Frick L, Scheidmann MC, Liu T, Trevisan C, Dhingra A, Spinelli A, Wu Y, Yao L, Vena DL, Knapp B, Guo J, De Cecco E, Ging K, Armani A, Oakeley EJ, Nigsch F, Jenzer J, Haegele J, Pikusa M, Täger J, Rodriguez-Nieto S, Bouris V, Ribeiro R, Baroni F, Bedi MS, Berry S, Losa M, Hornemann S, Kampmann M, Pelkmans L, Hoepfner D, Heutink P, Aguzzi A. Yin JA, et al. Among authors: heutink p. Nat Biomed Eng. 2024 Dec 4. doi: 10.1038/s41551-024-01278-4. Online ahead of print. Nat Biomed Eng. 2024. PMID: 39633028
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
389 results