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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2010 1
2012 1
2013 1
2014 4
2015 51
2016 212
2017 248
2018 156
2019 92
2020 168
2021 113
2022 43
2023 35
2024 7

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973 results

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Page 1
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes.
Ganz J, Luquette LJ, Bizzotto S, Miller MB, Zhou Z, Bohrson CL, Jin H, Tran AV, Viswanadham VV, McDonough G, Brown K, Chahine Y, Chhouk B, Galor A, Park PJ, Walsh CA. Ganz J, et al. Cell. 2024 Apr 11;187(8):1955-1970.e23. doi: 10.1016/j.cell.2024.02.025. Epub 2024 Mar 18. Cell. 2024. PMID: 38503282 Free PMC article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
The secondary somatosensory cortex gates mechanical and heat sensitivity.
Taub DG, Jiang Q, Pietrafesa F, Su J, Carroll A, Greene C, Blanchard MR, Jain A, El-Rifai M, Callen A, Yager K, Chung C, He Z, Chen C, Woolf CJ. Taub DG, et al. Nat Commun. 2024 Feb 12;15(1):1289. doi: 10.1038/s41467-024-45729-7. Nat Commun. 2024. PMID: 38346995 Free PMC article.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC. Lee AS, et al. medRxiv [Preprint]. 2023 Dec 27:2023.12.22.23300468. doi: 10.1101/2023.12.22.23300468. medRxiv. 2023. PMID: 38234731 Free PMC article. Preprint.
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
Saffari A, Brechmann B, Böger C, Saber WA, Jumo H, Whye D, Wood D, Wahlster L, Alecu JE, Ziegler M, Scheffold M, Winden K, Hubbs J, Buttermore ED, Barrett L, Borner GHH, Davies AK, Ebrahimi-Fakhari D, Sahin M. Saffari A, et al. Nat Commun. 2024 Jan 17;15(1):584. doi: 10.1038/s41467-023-44264-1. Nat Commun. 2024. PMID: 38233389 Free PMC article.
A versatile pumpless multi-channel fluidics system for maintenance and real-time functional assessment of tissue and cells.
Kamat V, Grumbine MK, Bao K, Mokate K, Khalil G, Cook D, Clearwater B, Hirst R, Harman J, Boeck M, Fu Z, Smith LEH, Goswami M, Wubben TJ, Walker EM, Zhu J, Soleimanpour SA, Scarlett JM, Robbings BM, Hass D, Hurley JB, Sweet IR. Kamat V, et al. Cell Rep Methods. 2023 Nov 20;3(11):100642. doi: 10.1016/j.crmeth.2023.100642. Epub 2023 Nov 13. Cell Rep Methods. 2023. PMID: 37963464 Free PMC article.
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
Papadelis C, Ntolkeras G, Tokatly Latzer I, DiBacco ML, Afacan O, Warfield S, Shi X, Roullet JB, Gibson KM; SSADH Deficiency Investigators Consortium; Pearl PL. Papadelis C, et al. Brain Commun. 2023 Oct 25;5(6):fcad291. doi: 10.1093/braincomms/fcad291. eCollection 2023. Brain Commun. 2023. PMID: 37953848 Free PMC article.
973 results