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

Year Number of Results
2008 1
2009 6
2010 3
2011 4
2012 5
2013 4
2014 14
2015 8
2016 20
2017 10
2018 12
2019 12
2020 8
2021 4
2022 3
2023 5
2024 0

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108 results

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Page 1
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. PMID: 37873269 Free PMC article. Preprint.
Visual memory failure presages conversion to MELAS phenotype.
Leaffer EB, De Vivo DC, Engelstad K, Fryer RH, Gu Y, Shungu DC, Hirano M, DiMauro S, Hinton VJ. Leaffer EB, et al. Ann Clin Transl Neurol. 2022 Jun;9(6):841-852. doi: 10.1002/acn3.51564. Epub 2022 May 6. Ann Clin Transl Neurol. 2022. PMID: 35522125 Free PMC article.
Diverse genetic causes of polymicrogyria with epilepsy.
Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsia. 2021 Apr;62(4):973-983. doi: 10.1111/epi.16854. Epub 2021 Apr 5. Epilepsia. 2021. PMID: 33818783 Free PMC article.
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK. Sharma R, et al. J Clin Invest. 2021 Jan 19;131(2):e136055. doi: 10.1172/JCI136055. J Clin Invest. 2021. PMID: 33463549 Free PMC article. Clinical Trial.
108 results