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

Year Number of Results
2002 1
2003 3
2004 1
2008 3
2009 1
2011 1
2012 2
2013 1
2014 5
2015 3
2016 4
2017 2
2018 2
2019 1
2020 1
2021 2
2022 2
2023 1
2024 1

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Page 1
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Andersen C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X. Qi C, et al. Among authors: brites p. Genet Med. 2022 Feb;24(2):319-331. doi: 10.1016/j.gim.2021.09.014. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906466 Free PMC article.
Profilin 1 delivery tunes cytoskeletal dynamics toward CNS axon regeneration.
Pinto-Costa R, Sousa SC, Leite SC, Nogueira-Rodrigues J, Ferreira da Silva T, Machado D, Marques J, Costa AC, Liz MA, Bartolini F, Brites P, Costell M, Fässler R, Sousa MM. Pinto-Costa R, et al. Among authors: brites p. J Clin Invest. 2020 Apr 1;130(4):2024-2040. doi: 10.1172/JCI125771. J Clin Invest. 2020. PMID: 31945017 Free PMC article.
Mitochondrial disruption in peroxisome deficient cells is hepatocyte selective but is not mediated by common hepatic peroxisomal metabolites.
Shinde AB, Baboota RK, Denis S, Loizides-Mangold U, Peeters A, Espeel M, Malheiro AR, Riezman H, Vinckier S, Vaz FM, Brites P, Ferdinandusse S, Van Veldhoven PP, Baes M. Shinde AB, et al. Among authors: brites p. Mitochondrion. 2018 Mar;39:51-59. doi: 10.1016/j.mito.2017.08.013. Epub 2017 Sep 1. Mitochondrion. 2018. PMID: 28866057
31 results