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

Year Number of Results
2002 1
2003 2
2004 3
2005 1
2006 3
2007 3
2008 7
2009 3
2010 6
2011 9
2012 8
2013 9
2014 4
2015 6
2016 10
2017 11
2018 10
2019 9
2020 13
2021 15
2022 6
2023 9
2024 4

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134 results

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Page 1
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G, Stefansdottir S, Bindoff LA, Sand T, Brodtkorb E. Arntsen V, et al. Among authors: bindoff la. Front Neurol. 2024 Feb 14;15:1355861. doi: 10.3389/fneur.2024.1355861. eCollection 2024. Front Neurol. 2024. PMID: 38419708 Free PMC article.
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina AL, Villar-Fernandez M, Hernández-Eguiazu H, Hernández I, Park Y, Goicoechea L, Pascual-Frías N, Garcia-Ruiz C, Fernandez-Checa J, Martí-Carrera I, Gil-Bea FJ, Hasan MT, Gegg ME, Bredrup C, Knappskog PM, Gereñu-Lopetegui G, Varhaug KN, Bindoff LA, Spinazzola A, Yoon WH, Holt IJ. Muñoz-Oreja M, et al. Among authors: bindoff la. Brain. 2024 Jan 18:awae018. doi: 10.1093/brain/awae018. Online ahead of print. Brain. 2024. PMID: 38242545
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients.
Di Donfrancesco A, Berlingieri C, Giacomello M, Frascarelli C, Magalhaes Rebelo AP, Bindoff LA, Reeval S, Renbaum P, Santorelli FM, Massaro G, Viscomi C, Zeviani M, Ghezzi D, Bottani E, Brunetti D. Di Donfrancesco A, et al. Among authors: bindoff la. Front Pharmacol. 2023 Jul 26;14:1220620. doi: 10.3389/fphar.2023.1220620. eCollection 2023. Front Pharmacol. 2023. PMID: 37576821 Free PMC article.
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099].
Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E. Jamali A, et al. Among authors: bindoff la. Epilepsy Res. 2023 Dec;198:107113. doi: 10.1016/j.eplepsyres.2023.107113. Epub 2023 Mar 9. Epilepsy Res. 2023. PMID: 36906427 No abstract available.
134 results