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Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, Engvall M, Lesko N, Wibom R, Nennesmo I, Calvo-Garrido J, Press R, Stranneheim H, Freyer C, Wedell A, Wredenberg A. Bruhn H, et al. Among authors: calvo garrido j. Neurol Genet. 2021 Mar 15;7(2):e566. doi: 10.1212/NXG.0000000000000566. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33732874 Free PMC article.
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C, Laine I, Dallabona C, Clemente P, Calvo-Garrido J, Wibom R, Naess K, Barbaro M, Falk A, Donnini C, Freyer C, Wredenberg A, Wedell A. Maffezzini C, et al. Among authors: calvo garrido j. Mol Genet Genomic Med. 2019 Jun;7(6):e654. doi: 10.1002/mgg3.654. Epub 2019 Mar 28. Mol Genet Genomic Med. 2019. PMID: 30920170 Free PMC article.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T. Haack TB, et al. Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545679 Free PMC article.
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Calvo-Garrido J, Maffezzini C, Schober FA, Clemente P, Uhlin E, Kele M, Stranneheim H, Lesko N, Bruhn H, Svenningsson P, Falk A, Wedell A, Freyer C, Wredenberg A. Calvo-Garrido J, et al. Stem Cell Reports. 2019 Apr 9;12(4):696-711. doi: 10.1016/j.stemcr.2019.01.023. Epub 2019 Feb 28. Stem Cell Reports. 2019. PMID: 30827875 Free PMC article.
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.
Pajak A, Laine I, Clemente P, El-Fissi N, Schober FA, Maffezzini C, Calvo-Garrido J, Wibom R, Filograna R, Dhir A, Wedell A, Freyer C, Wredenberg A. Pajak A, et al. Among authors: calvo garrido j. PLoS Genet. 2019 Jul 31;15(7):e1008240. doi: 10.1371/journal.pgen.1008240. eCollection 2019 Jul. PLoS Genet. 2019. PMID: 31365523 Free PMC article.
Metabolic regulation of neurodifferentiation in the adult brain.
Maffezzini C, Calvo-Garrido J, Wredenberg A, Freyer C. Maffezzini C, et al. Among authors: calvo garrido j. Cell Mol Life Sci. 2020 Jul;77(13):2483-2496. doi: 10.1007/s00018-019-03430-9. Epub 2020 Jan 7. Cell Mol Life Sci. 2020. PMID: 31912194 Free PMC article. Review.
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