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Page 1
Primary mitochondrial myopathies in childhood.
Neuromuscul Disord. 2021 Oct;31(10):978-987. doi: 10.1016/j.nmd.2021.08.005.
Neuromuscul Disord. 2021.
PMID: 34736635
Review.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochmüller H, Minczuk M, Horvath R.
Van Haute L, et al. Among authors: olimpio c.
Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7.
Nat Commun. 2023.
PMID: 36823193
Free PMC article.
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Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T, Polavarapu K, Olimpio C, Paramonov I, Lochmüller H, Horvath R.
Ferreira T, et al. Among authors: olimpio c.
J Neurol. 2024 Jun;271(6):3546-3553. doi: 10.1007/s00415-024-12319-y. Epub 2024 Mar 28.
J Neurol. 2024.
PMID: 38549004
Free PMC article.
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Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Major TC, Arany ES, Schon K, Simo M, Karcagi V, van den Ameele J, Yu Wai Man P, Chinnery PF, Olimpio C, Horvath R.
Major TC, et al. Among authors: olimpio c.
Front Neurol. 2023 Dec 1;14:1292320. doi: 10.3389/fneur.2023.1292320. eCollection 2023.
Front Neurol. 2023.
PMID: 38107630
Free PMC article.
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Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
Olimpio C, Paramonov I, Matalonga L, Laurie S, Schon K, Polavarapu K, Kirschner J, Schara-Schmidt U, Lochmüller H, Chinnery PF, Horvath R.
Olimpio C, et al.
J Neuromuscul Dis. 2024 May 13. doi: 10.3233/JND-240020. Online ahead of print.
J Neuromuscul Dis. 2024.
PMID: 38759022
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