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Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: jou c. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 Free PMC article.
Detection of GB virus C by the RT-PCR LCx system.
Marshall RL, Cockerill J, Friedman P, Hayden M, Hodges S, Holas C, Jennings C, Jou CK, Kratochvil J, Laffler T, Lewis N, Scheffel C, Traylor D, Wang L, Solomon N. Marshall RL, et al. Among authors: jou ck. J Virol Methods. 1998 Jul;73(1):99-107. doi: 10.1016/s0166-0934(98)00050-0. J Virol Methods. 1998. PMID: 9705181
Histopathology in HCM.
Tejado BSM, Jou C. Tejado BSM, et al. Among authors: jou c. Glob Cardiol Sci Pract. 2018 Aug 12;2018(3):20. doi: 10.21542/gcsp.2018.20. Glob Cardiol Sci Pract. 2018. PMID: 30393632 Free PMC article. Review. No abstract available.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
del Mar O'Callaghan M, Emperador S, López-Gallardo E, Jou C, Buján N, Montero R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch R, Montoya J. del Mar O'Callaghan M, et al. Among authors: jou c. Neurogenetics. 2012 Aug;13(3):245-50. doi: 10.1007/s10048-012-0322-0. Epub 2012 May 26. Neurogenetics. 2012. PMID: 22638997
156 results