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Page 1
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
Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia.
García-Rincón D, Díaz-Alonso J, Paraíso-Luna J, Ortega Z, Aguareles J, de Salas-Quiroga A, Jou C, de Prada I, Martínez-Cerdeño V, Aronica E, Guzmán M, Pérez-Jiménez MÁ, Galve-Roperh I. García-Rincón D, et al. Among authors: jou c. Front Pharmacol. 2019 Jan 9;9:1508. doi: 10.3389/fphar.2018.01508. eCollection 2018. Front Pharmacol. 2019. PMID: 30687088 Free PMC article.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: jou c. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
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.
168 results