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Temporo-parieto-occipital disconnection (TPO) by robot-assisted magnetic resonance imaging-guided laser interstitial thermal therapy (MRIgLITT) for refractory epilepsy in a pediatric patient: Proof-of-principle case report and surgical nuances.
Candela-Cantó S, Hinojosa J, Muchart J, Jou C, Palau L, Valera C, Flores C, Palacio-Navarro A, Climent MA, Pascual A, Gonzalez A, Culebras D, Alamar M, Becerra V, Aparicio J, Rumià J. Candela-Cantó S, et al. Among authors: jou c. World Neurosurg. 2024 Apr 17:S1878-8750(24)00626-0. doi: 10.1016/j.wneu.2024.04.064. Online ahead of print. World Neurosurg. 2024. PMID: 38641246
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.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D. Estévez-Arias B, et al. Among authors: jou c. J Neuromuscul Dis. 2024 Mar 10. doi: 10.3233/JND-230216. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 38489196
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation.
Pijuan J, Sevrioukova IF, García-Campos Ó, Hernaez M, Gort L, Gómez-Chiari M, Jou C, Candela-Cantó S, Rumiá J, Artuch R, Palau F, Hoenicka J, Ortigoza-Escobar JD. Pijuan J, et al. Among authors: jou c. Mov Disord. 2024 Jan;39(1):215-217. doi: 10.1002/mds.29616. Epub 2023 Oct 3. Mov Disord. 2024. PMID: 37787095 No abstract available.
Photoactivated Protein Degrader for Optical Control of Synaptic Function.
Ko T, Jou C, Grau-Perales AB, Reynders M, Fenton AA, Trauner D. Ko T, et al. Among authors: jou c. ACS Chem Neurosci. 2023 Oct 4;14(19):3704-3713. doi: 10.1021/acschemneuro.3c00390. Epub 2023 Sep 15. ACS Chem Neurosci. 2023. PMID: 37712589 Free PMC article.
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations.
Suárez-Calvet X, Fernández-Simón E, Natera D, Jou C, Pinol-Jurado P, Villalobos E, Ortez C, Monceau A, Schiava M, Codina A, Verdu-Díaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento A, Diaz-Manera J. Suárez-Calvet X, et al. Among authors: jou c. Cell Death Dis. 2023 Sep 7;14(9):596. doi: 10.1038/s41419-023-06103-5. Cell Death Dis. 2023. PMID: 37673877 Free PMC article.
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.
Oliva C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez-Gonzalez H, Jou C, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Among authors: jou c. J Chromatogr B Analyt Technol Biomed Life Sci. 2023 Jul 15;1226:123787. doi: 10.1016/j.jchromb.2023.123787. Epub 2023 Jun 10. J Chromatogr B Analyt Technol Biomed Life Sci. 2023. PMID: 37327517
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. Among authors: jou c. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
156 results