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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 2
2013 3
2014 3
2015 8
2016 6
2017 5
2018 7
2019 8
2020 11
2021 12
2022 9
2023 11
2024 3

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78 results

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Page 1
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: ortez c. J Neuromuscul Dis. 2024 Mar 10. doi: 10.3233/JND-230216. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 38489196
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R. Cascajo-Almenara MV, et al. Among authors: ortez ci. Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5. Eur J Hum Genet. 2024. PMID: 38316953
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy.
Muntoni F, Byrne BJ, McMillan HJ, Ryan MM, Wong BL, Dukart J, Bansal A, Cosson V, Dreghici R, Guridi M, Rabbia M, Staunton H, Tirucherai GS, Yen K, Yuan X, Wagner KR; Taldefgrobep Alfa Study Group. Muntoni F, et al. Neurol Ther. 2024 Feb;13(1):183-219. doi: 10.1007/s40120-023-00570-w. Epub 2024 Jan 8. Neurol Ther. 2024. PMID: 38190001 Free PMC article.
[Gene therapy: Where are we? Where are we going?].
Expósito J, Natera D, Carrera L, Armijo J, Rios A, Nascimento A, Ortez C. Expósito J, et al. Among authors: ortez c. Medicina (B Aires). 2023 Sep;83 Suppl 4:13-17. Medicina (B Aires). 2023. PMID: 37714117 Free article. Review. Spanish.
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: ortez 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.
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez C, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA, Bönnemann CG. Mohassel P, et al. Among authors: ortez c. Ann Clin Transl Neurol. 2023 Aug;10(8):1442-1455. doi: 10.1002/acn3.51834. Epub 2023 Jul 22. Ann Clin Transl Neurol. 2023. PMID: 37483011 Free PMC article.
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: ortez 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.
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
Trifunov S, Natera-de Benito D, Carrera-García L, Codina A, Expósito-Escudero J, Ortez C, Medina J, Torres Alcala S, Bernal S, Alias L, Badosa C, Balsells S, Alcolea D, Nascimento A, Jimenez-Mallebrera C. Trifunov S, et al. Among authors: ortez c. J Neuromuscul Dis. 2023;10(4):653-665. doi: 10.3233/JND-230012. J Neuromuscul Dis. 2023. PMID: 37038823 Free PMC article.
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar S, Coll M, Fiol V, Fernandez-Falgueras A, Cruzalegui J, Iglesias A, Moll I, Perez-Serra A, Martínez-Barrios E, Ferrer-Costa C, Del Olmo B, Puigmulè M, Alcalde M, Lopez L, Pico F, Berrueco R, Brugada J, Zschaeck I, Natera-de Benito D, Carrera-García L, Exposito-Escudero J, Ortez C, Nascimento A, Brugada R, Sarquella-Brugada G, Campuzano O. Cesar S, et al. Among authors: ortez c. Front Genet. 2023 Mar 24;14:1135438. doi: 10.3389/fgene.2023.1135438. eCollection 2023. Front Genet. 2023. PMID: 37035729 Free PMC article.
78 results