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Page 1
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C, Nascimento A, Codina A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero R, Natera-de Benito D, Ortez CI, Marquez J, Zelaya MV, Gutierrez-Mata A, Badosa C, Carrera-García L, Expósito-Escudero J, Roldán M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C, Artuch R. Jou C, et al. Among authors: exposito escudero j. Int J Mol Sci. 2022 Sep 20;23(19):11002. doi: 10.3390/ijms231911002. Int J Mol Sci. 2022. PMID: 36232299 Free PMC article.
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.
Frongia AL, Natera-de Benito D, Ortez C, Alarcón M, Borrás A, Medina J, Vigo M, Padrós N, Moya O, Armas J, Carrera-García L, Expósito-Escudero J, Cuadras D, Bernal S, Martorell L, Colomer J, Nascimento A. Frongia AL, et al. Neuromuscul Disord. 2019 Jul;29(7):517-524. doi: 10.1016/j.nmd.2019.04.003. Epub 2019 Apr 18. Neuromuscul Disord. 2019. PMID: 31201046
Epilepsy in Duchenne and Becker muscular dystrophies.
Armijo Gómez JA, Fernandez-Garcia MA, Camacho A, Liz M, Ortez C, Lafuente-Hidalgo M, Toledo Bravo-de Laguna L, Estévez-Arias B, Carrera-García L, Expósito-Escudero J, Domínguez-Carral J, Nascimento A, Natera-de Benito D. Armijo Gómez JA, et al. Among authors: exposito escudero j. Ann Clin Transl Neurol. 2024 May 1. doi: 10.1002/acn3.52058. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38693632 Free article.
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: exposito escudero j. J Neuromuscul Dis. 2024;11(3):647-653. doi: 10.3233/JND-230216. J Neuromuscul Dis. 2024. PMID: 38489196
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: exposito escudero j. 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: exposito escudero j. Front Genet. 2023 Mar 24;14:1135438. doi: 10.3389/fgene.2023.1135438. eCollection 2023. Front Genet. 2023. PMID: 37035729 Free PMC article.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: exposito escudero j. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
Natera-de Benito D, Olival J, Garcia-Cabau C, Jou C, Roldan M, Codina A, Expósito-Escudero J, Batlle C, Carrera-García L, Ortez C, Salvatella X, Palau F, Nascimento A, Hoenicka J. Natera-de Benito D, et al. Among authors: exposito escudero j. Ann Clin Transl Neurol. 2023 Mar;10(3):408-425. doi: 10.1002/acn3.51731. Epub 2023 Jan 18. Ann Clin Transl Neurol. 2023. PMID: 36651622 Free PMC article.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Pijuan J, Cantarero L, Natera-de Benito D, Altimir A, Altisent-Huguet A, Díaz-Osorio Y, Carrera-García L, Expósito-Escudero J, Ortez C, Nascimento A, Hoenicka J, Palau F. Pijuan J, et al. Among authors: exposito escudero j. Front Neurosci. 2022 Jan 31;16:784880. doi: 10.3389/fnins.2022.784880. eCollection 2022. Front Neurosci. 2022. PMID: 35177962 Free PMC article.
19 results