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Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez C, Martorell L, Estévez-Arias B, Matalonga L, Laurie S, Jou C, Lau J, Thompson R, Shen X, Engel AG, Nascimento A, Lochmüller H, Selcen D. Natera-de Benito D, et al. Pediatr Neurol. 2024 May 9;157:5-13. doi: 10.1016/j.pediatrneurol.2024.04.027. Online ahead of print. Pediatr Neurol. 2024. PMID: 38833907
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.
Villafuerte B, Carrasco-López C, Herranz A, Garzón L, Simón R, Natera-de-Benito D, Alikhani P, Tenorio J, García-Santiago F, Solis M, Del-Pozo Á, Lapunzina P, Ortigoza-Escobar JD, Santisteban P, Moreno JC. Villafuerte B, et al. Among authors: natera de benito d. Thyroid. 2024 May 29. doi: 10.1089/thy.2023.0593. Online ahead of print. Thyroid. 2024. PMID: 38757609
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: natera de benito d. 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.
Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international.
Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Natera de Benito D, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C, Dahan-Oliel N. Nematollahi S, et al. Among authors: natera de benito d. Dev Med Child Neurol. 2024 Apr 9. doi: 10.1111/dmcn.15915. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 38590274
Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional.
Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Natera de Benito D, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C, Dahan-Oliel N. Nematollahi S, et al. Among authors: natera de benito d. Dev Med Child Neurol. 2024 Apr 6. doi: 10.1111/dmcn.15914. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 38581247
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: natera de benito d. J Neuromuscul Dis. 2024;11(3):647-653. doi: 10.3233/JND-230216. J Neuromuscul Dis. 2024. PMID: 38489196 Free PMC article.
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: natera de benito d. 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
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: natera de benito d. 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.
72 results