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105 results

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Page 1
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. Maroni MJ, et al. Among authors: ortez c. Brain. 2025 Jun 11:awaf212. doi: 10.1093/brain/awaf212. Online ahead of print. Brain. 2025. PMID: 40494548
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.
Madrigal I, Villar-Vera C, Arca G, Expósito-Escudero J, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina A, Estévez-Arias B, Carrera-Garcia L, Ortez C, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento A, Jou C, Vilchez JJ, Natera-de Benito D. Madrigal I, et al. Among authors: ortez c. Neuropathol Appl Neurobiol. 2025 Jun;51(3):e70025. doi: 10.1111/nan.70025. Neuropathol Appl Neurobiol. 2025. PMID: 40488356 Free PMC article.
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero D, Codina A, Ortez C, Medina J, DeSena DeCabo L, Carrera-García L, Expósito-Escudero J, Jou C, Tizzano EF, Nascimento A, Natera-de Benito D. Pérez-Vidarte F, et al. Among authors: ortez c. Ann Clin Transl Neurol. 2025 May 29. doi: 10.1002/acn3.70088. Online ahead of print. Ann Clin Transl Neurol. 2025. PMID: 40443119 Free article.
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez C, Jou C, Martí-Carrera I, López-Márquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento A, Gallardo E, Olivé M, Gallano P, González-Quereda L. Segarra-Casas A, et al. Among authors: ortez c. Ann Clin Transl Neurol. 2025 May 25. doi: 10.1002/acn3.70078. Online ahead of print. Ann Clin Transl Neurol. 2025. PMID: 40413734 Free article.
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies.
Carrera-García L, Expósito-Escudero J, Ñungo Garzón NC, Pareja A, Fernández-García MA, Ortez C, Medina J, Martínez-Salcedo E, Urbano M, Grimalt MA, Munell F, García-Campos Ó, Roca S, Moya O, Estévez-Arias B, Balsells S, Frongia AL, Borràs A, Puig-Ram C, García Romero M, Calvo R, López-Lobato M, Pitarch-Castellano I, Natera-de Benito D, Nascimento A. Carrera-García L, et al. Among authors: ortez c. J Neurol. 2025 Apr 9;272(5):331. doi: 10.1007/s00415-025-13042-y. J Neurol. 2025. PMID: 40205228
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.
Della Marina A, Koutsoulidou A, Natera-de Benito D, Tykocinski LO, Tomazou M, Georgiou K, Laner A, Kölbel H, Nascimento A, Ortez C, Abicht A, Thakur BK, Lochmüller H, Phylactou LA, Ruck T, Schara-Schmidt U, Kale D, Hentschel A, Roos A. Della Marina A, et al. Among authors: ortez c. Acta Neuropathol Commun. 2025 Feb 13;13(1):29. doi: 10.1186/s40478-025-01946-9. Acta Neuropathol Commun. 2025. PMID: 39948634 Free PMC article.
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: ortez c. Eur J Hum Genet. 2024 Dec 10. doi: 10.1038/s41431-024-01756-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39658675 No abstract available.
Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell P, Millard J, Lee R, Cohen A, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Mancini GM, Schot R, Barakat TS, Richmond CM, Lauzon J, Elsayed Ibrahim AI, Benito DN, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. Maroni MJ, et al. Among authors: ortez c. medRxiv [Preprint]. 2024 Nov 2:2024.10.31.24314716. doi: 10.1101/2024.10.31.24314716. medRxiv. 2024. Update in: Brain. 2025 Jun 11:awaf212. doi: 10.1093/brain/awaf212. PMID: 39574879 Free PMC article. Updated. Preprint.
105 results