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Page 1
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: duat rodriguez a. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients].
Cantarín-Extremera V, Bernardino-Cuesta B, Martín-Villaescusa C, Melero-Llorente J, Hernández-Martín A, Aparicio-López C, de Lucas-Collantes C, Tamariz Martel-Moreno A, Duat-Rodríguez A, Ruiz-Falcó-Rojas ML. Cantarín-Extremera V, et al. Rev Neurol. 2021 Sep 1;73(5):141-150. doi: 10.33588/rn.7305.2020665. Rev Neurol. 2021. PMID: 34328203 Free article. Spanish.
The LINCE Project: A Pathway for Diagnosing NCL2 Disease.
Rodrigues D, de Castro MJ, Crujeiras P, Duat-Rodriguez A, Marco AV, Del Toro M, Couce ML, Colón C. Rodrigues D, et al. Among authors: duat rodriguez a. Front Pediatr. 2022 Mar 29;10:876688. doi: 10.3389/fped.2022.876688. eCollection 2022. Front Pediatr. 2022. PMID: 35425725 Free PMC article.
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, Valero AM, Duat-Rodriguez A, Becerra JL, Bonache S, Lázaro Garcia C, Comas C, Bielsa I, Serra E, Hernández-Chico C, Martin Y, Castellanos E, Blanco I. Garcia B, et al. Among authors: duat rodriguez a. J Med Genet. 2022 Oct;59(10):1017-1023. doi: 10.1136/jmedgenet-2021-108301. Epub 2022 Feb 4. J Med Genet. 2022. PMID: 35121649
Cerebral and cerebellar pseudoatrophy associated with valproic acid. Report of three pediatric cases.
Ordoño-Saiz MV, Púa-Torrejón RC, Justel-Rodríguez M, Arias-Vivas E, Heppe-Montero M, González-Alguacil E, Duat-Rodríguez A, Ruiz-Falcó-Rojas ML, García-Peñas JJ, Gutiérrez-Delicado E, Soto-Insuga V. Ordoño-Saiz MV, et al. Among authors: duat rodriguez a. Rev Neurol. 2023 Oct 16;77(8):197-201. doi: 10.33588/rn.7708.2023186. Rev Neurol. 2023. PMID: 37807884 Free PMC article.
57 results