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2020 2
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Page 1
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: marco hernandez av. Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400. Int J Mol Sci. 2023. PMID: 38003592 Free PMC article.
[Neurological sequelae in patients with congenital cytomegalovirus].
de Juan Gallach A, Alemany Albert M, Marco Hernández AV, Boronat González N, Cernada Badía M, Tomás Vila M. de Juan Gallach A, et al. Among authors: marco hernandez av. An Pediatr (Engl Ed). 2020 Aug;93(2):111-117. doi: 10.1016/j.anpedi.2019.12.021. Epub 2020 Feb 25. An Pediatr (Engl Ed). 2020. PMID: 32111550 Free article. Spanish.
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Martínez-Matilla M, Ferre-Fernández JJ, Aparisi MJ, Marco-Hernández AV, Cerón JA, Crow YJ, Martínez-Castellano F, Tomás-Vila M, Pedrola L. Martínez-Matilla M, et al. Among authors: marco hernandez av. Pediatr Neurol. 2020 Nov;112:53-55. doi: 10.1016/j.pediatrneurol.2020.07.011. Epub 2020 Jul 25. Pediatr Neurol. 2020. PMID: 32911264 No abstract available.
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.
Kegele J, Krüger J, Koko M, Lange L, Marco Hernandez AV, Martinez F, Münchau A, Lerche H, Lauxmann S. Kegele J, et al. Among authors: marco hernandez av. Front Neurol. 2021 Jul 8;12:701351. doi: 10.3389/fneur.2021.701351. eCollection 2021. Front Neurol. 2021. PMID: 34305802 Free PMC article.
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.
Nieto-Barcelo JJ, Gonzalez Montes N, Gonzalo Alonso I, Martinez F, Aparisi MJ, Martinez-Matilla M, Marco Hernandez AV, Tomás Vila M. Nieto-Barcelo JJ, et al. Among authors: marco hernandez av. J Pediatr Genet. 2021 Feb 19;12(2):159-162. doi: 10.1055/s-0041-1723958. eCollection 2023 Jun. J Pediatr Genet. 2021. PMID: 37090830 Free PMC article.