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Emergencias : Revista De La Sociedad Espanola De Medicina De Emergencias|May 31, 2024
Identifying risk for status epilepticus with the ADAN scale: a prospective multicenter validation studyJuan Luis Restrepo-Vera, Jacint Sala-Padró, Beatriz Parejo-Carbonell, et al.
Genes|August 26, 2022
An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with <i>TARDBP</i> Gene: A Case Report and Review of the LiteratureDaniel Sánchez-Tejerina, Juan Luis Restrepo-Vera, Eulalia Rovira-Moreno, et al.
Brain and Behavior|June 19, 2025
Neurological Manifestations of HEV Infection: A Rare Phenomenon or an Underrecognized Reality?Maider Iza, Daniel Ramos, Arnau Llauradó, et al.
Clinical Genetics|December 22, 2022
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A geneArnau Llauradó, Eulalia Rovira-Moreno, Marta Codina-Solà, et al.
Journal of Human Genetics|March 24, 2023
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance patternJuan Luis Restrepo-Vera, Eulàlia Rovira-Moreno, Javier Ramón, et al.
Neuromuscular Disorders : NMD|April 29, 2023
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related diseaseJuan Luis Restrepo-Vera, Patricia Muñoz-Cabello, Jordi Pérez-Rodon, et al.
European Journal of Neurology|December 19, 2020
COVID-19 in multiple sclerosis patients: susceptibility, severity risk factors and serological responseAna Zabalza, Simón Cárdenas-Robledo, Paula Tagliani, et al.
Neurology. Genetics|March 13, 2026
Clinical Heterogeneity and Candidate Biomarkers in <i>POLG</i>-Related Mitochondrial DiseaseLaura Bermejo-Guerrero, Juan Luis Restrepo-Vera, Paloma Martin-Jimenez, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
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