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International Journal of Molecular Sciences|April 3, 2021
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with NeurodegenerationPaula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, et al.International Journal of Molecular Sciences|November 25, 2023
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar AtrophyDolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, et al.Scientific Reports|December 21, 2023
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional studyFlorencia Epifani, Susana María Pujol Serra, Marta Llorens, et al.Journal of Neurology|January 2, 2021
COVID-19 in children with neuromuscular disordersDaniel Natera-de Benito, Sergio Aguilera-Albesa, Laura Costa-Comellas, et al.Parkinsonism & Related Disorders|October 6, 2020
Delineating the motor phenotype of SGCE-myoclonus dystonia syndromeMaria I Vanegas, Anna Marcé-Grau, Laura Martí-Sánchez, et al.Eclinicalmedicine|June 30, 2022
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective studyVeronica Davalos, Carlos A García-Prieto, Gerardo Ferrer, et al.Ebiomedicine|January 22, 2024
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaHang Lyu, Christian M Boßelmann, Katrine M Johannesen, et al.Parkinsonism & Related Disorders|October 21, 2018
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progressionAlejandra Darling, Sergio Aguilera-Albesa, Cristina Aisha Tello, et al.Neurology|January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationAgatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.Genome Medicine|September 7, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritizationAgatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, et al.Pageof 4