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Annals of Clinical and Translational Neurology|January 18, 2023
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variantsDaniel Natera-de Benito, Jonathan Olival, Carla Garcia-Cabau, et al.Cerebral Cortex (New York, N.Y. : 1991)|May 12, 2016
The Addiction-Related Protein ANKK1 is Differentially Expressed During the Cell Cycle in Neural PrecursorsLaura España-Serrano, Noelia Guerra Martín-Palanco, Ana Montero-Pedrazuela, et al.Human Molecular Genetics|July 18, 2021
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth diseaseCristina Nuevo-Tapioles, Fulvio Santacatterina, Brenda Sánchez-Garrido, et al.The Journal of Molecular Diagnostics : JMD|November 23, 2020
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare DiseasesJordi Pijuan, María Rodríguez-Sanz, Daniel Natera-de Benito, et al.Journal of Neuromuscular Diseases|March 15, 2024
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital MyopathyBerta Estévez-Arias, Leslie Matalonga, Loreto Martorell, et al.International Journal of Molecular Sciences|October 16, 2024
ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN AssemblyLaura Domínguez-Berzosa, Lara Cantarero, María Rodríguez-Sanz, et al.Pediatric Neurology|April 24, 2021
Copper Toxicity Associated With an ATP7A-Related Complex PhenotypeDaniel Natera-de Benito, Abel Sola, Paulo Rego Sousa, et al.Annals of Neurology|February 3, 2004
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementiaJuan J Zarranz, Javier Alegre, Juan C Gómez-Esteban, et al.International Journal of Molecular Sciences|October 16, 2025
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme GenesAlba Pascual, Thaleia Moulka, Oriol de Fàbregues, et al.Annals of Neurology|April 27, 2005
Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1Raquel Ros, Pilar Gómez Garre, Michio Hirano, et al.Pageof 6