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International Journal of Molecular Sciences|April 30, 2021
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular DiseasesDèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, et al.
European Journal of Medical Genetics|February 26, 2018
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiencyBeatriz Villafuerte, Daniel Natera-de-Benito, Aidy González, et al.
Frontiers in Neuroscience|February 18, 2022
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic DiseasesJordi Pijuan, Lara Cantarero, Daniel Natera-de Benito, et al.
Frontiers in Bioengineering and Biotechnology|May 13, 2022
Personalized <i>in vitro</i> Extracellular Matrix Models of Collagen VI-Related Muscular DystrophiesEnrico Almici, Vanessa Chiappini, Arístides López-Márquez, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 12, 2021
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersenLaura Carrera-García, Jordi Muchart, Juan José Lazaro, et al.
International Journal of Molecular Sciences|April 13, 2023
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal MicroscopyAnna Codina, Mònica Roldán, Daniel Natera-de Benito, et al.
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.
International Journal of Molecular Sciences|April 23, 2022
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant <i>COL6A1</i> Pathogenic Variant Improves Collagen VI Network in Patient FibroblastsArístides López-Márquez, Matías Morín, Sergio Fernández-Peñalver, et al.
Annals of Clinical and Translational Neurology|May 30, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic SpectrumFlorencia Pérez-Vidarte, Berta Estévez-Arias, Leslie Matalonga, et al.
Journal of Neuromuscular Diseases|April 11, 2023
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with NusinersenSelena Trifunov, Daniel Natera-de Benito, Laura Carrera-García, et al.
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