Showing results (31-40 of 70) with videos related to

Sort By:
Pageof 7
Nature Communications|June 25, 2024
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1Xinyu Cao, Madryn Lake, Gerd Van der Hoeven, et al.
Acta Neuropathologica Communications|February 13, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndromeAdela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, et al.
Neuromuscular Disorders : NMD|August 22, 2020
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndromeEdna Julieth Bobadilla-Quesada, Daniel Natera-de Benito, Laura Carrera-García, et al.
European Journal of Neurology|July 25, 2022
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' studyJuan F Vázquez-Costa, Mónica Povedano, Andrés E Nascimiento-Osorio, et al.
Orphanet Journal of Rare Diseases|February 12, 2020
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrumRoser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, et al.
European Journal of Neurology|September 1, 2022
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophyJuan F Vázquez-Costa, Mónica Povedano, Andrés E Nascimiento-Osorio, et al.
Annals of Clinical and Translational Neurology|September 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy MimicsGregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, et al.
Pediatric Neurology|June 4, 2024
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New CasesDaniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, et al.
Frontiers in Cell and Developmental Biology|March 27, 2023
Characterization of cardiac involvement in children with LMNA-related muscular dystrophySergi Cesar, Oscar Campuzano, Jose Cruzalegui, et al.
Biomedicines|June 24, 2022
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic DysregulationEmma Koehorst, Renato Odria, Júlia Capó, et al.
Pageof 7