Showing results (1-10 of 7) with videos related to
Sort By:
Pageof 1
JIMD Reports|May 26, 2017
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2APatricia L Hall, Regina Laine, John J Alexander, et al.BMJ Case Reports|July 15, 2026
Managing nusinersen therapy during pregnancy in spinal muscular atrophy type 3Leillani L Ha, Caitlin Thomas, Kiersten Pease, et al.Molecular Genetics and Metabolism|July 23, 2018
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelinationLance H Rodan, Wanshu Qi, Gregory S Ducker, et al.Pediatric Neurology|May 31, 2022
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional ApproachElena Madan, Sabrina Carrié, Carolina Donado, et al.Annals of Clinical and Translational Neurology|June 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophyChristine C Bruels, Hannah R Littel, Audrey L Daugherty, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.Pageof 1