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Neuromuscular Disorders : NMD|February 5, 2022
Newborn screening for spinal muscular atrophy: The Wisconsin first year experienceMei W Baker, Sean T Mochal, Sandra J Dawe, et al.Orphanet Journal of Rare Diseases|February 3, 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe diseaseJennifer M Kwon, Dietrich Matern, Joanne Kurtzberg, et al.Biological Psychiatry|September 27, 2005
Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndrome, and epilepsyAnne M Connolly, Michael Chez, Elizabeth M Streif, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2016
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendationAlex R Kemper, Jeffrey Brosco, Anne Marie Comeau, et al.Developmental Medicine and Child Neurology|March 2, 2010
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)Heather R Adams, Christopher A Beck, Erika Levy, et al.Contemporary Clinical Trials|May 1, 2013
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocatesElisabeth A de Blieck, Erika F Augustine, Frederick J Marshall, et al.Muscle & Nerve|May 13, 2016
Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A ProposalJennifer M Kwon, Hoda Z Abdel-Hamid, Samiah A Al-Zaidy, et al.Journal of Neuromuscular Diseases|November 10, 2025
Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerationsCrystal M Proud, Elizabeth A Kichula, Susan E Matesanz, et al.International Journal of Neonatal Screening|April 23, 2024
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn ScreeningMei Lietsch, Kee Chan, Jennifer Taylor, et al.American Journal of Human Genetics|January 25, 2003
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathyKristien Verhoeven, Peter De Jonghe, Katrien Coen, et al.Pageof 7