Showing results (141-150 of 166) with videos related to
Sort By:
Pageof 17
Annals of Neurology|November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiencySacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.EMBO Molecular Medicine|May 3, 2021
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like diseaseKalliopi Sofou, Kolja Meier, Leslie E Sanderson, et al.Journal of Inherited Metabolic Disease|August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare diseaseLaura A Adang, Lars Schlotawa, Samuel Groeschel, et al.The New England Journal of Medicine|September 13, 2018
Trial of Fingolimod versus Interferon Beta-1a in Pediatric Multiple SclerosisTanuja Chitnis, Douglas L Arnold, Brenda Banwell, et al.Science Advances|April 15, 2022
Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegenerationAnna V Luebben, Daniel Bender, Stefan Becker, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 6, 2020
Effect of fingolimod on MRI outcomes in patients with paediatric-onset multiple sclerosis: results from the phase 3 PARADIGMS studyDouglas L Arnold, Brenda Banwell, Amit Bar-Or, et al.Multiple Sclerosis (Houndmills, Basingstoke, England)|July 8, 2020
Temporal profile of lymphocyte counts and relationship with infections with fingolimod therapy in paediatric patients with multiple sclerosis: Results from the PARADIGMS studyTanuja Chitnis, Brenda Banwell, Lauren Krupp, et al.Neuromuscular Disorders : NMD|June 26, 2007
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)Olga Koop, Anja Schirmacher, Eva Nelis, et al.Acta Neuropathologica|March 29, 2019
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher diseaseSina K Stumpf, Stefan A Berghoff, Andrea Trevisiol, et al.American Journal of Human Genetics|January 17, 2012
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasminPeter Huppke, Cornelia Brendel, Vera Kalscheuer, et al.Pageof 17