Showing results (1-10 of 7) with videos related to
Sort By:
Pageof 1
Orphanet Journal of Rare Diseases|July 27, 2025
Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen databaseMatthew R Scott, Albert Misko, Yang Liu, et al.Neuroscience Letters|May 9, 2021
Progress in elucidating pathophysiology of mucolipidosis IVAlbert Misko, Levi Wood, Kirill Kiselyov, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 26, 2010
Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complexAlbert Misko, Sirui Jiang, Iga Wegorzewska, et al.Molecular Therapy. Methods & Clinical Development|June 9, 2025
Exploring human plasma proteomic variations in mucolipidosis type IVBrendan R Tobin, Albert Misko, Victoria Miller-Browne, et al.Disease Models & Mechanisms|June 27, 2020
Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IVMolly Mepyans, Livia Andrzejczuk, Jahree Sosa, et al.Human Molecular Genetics|April 6, 2021
MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IVSamantha DeRosa, Monica Salani, Sierra Smith, et al.Journal of Inherited Metabolic Disease|April 17, 2024
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficienciesBernd C Schwahn, Francjan van Spronsen, Albert Misko, et al.Pageof 1