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Molecular Genetics and Metabolism|May 23, 2022
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, et al.Archives of Neurology|October 11, 2002
Effects of coenzyme Q10 in early Parkinson disease: evidence of slowing of the functional declineClifford W Shults, David Oakes, Karl Kieburtz, et al.American Journal on Intellectual and Developmental Disabilities|November 19, 2020
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical TrialsMelissa Raspa, Carla M Bann, Angela Gwaltney, et al.Molecular Genetics and Metabolism|June 18, 2016
Solid organ transplantation in primary mitochondrial disease: Proceed with cautionSumit Parikh, Amel Karaa, Amy Goldstein, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.Molecular Genetics & Genomic Medicine|March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohortXiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.JCSM Clinical Reports|January 24, 2022
Development of a Mitochondrial Myopathy-Composite Assessment ToolJean Flickinger, Jiaxin Fan, Amanda Wellik, et al.Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society|October 6, 2018
Assessing the Feasibility of Providing a Real-Time Response to Seizures Detected With Continuous Long-Term Neonatal Electroencephalography MonitoringCynthia Sharpe, Suzanne L Davis, Gail E Reiner, et al.Annals of Clinical and Translational Neurology|May 14, 2025
HPDL Variant Type Correlates With Clinical Disease Onset and SeverityEun Hye Lee, Olivia Kim-Mcmanus, Jennifer H Yang, et al.Human Mutation|January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymesJennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.Pageof 5