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American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.Journal of Neurogenetics|May 10, 2021
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.JAMA|March 13, 2014
Clinical interpretation and implications of whole-genome sequencingFrederick E Dewey, Megan E Grove, Cuiping Pan, et al.Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.Plos One|March 29, 2019
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsyAmanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, et al.Molecular Genetics and Metabolism|September 26, 2016
Nutritional interventions in primary mitochondrial disorders: Developing an evidence baseKathryn M Camp, Danuta Krotoski, Melissa A Parisi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, et al.Pageof 14