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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.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
World Development|August 25, 2020
COVID-19 and the case for global developmentJohan A Oldekop, Rory Horner, David Hulme, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
Mitochondrial DNA. Part B, Resources|November 15, 2024
Phylogenetic analysis of the complete mitochondrial genome of the orange-winged sulphur butterfly Dercas nina Mell 1913 (Insecta: Lepidoptera: Pieridae: Coliadinae)Arlene M Agcaoili, Nabiha Ameena, Dexter Andres, et al.
Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial diseaseJohan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
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