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Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.Cell Metabolism|March 1, 2016
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon MetabolismJoni Nikkanen, Saara Forsström, Liliya Euro, et al.The Lancet. Neurology|August 9, 2011
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic studyAnu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, et al.Nature Communications|November 24, 2020
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial diseasePhilipp Gut, Sanna Matilainen, Jesse G Meyer, et al.American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.Open Biology|November 9, 2018
Phosphorylation of Parkin at serine 65 is essential for its activation in vivoThomas G McWilliams, Erica Barini, Risto Pohjolan-Pirhonen, et al.Annals of Clinical and Translational Neurology|August 11, 2020
Neuronal intranuclear inclusion disease is genetically heterogeneousZhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, et al.Journal of Medical Genetics|April 1, 2018
Retrospective natural history of thymidine kinase 2 deficiencyCaterina Garone, Robert W Taylor, Andrés Nascimento, et al.Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.Pageof 16