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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseVeronika Boczonadi, Martin S King, Anthony C Smith, et al.Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.American Journal of Human Genetics|September 6, 2014
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyDavid N Herrmann, Rita Horvath, Janet E Sowden, et al.Human Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.Stem Cells (Dayton, Ohio)|November 29, 2019
Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryosLaila Noli, Shirin E Khorsandi, Angela Pyle, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2012
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathyRita Horvath, Elke Holinski-Feder, Vivienne C M Neeve, et al.Brain : a Journal of Neurology|December 21, 2010
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp, Paul M Smith, Angela Pyle, et al.Nature Communications|July 4, 2014
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasiaVeronika Boczonadi, Juliane S Müller, Angela Pyle, et al.American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.Pageof 10