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Human Molecular Genetics|July 2, 2013
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesSze Chern Lim, Martin Friemel, Justine E Marum, et al.
Viruses|August 30, 2020
Optimization Rules for SARS-CoV-2 Mpro Antivirals: Ensemble Docking and Exploration of the Coronavirus Protease Active SiteShana V Stoddard, Serena D Stoddard, Benjamin K Oelkers, et al.
Human Mutation|August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathyRocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
Current Biology : CB|January 18, 2025
Symbiosis and horizontal gene transfer promote herbivory in the megadiverse leaf beetlesRoy Kirsch, Yu Okamura, Marleny García-Lozano, et al.
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
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