Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The effect of small molecules on nuclear-encoded translation diseases

(2013) Devorah Soiferman et al.   BIOCHIMIE

First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics

(2013) Hazel H Szeto   BRITISH JOURNAL OF PHARMACOLOGY

l-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders

(2013) Graziela S. Ribas et al.   GENE

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Mechanisms of mitochondrial diseases

(2011) Emil Ylikallio et al.   ANNALS OF MEDICINE

Human diseases with impaired mitochondrial protein synthesis

(2011) Agnès Rötig   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Toward genotype phenotype correlations in GFM1 mutations

(2011) Louise Galmiche et al.   MITOCHONDRION

The Drosophila Mitochondrial Translation Elongation Factor G1 Contains a Nuclear Localization Signal and Inhibits Growth and DPP Signaling

(2011) Catherine Trivigno et al.   PLoS One

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

(2010) John P. Kemp et al.   BRAIN

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

(2010) Paulien Smits et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome

(2008) Matthias Elstner et al.   MOLECULAR BIOTECHNOLOGY

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY

Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease

(2007) Fernando Scaglia et al.   MUSCLE & NERVE