Mitochondrial disease—an important cause of end-stage renal failure

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

(2012) Jenni M. Elo et al.   HUMAN MOLECULAR GENETICS

Mitochondrial tRNAPhe mutation as a cause of end-stage renal disease in childhood

(2012) Kristin E. D’Aco et al.   PEDIATRIC NEPHROLOGY

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

(2011) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure

(2011) Vanessa Vedrenne et al.   JOURNAL OF HEPATOLOGY

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Renal involvement in mitochondrial cytopathies

(2011) Francesco Emma et al.   PEDIATRIC NEPHROLOGY

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

(2010) T. Honzik et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity

(2010) Tim M. Young et al.   ARCHIVES OF NEUROLOGY

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

(2010) John K. Blackwood et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

(2010) Z.M.A. Chrzanowska-Lightowlers et al.   NEUROMUSCULAR DISORDERS

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

(2009) S Rahman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE