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

Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

(2012) Giorgina Barbara Piccoli et al.   BMC Nephrology

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

(2011) John W. Yarham et al.   HUMAN MUTATION

Mutation in the mitochondrial tRNAVal causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

(2011) Catherine Glatz et al.   MITOCHONDRION

Renal involvement in mitochondrial cytopathies

(2011) Francesco Emma et al.   PEDIATRIC NEPHROLOGY

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

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

(2009) Charlotte L. Alston et al.   NEUROMUSCULAR DISORDERS

A familial case of mitochondrial disease resembling Alport syndrome

(2008) Hayahiko Fujii et al.   Clinical and Experimental Nephrology

Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case–control study

(2008) P. Massin et al.   DIABETOLOGIA

Renal function and mitochondrial cytopathy (MC): more questions than answers?

(2008) A.M. Hall et al.   QJM-AN INTERNATIONAL JOURNAL OF MEDICINE