Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

(2012) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Toward a mtDNA locus-specific mutation database using the LOVD platform

(2012) Joanna L. Elson et al.   HUMAN MUTATION

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

(2012) John W. Yarham et al.   MITOCHONDRION

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Mechanisms of mitochondrial diseases

(2011) Emil Ylikallio et al.   ANNALS OF MEDICINE

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

(2011) Tsutomu Suzuki et al.   Annual Review of Genetics

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

(2011) Elena J. Tucker et al.   Cell Metabolism

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

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

Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene

(2011) X. Yan et al.   JOURNAL OF MEDICAL GENETICS

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

(2011) J. Uusimaa et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Catherine Glatz et al.   MITOCHONDRION

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups

(2010) Anita Kloss-Brandstätter et al.   HUMAN MUTATION

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Mitochondrial tRNA mutations and disease

(2010) John W. Yarham et al.   Wiley Interdisciplinary Reviews-RNA

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

(2009) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?

(2009) Joanna L. Elson et al.   HUMAN MUTATION

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAVal causing MNGIE-like gastrointestinal dysmotility and cachexia

(2009) Rita Horváth et al.   JOURNAL OF NEUROLOGY

Identification of novel mutations in five patients with mitochondrial encephalomyopathy

(2008) Lucia Valente et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation

(2008) Takahiro Iizuka et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES