Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

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

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

(2009) Paulien Smits et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

(2009) Dominic J. McMullan et al.   HUMAN MUTATION

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

(2009) P. Isohanni et al.   JOURNAL OF MEDICAL GENETICS

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Electrophoresis techniques to investigate defects in oxidative phosphorylation

(2008) Maria Antonietta Calvaruso et al.   METHODS

The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria

(2008) Md. Emdadul Haque et al.   MITOCHONDRION