Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65

(2013) Hiroyuki Kogure et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

(2012) Stephan Klebe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

(2012) Haruo Shimazaki et al.   JOURNAL OF MEDICAL GENETICS

Evolution and Diversification of the Organellar Release Factor Family

(2012) Isabel Duarte et al.   MOLECULAR BIOLOGY AND EVOLUTION

Structural Basis for the Rescue of Stalled Ribosomes: Structure of YaeJ Bound to the Ribosome

(2012) M. G. Gagnon et al.   SCIENCE

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

(2010) Hana Antonicka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Terminating human mitochondrial protein synthesis: A shift in our thinking

(2010) Robert N. Lightowlers et al.   RNA Biology