Compound Heterozygote Mutation of <i>C12orf65</i> Causes Distal Motor Neuropathy and Optic Atrophy.

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

Hana Antonická, Elsebet Østergaard, Florin Sasarman et al. · The American Journal of Human Genetics · 2010 · 160 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +12

A homozygous mutation of <i>C12orf65</i> causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

Haruo Shimazaki, Yoshihisa Takiyama, Hiroyuki Ishiura et al. · Journal of Medical Genetics · 2012 · 85 citations

Life Sciences, Genetics, Neurology +17

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Arianna Tucci, Liu Yt, Elisavet Preza et al. · Journal of Neurology Neurosurgery & Psychiatry · 2013 · 47 citations · Full text

Life Sciences, Genetics, Neurology +17

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

Ronen Spiegel, Hanna Mandel, Ann Saada et al. · European Journal of Human Genetics · 2014 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Hiroyuki Kogure, Yusuke Hikawa, Mamoru Hagihara et al. · Proteins Structure Function and Bioinformatics · 2012 · 32 citations

Life Sciences, Biochemistry, Molecular Biology +14