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Journal of Human Genetics|January 27, 2017
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathyNurun N Borna, Yoshihito Kishita, Kaori Ishikawa, et al.
Plos Genetics|July 15, 2010
Id4, a new candidate gene for senile osteoporosis, acts as a molecular switch promoting osteoblast differentiationYoshimi Tokuzawa, Ken Yagi, Yzumi Yamashita, et al.
Annals of Clinical and Translational Neurology|October 31, 2014
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disordersNatsumi Uehara, Masato Mori, Yoshimi Tokuzawa, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Plos Genetics|January 8, 2016
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesMasakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
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