Masakazu Kohda

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita et al. · PLoS Genetics · 2016 · 293 citations · Full text

Mitochondrial Dysfunction, Genetics, Genetic Epidemiology +18

Constitutively Activated ALK2 and Increased SMAD1/5 Cooperatively Induce Bone Morphogenetic Protein Signaling in Fibrodysplasia Ossificans Progressiva

Toru Fukuda, Masakazu Kohda, Kazuhiro Kanomata et al. · Journal of Biological Chemistry · 2008 · 203 citations · Full text

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon et al. · Brain · 2017 · 157 citations · Full text

Engineering, Mitochondrial Dysfunction, Genetics +22

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach et al. · The American Journal of Human Genetics · 2014 · 152 citations · Full text

Deficiency of <scp>ECHS</scp>1 causes mitochondrial encephalopathy with cardiac involvement

Tobias B. Haack, Christopher B. Jackson, Kei Murayama et al. · Annals of Clinical and Translational Neurology · 2015 · 116 citations · Full text