Masakazu Kohda

Publication Activity (10 Years)

Years Active: 2016-2021
Publications (10 Years): 4

Top Topics

Mitochondrial Dna

Muscular Dystrophy

Top Venues

Journal of human genetics

Molecular genetics & genomic medicine

Juntendo University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Juntendo University May 01 2017

Japan

Lecturer :: Intractable Disease Research Center

Saitama Medical University Apr 01 2011 - Apr 30 2017

Japan

Assistant Professor :: Research Center for Genomic Medicine

Saitama Medical University Apr 01 2006 - Mar 31 2011

Japan

Researcher :: Research Center for Genomic Medicine

National Institute of Radiological Sciences Apr 01 2002 - Mar 31 2006

Japan

Technical Staff

Publications

Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Takuya Fushimi, Kazuhiro R Nitta, Yukiko Yatsuka, Shinichi Hirose, Hiroshi Ideguchi, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Human mutation 42 (11) (2021)
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Molecular genetics & genomic medicine 8 (10) (2020)
Nurun N Borna, Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Yoshimi Tokuzawa, Masakazu Kohda, Hiromi Nyuzuki, Yzumi Yamashita-Sugahara, Takashi Nasu, Atsuhito Takeda, Kei Murayama, Akira Ohtake, Yasushi Okazaki
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy. Journal of human genetics 62 (5) (2017)
Atsuko Imai, Masakazu Kohda, Akihiro Nakaya, Yasushi Sakata, Kei Murayama, Akira Ohtake, Mark Lathrop, Yasushi Okazaki, Jurg Ott
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families. Journal of human genetics 61 (11) (2016)