Masaru Shimura

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 8

Top Topics

Mitochondrial Dna

Top Venues

Journal of medical case reports

Molecular genetics & genomic medicine

Archives of disease in childhood. Fetal and neonatal edition

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

Publications

Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R Nitta, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Strategic validation of variants of uncertain significance in ECHS1 genetic testing. Journal of medical genetics (2023)
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga, Nana Akiyama, Minako Ogawa-Tominaga, Yukiko Yatsuka, Kazuhiro R Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Imai-Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. Archives of disease in childhood. Fetal and neonatal edition (2021)
Norito Tsutsumi, Shigeo Nishimata, Masaru Shimura, Yasuyo Kashiwagi, Hisashi Kawashima
Hepcidin Levels and Pathological Characteristics in Children with Fatty Liver Disease. Pediatric gastroenterology, hepatology & nutrition 24 (3) (2021)
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)
Yukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, Masaru Shimura, Fumihito Nozaki, Tatsuya Fujii, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, Michael T Ryan, Yasushi Okazaki
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clinical genetics 98 (2) (2020)
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)
Masaru Shimura, Hikari Yamada, Hidekuni Takahashi, Naoto Yamada, Soken Go, Gaku Yamanaka, Hisashi Kawashima
Antiepileptic drug-induced psychosis associated with MTHFR C677T: a case report. Journal of medical case reports 13 (1) (2019)
Rie Chida, Masaru Shimura, Shigeo Nishimata, Yasuyo Kashiwagi, Hisashi Kawashima
Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency. Pediatrics international : official journal of the Japan Pediatric Society 60 (11) (2018)