Kei Murayama

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 11

Top Venues

Orphanet journal of rare diseases

Brain communications

Molecular genetics & genomic medicine

European heart journal. Case reports

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

Publications

Eleonora Manzoni, Sara Carli, Pauline Gaignard, Lea Dewi Schlieben, Michio Hirano, Dario Ronchi, Emmanuel Gonzales, Masaru Shimura, Kei Murayama, Yasushi Okazaki, Ivo Barić, Danijela Petkovic Ramadza, Daniela Karall, Johannes Mayr, Diego Martinelli, Chiara La Morgia, Guido Primiano, René Santer, Serenella Servidei, Céline Bris, Aline Cano, Francesca Furlan, Serena Gasperini, Nolwenn Laborde, Costanza Lamperti, Dominic Lenz, Michelangelo Mancuso, Vincenzo Montano, Francesca Menni, Olimpia Musumeci, Victoria Nesbitt, Elena Procopio, Cécile Rouzier, Christian Staufner, Jan-Willem Taanman, Galit Tal, Chiara Ticci, Duccio Maria Cordelli, Valerio Carelli, Vincent Procaccio, Holger Prokisch, Caterina Garone
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome. Brain communications 6 (3) (2024)
Eleonora Manzoni, Sara Carli, Pauline Gaignard, Lea Dewi Schlieben, Michio Hirano, Dario Ronchi, Emmanuel Gonzales, Masaru Shimura, Kei Murayama, Yasushi Okazaki, Ivo Barić, Danijela Petkovic Ramadza, Daniela Karall, Johannes Mayr, Diego Martinelli, Chiara La Morgia, Guido Primiano, René Santer, Serenella Servidei, Céline Bris, Aline Cano, Francesca Furlan, Serena Gasperini, Nolwenn Laborde, Costanza Lamperti, Dominic Lenz, Michelangelo Mancuso, Vincenzo Montano, Francesca Menni, Olimpia Musumeci, Victoria Nesbitt, Elena Procopio, Cécile Rouzier, Christian Staufner, Jan-Willem Taanman, Galit Tal, Chiara Ticci, Duccio Maria Cordelli, Valerio Carelli, Vincent Procaccio, Holger Prokisch, Caterina Garone
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome. Brain communications 6 (3) (2024)
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)
Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie-Thérèse Abi Warde, Elise Schaefer, Volker M Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Annals of neurology (2022)
Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama, Kei Murayama
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia. Orphanet journal of rare diseases 17 (1) (2022)
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)
Yuji Maruo, Yuki Ueda, Kei Murayama, Atsuhito Takeda
A case report of Leigh syndrome diagnosed by endomyocardial biopsy. European heart journal. Case reports 5 (2) (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)
Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito, Akinari Fukuda, Jun Murakami, Shunsaku Kaji, Mureo Kasahara, Kazuo Shiraki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. Orphanet journal of rare diseases 15 (1) (2020)
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)

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Publication Activity (10 Years)

Top Topics

Top Venues

Kei Murayama