Kei Murayama

23PUBLICATIONS
88CO-AUTHORS
Gene mappingMedical molecular engineering of nucleic acids and proteinsDevelopmental genetics (incl. sex determination)Major global burdens of diseaseMedical infection agents (incl. prions)
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Publications (23)

|Dec 17, 2025
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.

Kohta Nakamura, Yoshihito Kishita, Ayumu Sugiura

|Nov 25, 2025
Mitochondrial Nephropathy With m.5538G>A Mutation Within the tRNA-Trp Region Assessed by Mitochondrial Function Analysis: A Case Report.

Mari Ikeda, Toshiyuki Imasawa, Takafumi Akanuma

|Nov 21, 2025
Fontaine progeroid syndrome with neonatal mitochondrial disease.

Mitsuhiko Riko, Daiki Kawamoto, Kentaro Hirayama

|Nov 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben

|Oct 23, 2025
Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly.

Mizuki Harada, Takanori Onuki, Hiromi Nyuzuki

|Jul 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Takanori Onuki, Makiko Tajika, Yohei Sugiyama

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Frequent Collaborators

13 joint publications

Yasushi Okazaki

9 joint publications

Akira Ohtake

8 joint publications

Yukiko Yatsuka

7 joint publications

Yoshihito Kishita