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Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica|January 3, 2023
[Data-driven drug discovery for drug repurposing]Ryuta Saito, Naoko Yano, Shinji Kojima, et al.
Neuropediatrics|May 28, 2026
Successful treatment of epileptic spasms with perampanel in a patient with Menkes disease caused by a novel splice variant in intron of ATP7AHiroaki Yoshida, Hidehito Kondo, Naoko Yano, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 2, 2026
Two siblings with Schaaf-Yang syndrome treated with growth hormoneYukiko Hashimoto, Kazutaka Nanba, Yosuke Konishi, et al.
Human Genome Variation|August 21, 2023
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variantsYoshihiro Taura, Takenori Tozawa, Kenichi Isoda, et al.
Human Genome Variation|November 7, 2024
A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8Taro Matsuoka, Takeshi Yoshida, Kengo Kora, et al.
Brain : a Journal of Neurology|July 29, 2025
Aberrant lysosomal dynamics disrupt myogenesis via mTORC1 signalling in X-linked myotubular myopathyKengo Kora, Takeshi Yoshida, Atsushi Yokoyama, et al.
Brain & Development|May 31, 2021
Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous systemKoji Nakajima, Takeshi Yoshida, Kinuko Nishikawa, et al.
Neurology. Genetics|June 4, 2024
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic CausesMutsuo Kouhashi, Kayoko Yukawa, Naoko Yano, et al.
Human Molecular Genetics|January 16, 2023
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathyTakahiro Hayashi, Naoko Yano, Kengo Kora, et al.
Biochemical and Biophysical Research Communications|August 12, 2009
MOV10 as a novel telomerase-associated proteinMariko Nakano, Yasutaka Kakiuchi, Yukiko Shimada, et al.
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