Search Results - "Kora, Kengo"

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy by Hayashi, Takahiro, Yano, Naoko, Kora, Kengo, Yokoyama, Atsushi, Maizuru, Kanako, Kayaki, Taisei, Nishikawa, Kinuko, Osawa, Mitsujiro, Niwa, Akira, Takenouchi, Toshiki, Hijikata, Atsushi, Shirai, Tsuyoshi, Suzuki, Hisato, Kosaki, Kenjiro, Saito, Megumu K, Takita, Junko, Yoshida, Takeshi

“…Graphical abstract Abstract Membrane fusion is mediated by soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins. During…”
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Inflammatory neuropathology of infantile Alexander disease: A case report by Kora, Kengo, Kato, Takeo, Ide, Minako, Tanaka, Takayuki, Yoshida, Tomokatsu

“…Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein. In a mouse model of AxD,…”
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Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system by Nakajima, Koji, Yoshida, Takeshi, Nishikawa, Kinuko, Kora, Kengo, Yokoyama, Atsushi, Yano, Naoko, Hayashi, Takahiro, Takaori, Toru, Sasaki, Saeko, Maizuru, Kanako, Kikuchi, Takayuki, Takita, Junko

“…Primary angiitis of the central nervous system (PACNS) is a newly-emerging disease, and it is known that early diagnosis with treatment is important for the…”
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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 by Matsuoka, Taro, Yoshida, Takeshi, Kora, Kengo, Yano, Naoko, Taura, Yoshihiro, Nakamura, Takashi, Tozawa, Takenori, Mori, Jun, Chiyonobu, Tomohiro

“…Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The…”
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Ketogenic Diet Therapy for Intractable Epilepsy in Infantile Alexander Disease: A Small Case Series and Analyses of Astroglial Chemokines and Proinflammatory Cytokines by Hamada, Shu, Kato, Takeo, Kora, Kengo, Kawaguchi, Tatsuya, Okubo, Tenshin, Ide, Minako, Tanaka, Takayuki, Yoshida, Tomokatsu, Sakakibara, Takafumi

“…•The effect of ketogenic diet therapy on intractable epilepsy in infantile Alexander disease has not well characterized.•In all the cases, ketogenic diet…”
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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome by Yano, Naoko, Chong, Pin Fee, Kojima, Kenji K, Miyoshi, Tomoichiro, Luqman-Fatah, Ahmad, Kimura, Yu, Kora, Kengo, Kayaki, Taisei, Maizuru, Kanako, Hayashi, Takahiro, Yokoyama, Atsushi, Ajiro, Masahiko, Hagiwara, Masatoshi, Kondo, Teruyuki, Kira, Ryutaro, Takita, Junko, Yoshida, Takeshi

“…SINE-VNTR-Alu (SVA) retrotransposons move from one genomic location to another in a 'copy-and-paste' manner. They continue to move actively and cause monogenic…”
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A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes by Kouhashi, Mutsuo, Yukawa, Kayoko, Yano, Naoko, Hagemeijer, Marne C, Hirata, Shinya, Kambe, Daisuke, Yokoyama, Atsushi, Yoshida, Akira, Kora, Kengo, de Ronde, Corline J, Vrieswijk, Sandrien, van der Meijden, Eric, Yoshida, Takeshi, Yamashita, Hirofumi

“…The causes of intellectual disability (ID) are varied, with as many as 1,400 causative genes. We attempted to identify the causative gene in a patient with…”
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Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system by Nakajima, Koji, Yoshida, Takeshi, Nishikawa, Kinuko, Kora, Kengo, Yokoyama, Atsushi, Yano, Naoko, Hayashi, Takahiro, Takaori, Toru, Sasaki, Saeko, Maizuru, Kanako, Kikuchi, Takayuki, Takita, Junko

“…BACKGROUNDPrimary angiitis of the central nervous system (PACNS) is a newly-emerging disease, and it is known that early diagnosis with treatment is important…”
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