A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis

Authors: Okubo, Yukimune, Miyabayashi, Takuya, Sato, Ryo, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Haginoya, Kazuhiro

Source: Brain & development. 44(10):748-752

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Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature

Authors: Shibuya, Moriei, Togashi, Noriko, Inui, Takehiko, Okubo, Yukimune, Endo, Wakaba, Miyabayashi, Takuya, Sato, Ryo, Takezawa, Yusuke, Kodama, Kaori, Ikeda, Miki

Source: Tohoku journal of experimental medicine. 258(1):49-54

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN630633550&indx=1&recIds=ETOCRN630633550

Two cases of persistent falcine and occipital sinuses

Authors: Inui, Takehiko, Shibuya, Moriei, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Togashi, Noriko, Shimanuki, Yoshihisa, Mori, Harushi, Haginoya, Kazuhiro

Source: Brain & development. 43(1):170-173

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Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2

Authors: Inui, Takehiko, Iwama, Kazuhiro, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Togashi, Noriko, Kakisaka, Yosuke, Kikuchi, Atsuo, Mizuguchi, Takeshi, Kure, Shigeo, Matsumoto, Naomichi, Haginoya, Kazuhiro

Source: In European Journal of Medical Genetics March 2020 63(3)

Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

Authors: Togashi, Noriko, Fujita, Atsushi, Shibuya, Moriei, Uneoka, Saki, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Jin, Kazutaka, Matsumoto, Naomichi, Haginoya, Kazuhiro

Source: Brain & development. 42(9):696-699

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117799262.0x000001&indx=1&recIds=ETOCvdc_100117799262.0x000001

Phenotype–genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

Authors: Endo, Wakaba, Ikemoto, Satoru, Togashi, Noriko, Miyabayashi, Takuya, Nakajima, Erika, Hamano, Shin-ichiro, Shibuya, Moriei, Sato, Ryo, Takezawa, Yusuke, Okubo, Yukimune, Inui, Takehiko, Kato, Mitsuhiro, Sengoku, Toru, Ogata, Kazuhiro, Hamanaka, Kohei, Mizuguchi, Takeshi, Miyatake, Satoko, Nakashima, Mitsuko, Matsumoto, Naomichi, Haginoya, Kazuhiro

Source: Brain & development. 42(2):199-204

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097016278.0x000001&indx=1&recIds=ETOCvdc_100097016278.0x000001

[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome

Authors: Haginoya, Kazuhiro, Togashi, Noriko, Kaneta, Tomohiro, Hino-Fukuyo, Naomi, Ishitobi, Mamiko, Kakisaka, Yosuke, Uematsu, Mitsugu, Inui, Takehiko, Okubo, Yukimune, Sato, Ryo, Miyabayashi, Takuya, Arai, Akira, Ogiwara, Ikuo, Mazaki, Emi, Yamakawa, Kazuhiro, Iinuma, Kazuhie, Kure, Shigeo

Source: In Epilepsy Research November 2018 147:9-14

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

Authors: Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Nagai, Koki, Yamamura-Suzuki, Saeko, Anzai, Mai, Takezawa, Yusuke, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Kikuchi, Atsuo, Niihori, Tetsuya, Aoki, Yoko, Kure, Shigeo, Haginoya, Kazuhiro

Source: Journal of human genetics. 64(5):499-504

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131596890.0x000001&indx=1&recIds=ETOCvdc_100131596890.0x000001

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

Authors: Miyabayashi, Takuya, Ochiai, Tatsuhiro, Suzuki, Naoki, Aoki, Masashi, Inui, Takehiko, Okubo, Yukimune, Sato, Ryo, Togashi, Noriko, Takashima, Hiroshi, Ishiura, Hiroyuki, Tsuji, Shoji, Koh, Kishin, Takiyama, Yoshihisa, Haginoya, Kazuhiro

Source: Journal of human genetics. 64(2):171-176

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103849932.0x000001&indx=1&recIds=ETOCvdc_100103849932.0x000001

High-risk screening for Gaucher disease in patients with neurological symptoms

Authors: Momosaki, Ken, Kido, Jun, Matsumoto, Shirou, Yoshida, Shinichiro, Takei, Atsuko, Miyabayashi, Takuya, Sugawara, Keishin, Endo, Fumio, Nakamura, Kimitoshi

Source: Journal of human genetics. 63(6):717-721

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125123349.0x000001&indx=1&recIds=ETOCvdc_100125123349.0x000001

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Authors: Suzuki-Muromoto, Sato, Wakusawa, Keisuke, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Kato, Atsuko, Oba, Hiroshi, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi, Haginoya, Kazuhiro

Source: Journal of human genetics. 63(6):749-753

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125123435.0x000001&indx=1&recIds=ETOCvdc_100125123435.0x000001

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

Authors: Takeguchi, Ryo, Haginoya, Kazuhiro, Uchiyama, Yuri, Fujita, Atsushi, Nagura, Michiaki, Takeshita, Eri, Inui, Takehiko, Okubo, Yukimune, Sato, Ryo, Miyabayashi, Takuya, Togashi, Noriko, Saito, Takashi, Nakagawa, Eiji, Sugai, Kenji, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi, Sasaki, Masayuki

Source: Brain & development. 40(8):728-732

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100096871401.0x000001&indx=1&recIds=ETOCvdc_100096871401.0x000001

A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation

Authors: Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Togashi, Noriko, Sato, Ryo, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro

Source: Brain & development. 40(4):334-338

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100057665434.0x000001&indx=1&recIds=ETOCvdc_100057665434.0x000001

Reduced efficacy of perampanel in patients with severe motor and intellectual disabilities syndrome and drug-resistant epilepsy: A single-center analysis from Japan

Authors: Togashi, Noriko, Inui, Takehiko, Okubo, Yukimune, Endo, Wakaba, Shibuya, Moriei, Miyabayashi, Takuya, Sato, Ryo, Kodama, Kaori, Ikeda, Miki, Haginoya, Kazuhiro

Source: Epilepsy research. 177

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155623025.0x000001&indx=1&recIds=ETOCvdc_100155623025.0x000001

Water intoxication: A clue to the presence of classical Fabry disease

Authors: Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Yanagisawa, Hiroko, Eto, Yoshikatsu, Haginoya, Kazuhiro

Source: Brain & development. 44(8):592-593

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193692222.0x000001&indx=1&recIds=ETOCvdc_100193692222.0x000001

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Leucine-485 deletion variant of BRAFmay exhibit the severe end of the clinical spectrum of CFC syndrome

Authors: Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Nagai, Koki, Yamamura-Suzuki, Saeko, Anzai, Mai, Takezawa, Yusuke, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Kikuchi, Atsuo, Niihori, Tetsuya, Aoki, Yoko, Kure, Shigeo, Haginoya, Kazuhiro

Source: Journal of Human Genetics; May 2019, Vol. 64 Issue: 5 p499-504, 6p

A novel homozygous mutation of the TFGgene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

Authors: Miyabayashi, Takuya, Ochiai, Tatsuhiro, Suzuki, Naoki, Aoki, Masashi, Inui, Takehiko, Okubo, Yukimune, Sato, Ryo, Togashi, Noriko, Takashima, Hiroshi, Ishiura, Hiroyuki, Tsuji, Shoji, Koh, Kishin, Takiyama, Yoshihisa, Haginoya, Kazuhiro

Source: Journal of Human Genetics; February 2019, Vol. 64 Issue: 2 p171-176, 6p