A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy
Kuroda, Yukiko, Matsufuji, Mayumi, Enomoto, Yumi, Osaka, Hitoshi, Takanashi, Jun‐Ichi, Yamamoto, Toshiyuki, Numata‐Uematsu, Yurika, Tabata, Kenshiro, Kurosawa, Kenji, Inoue, Ken
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
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The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
Katata, Yu, Uneoka, Saki, Saijyo, Naoya, Aihara, Yu, Miyazoe, Takamitsu, Koyamaishi, Shun, Oikawa, Yoshitsugu, Ito, Yuya, Abe, Yu, Numata‐Uematsu, Yurika, Takayama, Jun, Kikuchi, Atsuo, Tamiya, Gen, Uematsu, Mitsugu, Kure, Shigeo
Published in American journal of medical genetics. Part A (01.04.2022)
Published in American journal of medical genetics. Part A (01.04.2022)
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Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS
Takahashi, Yuji, Uchino, Akiko, Shioya, Ayako, Sano, Terunori, Matsumoto, Chihiro, Numata‐Uematsu, Yurika, Nagano, Seiichi, Araki, Toshiyuki, Murayama, Shigeo, Saito, Yuko
Published in Neuropathology (01.08.2019)
Published in Neuropathology (01.08.2019)
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Genomic analysis identifies masqueraders of full‐term cerebral palsy
Takezawa, Yusuke, Kikuchi, Atsuo, Haginoya, Kazuhiro, Niihori, Tetsuya, Numata‐Uematsu, Yurika, Inui, Takehiko, Yamamura‐Suzuki, Saeko, Miyabayashi, Takuya, Anzai, Mai, Suzuki‐Muromoto, Sato, Okubo, Yukimune, Endo, Wakaba, Togashi, Noriko, Kobayashi, Yasuko, Onuma, Akira, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo
Published in Annals of clinical and translational neurology (01.05.2018)
Published in Annals of clinical and translational neurology (01.05.2018)
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Inhibition of collapsin response mediator protein-2 phosphorylation ameliorates motor phenotype of ALS model mice expressing SOD1G93A
Numata-Uematsu, Yurika, Wakatsuki, Shuji, Nagano, Seiichi, Shibata, Megumi, Sakai, Kazuhisa, Ichinohe, Noritaka, Mikoshiba, Katsuhiko, Ohshima, Toshio, Yamashita, Naoya, Goshima, Yoshiro, Araki, Toshiyuki
Published in Neuroscience research (01.02.2019)
Published in Neuroscience research (01.02.2019)
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Journal Article
Attachment Disorder and Early Media Exposure: Neurobehavioral symptoms mimicking autism spectrum disorder
Numata‐Uematsu, Yurika, Yokoyama, Hiroyuki, Sato, Hiroki, Endo, Wakaba, Uematsu, Mitsugu, Nara, Chieko, Kure, Shigeo
Published in The Journal of Medical Investigation (2018)
Published in The Journal of Medical Investigation (2018)
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Journal Article
The Onset of Interictal Spike-Related Ripples Facilitates Detection of the Epileptogenic Zone
Numata-Uematsu, Yurika, Uematsu, Mitsugu, Sakuraba, Rie, Iwasaki, Masaki, Osawa, Shinichiro, Jin, Kazutaka, Nakasato, Nobukazu, Kure, Shigeo
Published in Frontiers in neurology (04.11.2021)
Published in Frontiers in neurology (04.11.2021)
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Journal Article
Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms
Suzuki-Muromoto, Sato, Uematsu, Mitsugu, Sato, Hiroki, Numata-Uematsu, Yurika, Nakayama, Tojo, Kiluchi, Atsuo, Kobayashi, Tomoko, Hino-Fukuyo, Naomi, Kure, Shigeo
Published in No to hattatsu (01.11.2016)
Published in No to hattatsu (01.11.2016)
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Journal Article
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation
Nakamura, Haruhiko, Uematsu, Mitsugu, Numata-Uematsu, Yurika, Abe, Yu, Endo, Wakaba, Kikuchi, Atsuo, Takezawa, Yusuke, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Niihori, Tetsuya, Aoki, Yoko, Haginoya, Kazuhiro, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.05.2018)
Published in Brain & development (Tokyo. 1979) (01.05.2018)
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Journal Article
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
Numata-Uematsu, Yurika, Uematsu, Mitsugu, Yamamoto, Toshiyuki, Saitsu, Hirotomo, Katata, Yu, Oikawa, Yoshitsugu, Saijyo, Naoya, Inui, Takehiko, Murayama, Kei, Ohtake, Akira, Osaka, Hitoshi, Takanashi, Jun-ichi, Kure, Shigeo, Inoue, Ken
Published in Molecular genetics and metabolism reports (01.12.2021)
Published in Molecular genetics and metabolism reports (01.12.2021)
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Journal Article
Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus
Sato, Yuko, Numata-Uematsu, Yurika, Uematsu, Mitsugu, Kikuchi, Atsuo, Nakayama, Tojo, Kakisaka, Yosuke, Kobayashi, Tomoko, Hino-Fukuyo, Naomi, Suzuki, Hiroyoshi, Takahashi, Yukitoshi, Saito, Yoshiaki, Tanuma, Naoyuki, Hayashi, Masaharu, Iwasaki, Masaki, Haginoya, Kazuhiro, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.09.2016)
Published in Brain & development (Tokyo. 1979) (01.09.2016)
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Journal Article
Gingival Pigmentation in a Boy
Nakagawa, Tomohiro, Wada, Yoichi, Miura, Akinobu, Numata-Uematsu, Yurika, Niizuma, Hidetaka, Kure, Shigeo
Published in The Journal of pediatrics (01.07.2021)
Published in The Journal of pediatrics (01.07.2021)
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Journal Article
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor
Uneoka, Saki, Kobayashi, Tomoko, Numata-Uematsu, Yurika, Oikawa, Yoshitsugu, Katata, Yu, Okubo, Yukimune, Abe, Yu, Kikuchi, Atsuo, Takayama, Jun, Tamiya, Gen, Kure, Shigeo, Saito, Kayoko, Uematsu, Mitsugu
Published in Pediatric neurology (01.09.2023)
Published in Pediatric neurology (01.09.2023)
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Journal Article
Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis
Saijo, Naoya, Abe, Yu, Oikawa, Yoshitsugu, Okubo, Yukimune, Endo, Wakaba, Numata-Uematsu, Yurika, Takahashi, Toshiyuki, Uematsu, Mitsugu
Published in Brain & development (Tokyo. 1979) (01.05.2022)
Published in Brain & development (Tokyo. 1979) (01.05.2022)
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Journal Article
Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation
Kirikae, Hinako, Uematsu, Mitsugu, Numata-Uematsu, Yurika, Saijo, Naoya, Katata, Yu, Oikawa, Yoshitsugu, Kikuchi, Atsuo, Yanagi, Kumiko, Kaname, Tadashi, Haginoya, Kazuhiro, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.02.2022)
Published in Brain & development (Tokyo. 1979) (01.02.2022)
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Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics
Akiyama, Mari, Akiyama, Tomoyuki, Saigusa, Daisuke, Hishinuma, Eiji, Matsukawa, Naomi, Shibata, Takashi, Tsuchiya, Hiroki, Mori, Atsushi, Fujii, Yuji, Mogami, Yukiko, Tokorodani, Chiho, Kuwahara, Kozue, Numata-Uematsu, Yurika, Inoue, Kenji, Kobayashi, Katsuhiro
Published in Seizure (London, England) (01.04.2023)
Published in Seizure (London, England) (01.04.2023)
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Journal Article
Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome
Oikawa, Yoshitsugu, Okubo, Yukimune, Numata-Uematsu, Yurika, Aihara, Yu, Kitamura, Taro, Takayanagi, Masaru, Takahashi, Yukitoshi, Kure, Shigeo, Uematsu, Mitsugu
Published in Journal of clinical neuroscience (01.05.2017)
Published in Journal of clinical neuroscience (01.05.2017)
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Journal Article
Trajectories of Healthcare Utilization Among Children and Adolescents With Autism Spectrum Disorder and/or Attention-Deficit/Hyperactivity Disorder in Japan
Aoki, Ai, Niimura, Michi, Kato, Tsuguhiko, Takehara, Kenji, Iida, Junzo, Okada, Takashi, Kurokami, Tsunehiko, Nishimaki, Kengo, Ogura, Kaeko, Okuno, Masakage, Koeda, Tatsuya, Igarashi, Takashi
Published in Frontiers in psychiatry (20.01.2022)
Published in Frontiers in psychiatry (20.01.2022)
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Journal Article
Behavioral problems and family distress in tuberous sclerosis complex
Uematsu, Mitsugu, Numata-Uematsu, Yurika, Aihara, Yu, Kobayashi, Tomoko, Fujikawa, Mayu, Togashi, Noriko, Shiihara, Takashi, Ohashi, Kei, Hattori, Ayako, Saitoh, Shinji, Kure, Shigeo
Published in Epilepsy & behavior (01.10.2020)
Published in Epilepsy & behavior (01.10.2020)
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