Výsledky vyhledávání - "Harumi, Yoshinaga"

Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness

Autor: Tomoyuki Akiyama, Ryousuke Miyamoto, Harumi Yoshinaga, Katsuhiro Kobayashi, Toshitaka Kawarai, Yoshiyuki Hanaoka, Ryuji Kaji

Publikováno v: Brain and Development. 43:783-788

Background DYT-TOR1A is caused by a GAG deletion in the TOR1A gene. While it usually manifests as early-onset dystonia, its phenotype is extremely diverse, even within one family. Recent reports have revealed that some DYT-TOR1A cases have novel muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::86b6ca0e0cd3abca42376785e6145eeb
https://doi.org/10.1016/j.braindev.2021.03.005

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The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan

Autor: Harumi Yoshinaga, Shin-ichiro Hamano, Hirofumi Komaki, Masakazu Mimaki, Noriko Kojimahara, Jun Natsume, Masaya Kubota, Kuniaki Iyoda, Hideo Sugie, Masaharu Tanaka, Tokiko Fukuda, Shinichi Niijima, Yoshihiro Maegaki, Takuya Tanabe, Hideaki Kanemura, Kenji Sugai

Publikováno v: Brain and Development. 42:28-34

Objective To investigate the effect of guidelines for management of febrile seizures on the clinical practice, we conducted a nationwide survey in Japan. Methods The Japanese guidelines for management of febrile seizures 2015 (GL2015) was released in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9fcfe7a8a5fc06807f0e7d0cc5446ea
https://doi.org/10.1016/j.braindev.2019.08.009

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Assessment of the long-term efficacy and safety of adjunctive perampanel in adolescent patients with epilepsy: Post hoc analysis of open-label extension studies

Autor: J. Eric Piña-Garza, Vicente Villanueva, William Rosenfeld, Harumi Yoshinaga, Anna Patten, Manoj Malhotra

Publikováno v: Epilepsy & behavior : E&B
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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This post hoc analysis of four open-label extension (OLEx) studies evaluated the long-term efficacy and safety of adjunctive perampanel in adolescent patients (aged 12 to ≤17 years) with focal-onset seizures (FOS), with/without focal to bilateral t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a4a0acbef5bae58403f2171619923d
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16998

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A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Autor: Hiroki Kurahashi, Morimasa Ohse, Harumi Yoshinaga, Tomoyuki Akiyama, Hiroki Tsuchiya, Takema Kato, Katsuhiro Kobayashi, Tomiko Kuhara, Yasuhiro Maeda, Yoko Nakajima

Publikováno v: Brain and Development. 41:280-284

Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variabil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a982a3d06b784f87f3a71b97c64c0a
https://doi.org/10.1016/j.braindev.2018.10.005

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Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy

Autor: Naoto Ueno, Shin-ichi Horike, Masayuki Itoh, Hongmei Dai, Shin Nabatame, John Gonzalez, Harumi Yoshinaga, Makiko Meguro-Horike, Yoshihiro Maegaki, Shin Okazaki, Yoko Ota, Yu-ichi Goto, Hisashi Kawawaki, Ichiro Kuki, Shuichi Shimakawa, Yoichi Kato, Yoshikazu Kitami, Tetsuya Okazaki

Publikováno v: Brain. 142:560-573

The leukodystrophies cause severe neurodevelopmental defects from birth and follow an incurable and progressive course that often leads to premature death. It has recently been reported that abnormalities in aminoacyl t-RNA synthetase (ARS) genes are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2367f2db4c7f18ea092d2928fdc4482
https://doi.org/10.1093/brain/awz001

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Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan

Autor: Harumi Yoshinaga, Kuriko Kagitani-Shimono, Masataka Yonemura, Hiroko Ikeda, Yasuhiro Suzuki, Makoto Aoki, Masae Endo, Masaya Kubota, Masashi Mizuguchi

Publikováno v: Brain and Development. 41:1-10

Background Epilepsy and autism spectrum disorder (ASD) are the common neurological manifestations of tuberous sclerosis complex (TSC). EXIST-3 study has recently demonstrated that everolimus reduces seizures in patients with TSC and refractory epilep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e38eaea9b399c2ded4148331a5746b
https://doi.org/10.1016/j.braindev.2018.07.003

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A Phase 3 open-label study of the efficacy, safety and pharmacokinetics of buccally administered midazolam hydrochloride for the treatment of status epilepticus in pediatric Japanese subjects

Autor: Harumi Yoshinaga, Alan R. Kugler, Shinichi Takeda, Martha Fournier, Arturo Benitez

Publikováno v: Epilepsy research. 174

Background In Japan, intravenous (IV) administration of antiepileptic drugs in a healthcare setting is the preferred treatment option that is both licensed and recommended for initial treatment of status epilepticus (SE). However, prompt conveyance t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8907a2dcbace555a1ec76194e43514
https://pubmed.ncbi.nlm.nih.gov/34020149

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