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Journal of Neuroimmunology|November 5, 2013
Rituximab ameliorates anti-N-methyl-D-aspartate receptor encephalitis by removal of short-lived plasmablastsYasuo Hachiya, Akinori Uruha, Emi Kasai-Yoshida, et al.Epilepsy & Behavior Reports|January 25, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature reviewAtsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, et al.Brain & Development|October 11, 2018
Genetic analysis of undiagnosed ataxia-telangiectasia-like disordersAyako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, et al.Journal of Human Genetics|July 16, 2005
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese populationShweta Singh, Toshimitsu Suzuki, Akira Uchiyama, et al.Journal of Human Genetics|November 13, 2025
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivityAtsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, et al.Frontiers in Neurology|March 29, 2020
Assessment and Rating of Motor Cerebellar Ataxias With the Kinect v2 Depth Sensor: Extending Our AppraisalTakeru Honda, Hiroshi Mitoma, Hirotaka Yoshida, et al.Life (Basel, Switzerland)|August 28, 2025
Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration StudyYuichi Abe, Toshimitsu Hamasaki, Jun Natsume, et al.Journal of Human Genetics|October 11, 2020
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophyMasamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 21, 2024
Evidence-based diagnostic prediction score for pediatric NMDA receptor encephalitisShimpei Matsuda, Takayuki Mori, Mariko Kasai, et al.Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.Pageof 8