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The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|April 10, 2003
Dopamine modulates cell cycle in the lateral ganglionic eminenceNobuyo Ohtani, Tomohide Goto, Christian Waeber, et al.
Cureus|March 2, 2026
New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) DeficiencyHiroko Tada, Keiko Ichimoto, Kei Murayama, et al.
JIMD Reports|February 26, 2018
Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case ReportKazushi Ichikawa, Megumi Tsuji, Yu Tsuyusaki, et al.
Molecular Syndromology|June 16, 2022
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar SyndromesNaoto Nishimura, Yumi Enomoto, Tatsuro Kumaki, et al.
Neuropediatrics|March 7, 2020
Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 YearsMegumi Tsuji, Mio Tanaka, Yukichi Tanaka, et al.
Journal of Human Genetics|September 13, 2005
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathyKazuki Kijima, Chikahiko Numakura, Tomohide Goto, et al.
Scientific Reports|July 2, 2025
Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductaseKohei Sunoki, Miyuki Watanabe, Shiho Aoki, et al.
Brain & Development|July 15, 2023
Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathyMegumi Tsuji, Azusa Ikeda, Yu Tsuyusaki, et al.
Clinical and Experimental Nephrology|December 15, 2010
Children with posterior reversible encephalopathy syndrome associated with atypical diffusion-weighted imaging and apparent diffusion coefficientKenji Ishikura, Yuko Hamasaki, Tomoyuki Sakai, et al.
Brain & Development|September 14, 2017
Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1Azusa Ikeda, Sumimasa Yamashita, Yu Tsuyusaki, et al.
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