Presentation Information
[P1-05-05]A novel p.Gly42Cys SOD1 variant causing ALS with reduced thermal stability, aggregation propensity, and autopsy findings
Utako Nagaoka1, Asuka Funai1,2, Kentaro Kawama1, Kentaro Hayashi1, Kota Bokuda1, Kano Aikawa3, Yoshiaki Furukawa3, Nakamura Ryoichi4, Naoki Atsuta4, Genki Tohnai5, Airi Tarutani7, Masato Hasegawa7, Kenta Masui2,8, Takashi Komori2, Gen Sobue6, Kazushi Takahashi1, Keisuke Ishizawa2,9 (1. Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2. Department of Laboratory Medicine and Pathology (Neuropathology), Tokyo Metropolitan Neurological Hospital, 3. Department of Chemistry, Faculty of Science and Technology, Keio University, 4. Department of Neurology, Aichi Medical University School of Medicine, 5. Division of ALS Research, Aichi Medical University School of Medicine, 6. Aichi Medical University School of Medicine, 7. Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, 8. Department of Integrative Neuroscience, Graduate School of Biomedical Sciences, Nagasaki University, 9. Depatment of Pathology, Saitama Medical University)
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