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Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|July 4, 2024
A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypesHiroya Naruse, Chifumi Iseki, Jun Mitsui, et al.Epilepsia|January 28, 2023
History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the worldSamuel F Berkovic, Pasquale Striano, Shoji TsujiBrain : a Journal of Neurology|May 8, 2012
Inflammatory myopathies associated with anti-mitochondrial antibodiesMeiko Hashimoto Maeda, Shoji Tsuji, Jun ShimizuNeurology. Genetics|October 30, 2025
Frameshift and Copy Number Variants in SACS-Related NeuropathyJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.Internal Medicine (Tokyo, Japan)|August 9, 2023
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher DiseaseNanaka Yamaguchi-Takegami, Akiko Takahashi, Jun Mitsui, et al.Annals of Neurology|January 22, 2022
Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body MyositisChiseko Ikenaga, Hidetoshi Date, Motoi Kanagawa, et al.American Journal of Human Genetics|July 6, 2010
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell linesJun Mitsui, Yuji Takahashi, Jun Goto, et al.Neurology. Genetics|September 3, 2025
Vanishing White Matter Disease With EIF2B2 c.254 >A Variant: Mild Clinical and MRI FindingsToshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.Cerebellum (London, England)|February 3, 2017
Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 MutationsJun Mitsui, Ken Koguchi, Toshimitsu Momose, et al.Journal of Neurology|June 29, 2026
Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth diseaseChikashi Yano, Masahiro Ando, Yujiro Higuchi, et al.Pageof 53