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The American Journal of Pathology|November 13, 2017
Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral SclerosisMikiko Tada, Hiroshi Doi, Shigeru Koyano, et al.
Journal of the Neurological Sciences|August 1, 2020
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathiesMisako Kunii, Hiroshi Doi, Shunta Hashiguchi, et al.
Neuroscience Research|November 1, 2019
Proteomic analysis of exosome-enriched fractions derived from cerebrospinal fluid of amyotrophic lateral sclerosis patientsNoriko Hayashi, Hiroshi Doi, Yoichi Kurata, et al.
Journal of Neurology|April 21, 2021
Association between neurosarcoidosis with autonomic dysfunction and anti-ganglionic acetylcholine receptor antibodiesMakoto Oishi, Akihiro Mukaino, Misako Kunii, et al.
Journal of Human Genetics|February 6, 2015
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutationMisako Kunii, Hiroshi Doi, Yuichi Higashiyama, et al.
Journal of Human Genetics|July 1, 2026
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populationsKatsuki Eguchi, Satoko Miyatake, Asako Takei, et al.
Alzheimer'S & Dementia (New York, N. Y.)|September 11, 2024
Anti-epileptic drug use and subsequent degenerative dementia occurrenceNaoki Ikegaya, Honoka Nakamura, Yutaro Takayama, et al.
Journal of Human Genetics|February 19, 2020
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVASHaruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, et al.
Journal of Human Genetics|June 12, 2023
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegiasHiromi Fukuda, Takeshi Mizuguchi, Hiroshi Doi, et al.
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