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Journal of Neurology, Neurosurgery, and Psychiatry|October 26, 2018
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALSHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Neuromuscular Disorders : NMD|January 30, 2022
DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicismAkatsuki Kubota, Hiroyuki Ishiura, Kristine Joyce Linay Porto, et al.
Journal of Human Genetics|December 8, 2025
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletionJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.
Scientific Reports|September 23, 2018
The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophyFumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, et al.
Bioinformatics (Oxford, England)|November 12, 2013
Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencingKoichiro Doi, Taku Monjo, Pham H Hoang, et al.
Frontiers in Neurology|September 5, 2022
Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathyJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.
Cerebellum (London, England)|September 13, 2022
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's DiseaseTakashi Matsukawa, Kristine Joyce L Porto, Jun Mitsui, et al.
Digestive Diseases (Basel, Switzerland)|July 4, 2018
Host MICA Polymorphism as a Potential Predictive Marker in Response to Chemotherapy for Colorectal Liver MetastasesYujiro Nishioka, Junichi Shindoh, Yoshinori Inagaki, et al.
Annals of Clinical and Translational Neurology|November 14, 2025
Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration CasesAkihiko Mitsutake, Masao Osaki, Takashi Matsukawa, et al.
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