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BMC Bioinformatics|May 26, 2026
Mito_Plot: open-source pipeline for quantification and visualization of mitochondrial DNA heteroplasmyKohta Nakamura, Naoyuki Matsumoto, Yasushi OkazakiMitochondrion|May 13, 2026
Distinct mitochondrial-derived vesicle pathways connect mitochondria with peroxisomes and lysosomesAyumu Sugiura, Kohta Nakamura, Heidi M McBride, et al.Journal of Clinical Laboratory Analysis|December 16, 2025
Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational AnalysisFeng Jiang, Ayumu Sugiura, Yoshihito Kishita, et al.Mitochondrion|September 11, 2025
Mitochondrial DNA variants in normal skins: Insights into prevalent pathogenic variants and quality control surveillanceKohta Nakamura, Yasunari Sato, Masao Hashimoto, et al.Neurologia Medico-Chirurgica|December 7, 2025
Neurorehabilitation with Transcranial Magnetic Stimulation and Peripheral Magnetic Stimulation for Post-stroke Motor Recovery: A Three-arm Randomized Controlled TrialTakamitsu Yamamoto, Sadahiro Maejima, Chikashi Fukaya, et al.Liver International : Official Journal of the International Association for the Study of the Liver|November 7, 2024
Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion SyndromeYoshihito Kishita, Ayumu Sugiura, Nanako Omichi, et al.Journal of Human Genetics|July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunctionKohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.Neurology. Genetics|December 17, 2025
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA SequencingKohta Nakamura, Yoshihito Kishita, Ayumu Sugiura, et al.HGG Advances|June 10, 2026
Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrierKohta Nakamura, Atsuko Okazaki, Daisuke Motooka, et al.Molecular Genetics & Genomic Medicine|January 16, 2025
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic AnalysisKohta Nakamura, Yukiko Yatsuka, Sachie Naito, et al.Pageof 2