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Kohei Hamanaka

Showing results (1-10 of 80) with videos related to

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Med (New York, N.Y.)|May 19, 2022
Refinement of the clinical variant interpretation framework by statistical evidence and machine learningAtsushi Takata, Kohei Hamanaka, Naomichi Matsumoto
Rinsho Shinkeigaku = Clinical Neurology|October 26, 2022
[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene]Kenju Hara, Haruka Ouchi, Kohei Hamanaka, et al.
Frontiers in Genetics|August 1, 2024
Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic <i>MAP2K1</i> variant: a case reportRie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, et al.
Molecular Syndromology|November 23, 2020
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with <i>NEXMIF</i> Mutation: Case ReportMasashi Ogasawara, Eiji Nakagawa, Eri Takeshita, et al.
Cureus|March 17, 2025
A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb WeaknessHironori Mizutani, Yohei Misumi, Kohei Hamanaka, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 6, 2016
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathyYurika Watanabe, Akinori Uruha, Shigeaki Suzuki, et al.
Molecular Genetics & Genomic Medicine|November 26, 2024
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional AnalysisShinji Masuko, Mitsuto Sato, Katsuya Nakamura, et al.
Neurology|January 1, 2017
Sarcoplasmic MxA expression: A valuable marker of dermatomyositisAkinori Uruha, Atsuko Nishikawa, Rie S Tsuburaya, et al.
Journal of Human Genetics|August 15, 2019
Comparison of mitochondrial DNA variants detection using short- and long-read sequencingAhmed N Alkanaq, Kohei Hamanaka, Futoshi Sekiguchi, et al.
Neuromuscular Disorders : NMD|April 11, 2016
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutationsKohei Hamanaka, Kanako Goto, Mami Arai, et al.
Pageof 8

Showing results (1-10 of 80) with videos related to

Sort By:
Pageof 8
Med (New York, N.Y.)|May 19, 2022
Refinement of the clinical variant interpretation framework by statistical evidence and machine learningAtsushi Takata, Kohei Hamanaka, Naomichi Matsumoto
Rinsho Shinkeigaku = Clinical Neurology|October 26, 2022
[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene]Kenju Hara, Haruka Ouchi, Kohei Hamanaka, et al.
Frontiers in Genetics|August 1, 2024
Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic <i>MAP2K1</i> variant: a case reportRie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, et al.
Molecular Syndromology|November 23, 2020
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with <i>NEXMIF</i> Mutation: Case ReportMasashi Ogasawara, Eiji Nakagawa, Eri Takeshita, et al.
Cureus|March 17, 2025
A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb WeaknessHironori Mizutani, Yohei Misumi, Kohei Hamanaka, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 6, 2016
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathyYurika Watanabe, Akinori Uruha, Shigeaki Suzuki, et al.
Molecular Genetics & Genomic Medicine|November 26, 2024
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional AnalysisShinji Masuko, Mitsuto Sato, Katsuya Nakamura, et al.
Neurology|January 1, 2017
Sarcoplasmic MxA expression: A valuable marker of dermatomyositisAkinori Uruha, Atsuko Nishikawa, Rie S Tsuburaya, et al.
Journal of Human Genetics|August 15, 2019
Comparison of mitochondrial DNA variants detection using short- and long-read sequencingAhmed N Alkanaq, Kohei Hamanaka, Futoshi Sekiguchi, et al.
Neuromuscular Disorders : NMD|April 11, 2016
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutationsKohei Hamanaka, Kanako Goto, Mami Arai, et al.
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