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Annals of Neurology|November 20, 2025
A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift VariantHiroya Naruse, Jun Mitsui, Akatsuki Kubota, et al.Internal Medicine (Tokyo, Japan)|February 15, 2023
The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W MutationNaoki Takegami, Akihiko Mitsutake, Tatsuo Mano, et al.BMC Neurology|February 12, 2021
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case reportKishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, et al.Nitric Oxide : Biology and Chemistry|November 26, 2002
Increased nitric oxide production by neutrophils from patients with chronic granulomatous disease on trimethoprim-sulfamethoxazoleShoji Tsuji, Shoichiro Taniuchi, Masafumi Hasui, et al.Journal of Pediatric Hematology/Oncology|September 1, 2012
Increased production of nitric oxide by phagocytic stimulated neutrophils in patients with chronic granulomatous diseaseShoji Tsuji, Anna Iharada, Shoichiro Taniuchi, et al.Pediatric Nephrology (Berlin, Germany)|June 21, 2012
Methicillin-resistant Staphylococcus aureus-related glomerulonephritis in a childTakahisa Kimata, Shoji Tsuji, Ken Yoshimura, et al.Annals of Neurology|January 26, 2012
Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth diseaseMeiko Hashimoto Maeda, Jun Mitsui, Bing-Wen Soong, et al.Journal of Neurology|February 11, 2025
SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insightsMasahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, et al.Annals of Clinical and Translational Neurology|April 28, 2022
Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in JapanMasahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 6, 2012
CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathyJun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, et al.Pageof 53