Found: 26
Select item for more details and to access through your institution.
Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 7, p. 405, doi. 10.1038/jhg.2014.41
- By:
- Publication type:
- Article
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
- Published in:
- Rheumatology, 2017, v. 56, n. 2, p. 287, doi. 10.1093/rheumatology/kew386
- By:
- Publication type:
- Article
Colorectal endoscopic mucosal resection with submucosal injection of epinephrine versus hypertonic saline in patients taking antithrombotic agents: propensity-score-matching analysis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Brain structural changes in alternating hemiplegia of childhood using single‐case voxel‐based morphometry analysis.
- Published in:
- International Journal of Developmental Neuroscience, 2023, v. 83, n. 7, p. 665, doi. 10.1002/jdn.10295
- By:
- Publication type:
- Article
Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 437, p. 1, doi. 10.1126/scitranslmed.aan0713
- By:
- Publication type:
- Article
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Performance of the NIRS fast scanning system for heavy-ion radiotherapy.
- Published in:
- Medical Physics, 2010, v. 37, n. 11, p. 5672, doi. 10.1118/1.3501313
- By:
- Publication type:
- Article
Moving target irradiation with fast rescanning and gating in particle therapy.
- Published in:
- Medical Physics, 2010, v. 37, n. 9, p. 4874, doi. 10.1118/1.3481512
- By:
- Publication type:
- Article
Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2393, doi. 10.1002/acn3.51235
- By:
- Publication type:
- Article
A phase I study of TAS‐205 in patients with Duchenne muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 11, p. 1338, doi. 10.1002/acn3.651
- By:
- Publication type:
- Article
Childhood‐onset cerebellar ataxia in Japan: A questionnaire‐based survey.
- Published in:
- Brain & Behavior, 2019, v. 9, n. 10, p. N.PAG, doi. 10.1002/brb3.1392
- By:
- Publication type:
- Article
High Cost of Hospitalization for Colonic Diverticular Bleeding Depended on Repeated Bleeding and Blood Transfusion: Analysis with Diagnosis Procedure Combination Data in Japan.
- Published in:
- Digestion, 2017, v. 96, n. 2, p. 76, doi. 10.1159/000478256
- By:
- Publication type:
- Article
Higher Frequency of Reflux Symptoms and Acid-Related Dyspepsia in Women than Men Regardless of Endoscopic Esophagitis: Analysis of 3,505 Japanese Subjects Undergoing Medical Health Checkups.
- Published in:
- Digestion, 2016, v. 93, n. 4, p. 266, doi. 10.1159/000445713
- By:
- Publication type:
- Article
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 4, p. 232, doi. 10.1159/000510172
- By:
- Publication type:
- Article
CO<sub>2</sub>-sensitive tRNA modification associated with human mitochondrial disease.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04250-4
- By:
- Publication type:
- Article
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 12, p. 2360, doi. 10.1002/acn3.51925
- By:
- Publication type:
- Article
Publisher Correction: Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review.
- Published in:
- Pediatric Reports, 2022, v. 14, n. 4, p. 386, doi. 10.3390/pediatric14040046
- By:
- Publication type:
- Article
Systemic administration of the antisense oligonucleotide NS‐089/NCNP‐02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinical trial.
- Published in:
- Neuropsychopharmacology Reports, 2023, v. 43, n. 2, p. 277, doi. 10.1002/npr2.12335
- By:
- Publication type:
- Article
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0078-2
- By:
- Publication type:
- Article
Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy.
- Published in:
- PLoS ONE, 2019, v. 14, n. 12, p. 1, doi. 10.1371/journal.pone.0222876
- By:
- Publication type:
- Article
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 1, p. 111, doi. 10.1111/dmcn.14666
- By:
- Publication type:
- Article
Whole genome sequencing of 45 Japanese patients with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1468, doi. 10.1002/ajmg.a.62138
- By:
- Publication type:
- Article
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1100, doi. 10.1002/ajmg.a.36881
- By:
- Publication type:
- Article
Evaluating the frequency and characteristics of seizures in 142 Japanese patients with prader-willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2052, doi. 10.1002/ajmg.a.36015
- By:
- Publication type:
- Article