Characterization of congenital myopathies at a Korean neuromuscular center.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Works by Jin-Hong Shin
Results: 47
1
2
Meralgia paresthetica caused by a pancreatic pseudocyst.
- Published in:
- 2015
- By:
- Publication type:
- journal article
3
Efficacy and safety of Lenzumestrocel (Neuronata-R® inj.) in patients with amyotrophic lateral sclerosis (ALSUMMIT study): study protocol for a multicentre, randomized, double-blind, parallel-group, sham procedure-controlled, phase III trial.
- Published in:
- 2022
- By:
- Publication type:
- journal article
4
Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
5
A case of CSF1R-related leukoencephalopathy: serial neuroimaging and neuropsychological tests.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
6
Early stage memory impairment, visual hallucinations, and myoclonus combined with temporal lobe atrophy predict Alzheimer's disease pathology in corticobasal syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
7
SERCA2a gene transfer improves electrocardiographic performance in aged mdx mice.
- Published in:
- 2011
- By:
- Publication type:
- journal article
8
Neuropsychological, neuroimaging and autopsy findings of butane encephalopathy.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
9
The evolution of heart gene delivery vectors.
- Published in:
- Journal of Gene Medicine, 2011, v. 13, n. 10, p. 557, doi. 10.1002/jgm.1600
- By:
- Publication type:
- Article
10
Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features.
- Published in:
- Korean Journal of Physiology & Pharmacology, 2017, v. 21, n. 4, p. 439, doi. 10.4196/kjpp.2017.21.4.439
- By:
- Publication type:
- Article
11
TRPM7 as a Candidate Gene for Vestibular Migraine.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.595042
- By:
- Publication type:
- Article
12
Longitudinal Changes in Glucose Metabolism of Denervated Muscle after Complete Peripheral Nerve Injury.
- Published in:
- 2016
- By:
- Publication type:
- journal article
13
Isolated unilateral leg weakness as the presenting symptom of primary aldosteronism: a case report.
- Published in:
- Acta Neurologica Belgica, 2015, v. 115, n. 3, p. 501, doi. 10.1007/s13760-014-0381-0
- By:
- Publication type:
- Article
14
An autopsy confirmed case of progressive supranuclear palsy with predominant cerebellar ataxia.
- Published in:
- 2016
- By:
- Publication type:
- Letter
15
Nogo-A regulates myogenesis via interacting with Filamin-C.
- Published in:
- Cell Death Discovery, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41420-020-00384-x
- By:
- Publication type:
- Article
16
Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.
- Published in:
- Frontiers in Neurology, 2020, v. 10, p. 1, doi. 10.3389/fneur.2019.01424
- By:
- Publication type:
- Article
17
Atypical clinical manifestations of Miller Fisher syndrome.
- Published in:
- 2019
- By:
- Publication type:
- journal article
18
Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 8, p. 1393, doi. 10.1007/s10072-015-2157-6
- By:
- Publication type:
- Article
19
Schisandrae fructus enhances myogenic differentiation and inhibits atrophy through protein synthesis in human myotubes.
- Published in:
- International Journal of Nanomedicine, 2016, v. 11, p. 2407, doi. 10.2147/IJN.S101299
- By:
- Publication type:
- Article
20
Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases.
- Published in:
- PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0261007
- By:
- Publication type:
- Article
21
A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.
- Published in:
- Journal of Research in Medical Sciences, 2014, v. 19, n. 8, p. 792
- By:
- Publication type:
- Article
22
NEB-related core-rod myopathy with distinct clinical and pathological features.
- Published in:
- 2016
- By:
- Publication type:
- journal article
23
Genotyping mdx, mdx3cv, and mdx4cv mice by primer competition polymerase chain reaction.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 2, p. 283, doi. 10.1002/mus.21873
- By:
- Publication type:
- Article
24
Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report.
- Published in:
- Neonatal Medicine, 2016, v. 23, n. 3, p. 173, doi. 10.5385/nm.2016.23.3.173
- By:
- Publication type:
- Article
25
A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.
- Published in:
- Scientific Reports, 2015, p. 13003, doi. 10.1038/srep13003
- By:
- Publication type:
- Article
26
Genomic removal of a therapeutic mini-dystrophin gene from adult mice elicits a Duchenne muscular dystrophy-like phenotype.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2633, doi. 10.1093/hmg/ddw123
- By:
- Publication type:
- Article
27
Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5880, doi. 10.1093/hmg/ddv310
- By:
- Publication type:
- Article
28
Characterization of 65 Epitope-Specific Dystrophin Monoclonal Antibodies in Canine and Murine Models of Duchenne Muscular Dystrophy by Immunostaining and Western Blot.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0088280
- By:
- Publication type:
- Article
29
Quantitative Phenotyping of Duchenne Muscular Dystrophy Dogs by Comprehensive Gait Analysis and Overnight Activity Monitoring.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059875
- By:
- Publication type:
- Article
30
Dystrophin Deficiency Compromises Force Production of the Extensor Carpi Ulnaris Muscle in the Canine Model of Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044438
- By:
- Publication type:
- Article
31
iNOS Ablation Does Not Improve Specific Force of the Extensor Digitorum Longus Muscle in Dystrophin- Deficient mdx4cv Mice.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021618
- By:
- Publication type:
- Article
32
P3‐229: THE ASSOCIATION BETWEEN RS5848 POLYMORPHISM AND SERUM PROGRANULIN LEVEL IN NEURODEGENERATIVE DISEASES.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1159, doi. 10.1016/j.jalz.2018.06.1588
- By:
- Publication type:
- Article
33
Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 4, p. 599, doi. 10.1007/s10072-014-2000-5
- By:
- Publication type:
- Article
34
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.
- Published in:
- Neurological Sciences, 2013, v. 34, n. 9, p. 1629, doi. 10.1007/s10072-013-1298-8
- By:
- Publication type:
- Article
35
Nogo-A Is Critical for Pro-Inflammatory Gene Regulation in Myocytes and Macrophages.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 2, p. 282, doi. 10.3390/cells10020282
- By:
- Publication type:
- Article
36
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Report
37
Autophagic defects observed in fibroblasts from a patient with β‐propeller protein‐associated neurodegeneration.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3866, doi. 10.1002/ajmg.a.62442
- By:
- Publication type:
- Article
38
Characteristics of spinal and bulbar muscular atrophy in South Korea: a cross-sectional study of 157 patients.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1083, doi. 10.1093/brain/awac198
- By:
- Publication type:
- Article
39
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.
- Published in:
- Journal of Genetics, 2018, v. 97, n. 5, p. 1479, doi. 10.1007/s12041-018-1024-7
- By:
- Publication type:
- Article
40
Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
41
Microdystrophin Ameliorates Muscular Dystrophy in the Canine Model of Duchenne Muscular Dystrophy.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 4, p. 750, doi. 10.1038/mt.2012.283
- By:
- Publication type:
- Article
42
AAV-microdystrophin Therapy Improves Cardiac Performance in Aged Female mdx Mice.
- Published in:
- Molecular Therapy, 2011, v. 19, n. 10, p. 1826, doi. 10.1038/mt.2011.154
- By:
- Publication type:
- Article
43
Transduction Efficiency and Immune Response Associated With the Administration of AAV8 Vector Into Dog Skeletal Muscle.
- Published in:
- Molecular Therapy, 2009, v. 17, n. 1, p. 73, doi. 10.1038/mt.2008.225
- By:
- Publication type:
- Article
44
Episodic Vestibular Syndrome with Hyperventilation-Induced Downbeat Nystagmus.
- Published in:
- Cerebellum, 2021, v. 20, n. 5, p. 796, doi. 10.1007/s12311-020-01204-9
- By:
- Publication type:
- Article
45
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2.
- Published in:
- Cerebellum, 2014, v. 13, n. 3, p. 411, doi. 10.1007/s12311-014-0547-6
- By:
- Publication type:
- Article
46
Pre- and postsynaptic changes in the neuromuscular junction in dystrophic mice.
- Published in:
- Frontiers in Physiology, 2015, p. 1, doi. 10.3389/fphys.2015.00252
- By:
- Publication type:
- Article
47
Phenotypic variability in Kennedy's disease: implication of the early diagnostic features.
- Published in:
- Acta Neurologica Scandinavica, 2005, v. 112, n. 1, p. 57, doi. 10.1111/j.1600-0404.2005.00428.x
- By:
- Publication type:
- Article