Found: 106
Select item for more details and to access through your institution.
A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot-Marie-Tooth disease type 1A.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
- Published in:
- 2016
- By:
- Publication type:
- letter
Age-related differences in muscle co-activation during locomotion and their relationship with gait speed: a pilot study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Application of differentiated human tonsil-derived stem cells to trembler-J mice.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Pilot study of pegylated interferon alpha-2a treatment during chemo- and radiotherapy and post-remission maintenance in patients with EBV-positive extranodal NK/T cell lymphoma.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Gait performance and foot pressure distribution during wearable robot-assisted gait in elderly adults.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Efficient data labeling strategies for automated muscle segmentation in lower leg MRIs of Charcot-Marie-Tooth disease patients.
- Published in:
- PLoS ONE, 2024, v. 19, n. 9, p. 1, doi. 10.1371/journal.pone.0310203
- By:
- Publication type:
- Article
Texture analysis using T1-weighted images for muscles in Charcot-Marie-Tooth disease patients and volunteers.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 191, doi. 10.3233/JND-230174
- By:
- Publication type:
- Article
INF2 mutations in patients with a broad phenotypic spectrum of Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 1, p. 108, doi. 10.1111/jns.12530
- By:
- Publication type:
- Article
Variants of aminoacyl‐tRNA synthetase genes in Charcot‐Marie‐Tooth disease: A Korean cohort study.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 1, p. 38, doi. 10.1111/jns.12476
- By:
- Publication type:
- Article
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family.
- Published in:
- Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 60, doi. 10.1111/jns.12249
- By:
- Publication type:
- Article
Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH.
- Published in:
- Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 200, doi. 10.1111/jns.12223
- By:
- Publication type:
- Article
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
- Published in:
- Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 172, doi. 10.1111/jns.12217
- By:
- Publication type:
- Article
X-linked Charcot-Marie-Tooth disease type 6 ( CMTX6) patients with a p. R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 45, doi. 10.1111/jns.12160
- By:
- Publication type:
- Article
Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 2, p. 103, doi. 10.1038/jhg.2014.102
- By:
- Publication type:
- Article
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3
- By:
- Publication type:
- Article
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
- Published in:
- Neurogenetics, 2014, v. 15, n. 3, p. 171, doi. 10.1007/s10048-014-0405-1
- By:
- Publication type:
- Article
Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 51, doi. 10.1007/s10048-010-0272-3
- By:
- Publication type:
- Article
Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.
- Published in:
- Neurogenetics, 2010, v. 11, n. 4, p. 425, doi. 10.1007/s10048-010-0246-5
- By:
- Publication type:
- Article
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 10, p. 936, doi. 10.1007/s10038-008-0333-8
- By:
- Publication type:
- Article
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 4, p. 360, doi. 10.1007/s10038-008-0249-3
- By:
- Publication type:
- Article
Mutations of KCNJ2 gene associated with Andersen–Tawil syndrome in Korean families.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 3, p. 280, doi. 10.1007/s10038-006-0100-7
- By:
- Publication type:
- Article
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5171, doi. 10.1093/hmg/ddu240
- By:
- Publication type:
- Article
HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation.
- Published in:
- Stem Cells International, 2016, p. 1, doi. 10.1155/2016/9475981
- By:
- Publication type:
- Article
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2114, doi. 10.1093/brain/awae017
- By:
- Publication type:
- Article
TGFβ4 alleviates the phenotype of Charcot–Marie–Tooth disease type 1A.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3608, doi. 10.1093/brain/awad147
- By:
- Publication type:
- Article
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2393, doi. 10.3390/ijms19082393
- By:
- Publication type:
- Article
Tonsil-Derived Mesenchymal Stem Cells Differentiate into a Schwann Cell Phenotype and Promote Peripheral Nerve Regeneration.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 11, p. 1867, doi. 10.3390/ijms17111867
- By:
- Publication type:
- Article
Age-Related Locomotion Characteristics in Association with Balance Function in Young, Middle-Aged, and Older Adults.
- Published in:
- Journal of Aging & Physical Activity, 2017, v. 25, n. 2, p. 247, doi. 10.1123/japa.2015-0325
- By:
- Publication type:
- Article
Self‐Powered Electrical Bandage Based on Body‐Coupled Energy Harvesting.
- Published in:
- Advanced Materials, 2024, v. 36, n. 32, p. 1, doi. 10.1002/adma.202402491
- By:
- Publication type:
- Article
HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell‐Based Model of Charcot‐Marie‐Tooth Disease (Type 2D).
- Published in:
- Advanced Biology, 2022, v. 6, n. 2, p. 1, doi. 10.1002/adbi.202101308
- By:
- Publication type:
- Article
HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell‐Based Model of Charcot‐Marie‐Tooth Disease (Type 2D) (Adv. Biology 2/2022).
- Published in:
- Advanced Biology, 2022, v. 6, n. 2, p. 1, doi. 10.1002/adbi.202270021
- By:
- Publication type:
- Article
p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1292, doi. 10.1002/acn3.50828
- By:
- Publication type:
- Article
NanoIEA: A Nanopatterned Interdigitated Electrode Array‐Based Impedance Assay for Real‐Time Measurement of Aligned Endothelial Cell Barrier Functions (Adv. Healthcare Mater. 2/2024).
- Published in:
- Advanced Healthcare Materials, 2024, v. 13, n. 2, p. 1, doi. 10.1002/adhm.202470012
- By:
- Publication type:
- Article
NanoIEA: A Nanopatterned Interdigitated Electrode Array‐Based Impedance Assay for Real‐Time Measurement of Aligned Endothelial Cell Barrier Functions.
- Published in:
- Advanced Healthcare Materials, 2024, v. 13, n. 2, p. 1, doi. 10.1002/adhm.202301124
- By:
- Publication type:
- Article
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 485, doi. 10.3390/genes15040485
- By:
- Publication type:
- Article
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1219, doi. 10.3390/genes13071219
- By:
- Publication type:
- Article
Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 462, doi. 10.3390/genes13030462
- By:
- Publication type:
- Article
Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy.
- Published in:
- Yonsei Medical Journal, 2014, v. 55, n. 3, p. 676, doi. 10.3349/ymj.2014.55.3.676
- By:
- Publication type:
- Article
Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6378, doi. 10.3390/ijms25126378
- By:
- Publication type:
- Article
Impact of radiation on immune cells in patients with low-grade brain tumor: Identifying critical factors affecting lymphopenia and neutrophil-to-lymphocyte ratio.
- Published in:
- Radiation Oncology Journal, 2023, v. 41, n. 2, p. 120, doi. 10.3857/roj.2022.00668
- By:
- Publication type:
- Article
Muscle fat quantification using magnetic resonance imaging: case–control study of Charcot–Marie–Tooth disease patients and volunteers.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2019, v. 10, n. 3, p. 574, doi. 10.1002/jcsm.12415
- By:
- Publication type:
- Article
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 2, p. 150, doi. 10.1111/cge.14523
- By:
- Publication type:
- Article
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 6, p. 460, doi. 10.1111/ahg.12134
- By:
- Publication type:
- Article
Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52643-2
- By:
- Publication type:
- Article
Comprehensive Analysis to Improve the Validation Rate for Single Nucleotide Variants Detected by Next-Generation Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086664
- By:
- Publication type:
- Article