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Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Gait performance and foot pressure distribution during wearable robot-assisted gait in elderly adults.
- 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
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
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
Ultrasound‐Driven Highly Stable Implantable Triboelectric Nanogenerator with Human‐Tissue Acoustic Impedance‐Matched Polyether Ether Ketone.
- Published in:
- Advanced Materials Technologies, 2024, v. 9, n. 21, p. 1, doi. 10.1002/admt.202400317
- By:
- Publication type:
- Article
Texture analysis using T1-weighted images for muscles in Charcot-Marie-Tooth disease patients and volunteers.
- Published in:
- 2021
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- 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
Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-00819-0
- By:
- Publication type:
- Article
Gait Pattern in Charcot-Marie-Tooth Disease Type 1A According to Disease Severity.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 10, p. 1473, doi. 10.3390/jpm13101473
- By:
- Publication type:
- Article
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-104
- By:
- Publication type:
- Article
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
- Published in:
- 2013
- By:
- Publication type:
- journal 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
Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Development of a Y-STR 12-plex PCR system and haplotype analysis in a Korean population.
- Published in:
- Journal of Genetics, 2009, v. 88, n. 3, p. 353, doi. 10.1007/s12041-009-0053-7
- By:
- Publication type:
- 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
Loss‐of‐function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system.
- Published in:
- Glia, 2020, v. 68, n. 9, p. 1794, doi. 10.1002/glia.23805
- By:
- Publication type:
- Article
Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1870
- By:
- Publication type:
- Article
Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1678
- By:
- Publication type:
- Article
Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1380
- By:
- Publication type:
- Article
Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-21112-8
- By:
- Publication type:
- Article
Clinical and Neuroimaging Features in Charcot–Marie–Tooth Patients with GNB4 Mutations.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 6, p. 494, doi. 10.3390/life11060494
- 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
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
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- 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
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- Publication type:
- Article
An on-demand bioresorbable neurostimulator.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-42791-5
- 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
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- Publication type:
- Article
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
- Published in:
- BMC Neurology, 2015, v. 15, n. 1, p. N.PAG, doi. 10.1186/s12883-015-0430-1
- By:
- Publication type:
- Article
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-105
- By:
- Publication type:
- Article
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.
- Published in:
- 2014
- By:
- Publication type:
- journal article
CEP41‐mediated ciliary tubulin glutamylation drives angiogenesis through AURKA‐dependent deciliation.
- Published in:
- EMBO Reports, 2020, v. 21, n. 2, p. 1, doi. 10.15252/embr.201948290
- By:
- Publication type:
- Article
Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4945, doi. 10.3390/jcm10214945
- By:
- Publication type:
- Article
p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot–Marie–Tooth disease type 1A.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-61794-w
- By:
- Publication type:
- Article
Fibulin 5, a human Wharton's jelly‐derived mesenchymal stem cells‐secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin‐RAC1 signaling axis.
- Published in:
- Stem Cells, 2020, v. 38, n. 12, p. 1578, doi. 10.1002/stem.3287
- By:
- Publication type:
- Article
Proximal Lower-Limb Weakness in Charcot-Marie-Tooth Disease.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1587, doi. 10.1001/jamaneurol.2013.4662
- By:
- Publication type:
- Article
Proximal Dominant Hereditary Motor and Sensory Neuropathy With Proximal Dominance Association With Mutation in the TRK-Fused Gene.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 5, p. 607, doi. 10.1001/jamaneurol.2013.1250
- 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
Safety and Efficacy Assessment of Chungpyesagan-tang for Acute Ischemic Stroke.
- Published in:
- American Journal of Chinese Medicine, 2003, v. 31, n. 2, p. 181, doi. 10.1142/S0192415X03000898
- By:
- Publication type:
- Article
Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A.
- Published in:
- Molecular Medicine Reports, 2020, v. 22, n. 6, p. 4947, doi. 10.3892/mmr.2020.11579
- 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
Overexpression of mutant HSP27 causes axonal neuropathy in mice.
- Published in:
- Journal of Biomedical Science, 2015, v. 22, n. 1, p. 1, doi. 10.1186/s12929-015-0154-y
- By:
- Publication type:
- Article
Overexpression of mutant HSP27 causes axonal neuropathy in mice
- Published in:
- Journal of Biomedical Science, 2015, v. 22, n. 1, p. 43, doi. 10.1186/s12929-015-0154-y
- By:
- Publication type:
- Article
Wearable hip-assist robot modulates cortical activation during gait in stroke patients: a functional near-infrared spectroscopy study.
- Published in:
- 2020
- By:
- Publication type:
- journal article