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Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
- Published in:
- 2016
- By:
- Publication type:
- Letter
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
- Published in:
- 2015
- By:
- Publication type:
- journal 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
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
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
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- 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
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 7, p. 349
- By:
- Publication type:
- Article
The correlations between BRCA1 defect and environmental factors in the risk of breast cancer.
- Published in:
- Journal of Toxicological Sciences, 2013, v. 38, n. 3, p. 355, doi. 10.2131/jts.38.355
- By:
- Publication type:
- Article
Application of differentiated human tonsil-derived stem cells to trembler-J mice.
- Published in:
- 2018
- By:
- Publication type:
- journal article
COUP‐TFII plays a role in cAMP‐induced Schwann cell differentiation and in vitro myelination by up‐regulating Krox20.
- Published in:
- Journal of Neurochemistry, 2023, v. 165, n. 5, p. 660, doi. 10.1111/jnc.15764
- By:
- Publication type:
- 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
Correction: PINK1 alleviates thermal hypersensitivity in a paclitaxel-induced Drosophila model of peripheral neuropathy.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Regulatory role of osteopontin in malignant transformation of endometrial cancer.
- Published in:
- Molecular Biology Reports, 2013, v. 40, n. 5, p. 3623, doi. 10.1007/s11033-012-2436-8
- 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
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
PINK1 alleviates thermal hypersensitivity in a paclitaxel-induced Drosophila model of peripheral neuropathy.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0239126
- By:
- Publication type:
- Article
Inhibition of checkpoint kinase 2 ( CHK2) enhances sensitivity of pancreatic adenocarcinoma cells to gemcitabine.
- Published in:
- Journal of Cellular & Molecular Medicine, 2013, v. 17, n. 10, p. 1261, doi. 10.1111/jcmm.12101
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- Publication type:
- Article
p53-mediated regulation of mitochondrial dynamics plays a pivotal role in the senescence of various normal cells as well as cancer cells.
- Published in:
- FASEB Journal, 2021, v. 35, n. 2, p. 1, doi. 10.1096/fj.202002007R
- 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
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 4, p. 3362, doi. 10.3892/mmr.2016.5664
- By:
- Publication type:
- Article
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 1, p. 33, doi. 10.3892/mmr.2016.5209
- By:
- Publication type:
- Article
A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.
- Published in:
- Molecular Medicine Reports, 2015, v. 11, n. 4, p. 2729, doi. 10.3892/mmr.2014.3047
- By:
- Publication type:
- Article
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
- Published in:
- Molecular Medicine Reports, 2014, v. 9, n. 2, p. 481, doi. 10.3892/mmr.2013.1808
- By:
- Publication type:
- Article
Null variants in DYSF result in earlier symptom onset.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 396, doi. 10.1111/cge.13887
- 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
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Transcriptional control of motor pool formation and motor circuit connectivity by the LIM-HD protein Isl2.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.84596
- By:
- Publication type:
- Article
A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Long-term expression of the human glucocerebrosidase gene in vivo after transplantation of bone-marrow-derived cells transformed with a lentivirus vector.
- Published in:
- Journal of Gene Medicine, 2005, v. 7, n. 7, p. 878, doi. 10.1002/jgm.732
- By:
- Publication type:
- Article
PINK1 and Parkin Ameliorate the Loss of Motor Activity and Mitochondrial Dysfunction Induced by Peripheral Neuropathy-Associated HSPB8 Mutants in Drosophila Models.
- Published in:
- Biomedicines, 2023, v. 11, n. 3, p. 832, doi. 10.3390/biomedicines11030832
- By:
- Publication type:
- Article
HER2 confers drug resistance of human breast cancer cells through activation of NRF2 by direct interaction.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep07201
- By:
- Publication type:
- Article
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
- Published in:
- Human Mutation, 2016, v. 37, n. 5, p. 473, doi. 10.1002/humu.22959
- By:
- Publication type:
- Article
Hepatitis B virus: DNA polymerase activity of deletion mutants.
- Published in:
- IUBMB Life, 1999, v. 47, n. 2, p. 301, doi. 10.1080/15216549900201323
- By:
- Publication type:
- Article
Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations.
- Published in:
- International Journal of Molecular Medicine, 2019, v. 44, n. 1, p. 125, doi. 10.3892/ijmm.2019.4178
- By:
- Publication type:
- Article
Detoxification: A Novel Function of BRCA1 in Tumor Suppression?
- Published in:
- Toxicological Sciences, 2011, v. 122, n. 1, p. 26, doi. 10.1093/toxsci/kfr089
- By:
- Publication type:
- Article
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-125
- By:
- Publication type:
- Article
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005829
- By:
- Publication type:
- Article