Works matching DE "CHARCOT-Marie-Tooth disease"
Results: 1329
Charcot-Marie-Tooth Disease: a United States Army soldier.
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- World Council of Enterostomal Therapists Journal, 2018, v. 38, n. 2, p. 24
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- Article
Abstracts from the 2012 WCET Congress Adelaide Australia: diabetic foot neuropathy.
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- 2013
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- Abstract
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
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- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
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- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Article
Anesthesia for cesarean section in a parturient with Charcot–Marie–Tooth disease: unresolved controversies.
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- 2010
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- Letter
Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.
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- Acta Neuropathologica, 2013, v. 126, n. 1, p. 93, doi. 10.1007/s00401-013-1133-6
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- Article
Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.
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- Acta Neuropathologica, 2013, v. 125, n. 2, p. 257, doi. 10.1007/s00401-012-1063-8
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- Article
Crystal structure of the dynamin tetramer.
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- Nature, 2015, v. 525, n. 7569, p. 404, doi. 10.1038/nature14880
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- Article
Utilization of orthoses and assistive devices among a national sample of lower limb orthosis users.
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- Journal of Rehabilitation & Assistive Technologies Engineering, 2024, p. 1, doi. 10.1177/20556683241260891
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- Article
Acupuncture dans les douleurs myofasciales des neurodystrophies musculaires : quels effets?
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- Acupuncture & Moxibustion (1633-3454), 2020, v. 19, n. 1, p. 37
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- Article
Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.
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- 2025
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- Case Study
Certification of a Pilot with Charcot-Marie-Tooth Disease.
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- Aerospace Medicine & Human Performance, 2021, v. 92, n. 2, p. 124, doi. 10.3357/AMHP.5711.2021
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- Article
Sac1-Vps74 structure reveals a mechanism to terminate phosphoinositide signaling in the Golgi apparatus.
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- Journal of Cell Biology, 2014, v. 206, n. 4, p. 485, doi. 10.1083/jcb.201404041
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- Article
Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking.
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- Journal of Cell Biology, 2012, v. 199, n. 5, p. 799, doi. 10.1083/jcb.201204137
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- Article
In This Issue.
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- Journal of Cell Biology, 2012, v. 199, n. 5, p. 714
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- Article
Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant.
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- Journal of Cell Biology, 2009, v. 185, n. 6, p. 939, doi. 10.1083/jcb.200803153
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- Article
The downside of microtubule stability.
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- Journal of Cell Biology, 2009, v. 185, n. 6, p. 930, doi. 10.1083/jcb.1856iti1
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- Article
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.
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- Journal of Cell Biology, 2007, v. 176, n. 4, p. 405, doi. 10.1083/jcb.200611080
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- Article
Pro-diversity mitofusins.
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- Journal of Cell Biology, 2007, v. 176, n. 4, p. 373, doi. 10.1083/jcb.1764iti3
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- Article
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1.
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- Journal of Neurogenetics, 2024, v. 38, n. 4, p. 184, doi. 10.1080/01677063.2024.2428949
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- Article
SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.
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- Journal of Neurogenetics, 2024, v. 38, n. 2, p. 35, doi. 10.1080/01677063.2024.2374898
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- Article
Detection of Copy Number Variation by SNP-Allelotyping.
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- Journal of Neurogenetics, 2015, v. 29, n. 1, p. 4, doi. 10.3109/01677063.2014.923884
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- Article
Phenotypic Variability in a Large Czech Family with a Dynamin 2 - Associated Charcot-Marie-Tooth Neuropathy.
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- Journal of Neurogenetics, 2012, v. 26, n. 2, p. 252, doi. 10.3109/01677063.2012.646556
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- Article
Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy.
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- Journal of Neurogenetics, 2011, v. 25, n. 4, p. 182, doi. 10.3109/01677063.2011.627484
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- Article
An Axon Regeneration Signature in a Charcot-Marie-Tooth Disease Type 2 Patient.
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- Journal of Neurogenetics, 2009, v. 23, n. 3, p. 324, doi. 10.1080/01677060802447585
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- Article
Charcot Foot Diagnosis - Still an Issue?
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- Medicina Moderna, 2018, v. 25, n. 3, p. 94
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Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study.
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- Neuroepidemiology, 2020, v. 54, n. 4, p. 313, doi. 10.1159/000505815
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- Article
Acute neurotoxicity following vincristine due to Charcot–Marie–Tooth disease in a young child with medulloblastoma.
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- Neuro-Oncology Practice, 2019, v. 6, n. 3, p. 179, doi. 10.1093/nop/npz002
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- Article
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01043-z
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- Article
A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum.
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- 2023
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- Case Study
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 12, p. 1616, doi. 10.3390/brainsci11121616
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- Article
Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 11, p. 1447, doi. 10.3390/brainsci11111447
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- Article
Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 202, doi. 10.3390/brainsci11020202
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- Article
Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 24, doi. 10.3390/brainsci11010024
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- Article
Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 7, p. 407, doi. 10.3390/brainsci10070407
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- Article
Regulation of Endosomal Trafficking by Rab7 and Its Effectors in Neurons: Clues from Charcot–Marie–Tooth 2B Disease.
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- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1399, doi. 10.3390/biom13091399
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- Article
Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.
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- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101382
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- Article
Case Studies of Transcranial Electrical Motor Evoked Potentials (TCeMEP) on Patients with Charcot-Marie-Tooth Disease during Posterior Spinal Instrumentation and Fusion.
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- Neurodiagnostic Journal, 2015, v. 55, n. 2, p. 97, doi. 10.1080/21646821.2015.1043221
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- Article
Enlarged Brachial Plexus Nerve Found During Ultrasound-Guided Peripheral Nerve Block Diagnosed as Charcot-Marie-Tooth Disease: A Case Report.
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- Local & Regional Anesthesia, 2020, v. 13, p. 141, doi. 10.2147/LRA.S270189
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- Article
Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement.
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- Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/841897
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- Article
Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient.
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- Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/243652
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- Article
Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.
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- 2013
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- Publication type:
- Report
Salivary cortisol, 17β-estradiol, progesterone, dehydroepiandrosterone, and α-amylase in patients with burning mouth syndrome.
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- Oral Diseases, 2012, v. 18, n. 6, p. 613, doi. 10.1111/j.1601-0825.2012.01937.x
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- Article
Keratocystic odontogenic tumors and Carnoy's solution: results and complications assessment.
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- Oral Diseases, 2012, v. 18, n. 6, p. 548, doi. 10.1111/j.1601-0825.2012.01907.x
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- Article
Auditory function in Charcon-Marie-Tooth disease: case report.
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- Journal of Hearing Science, 2022, v. 12, n. 1, p. 151
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- Article
The potential role of the cABR in assessment of normal hearing adults with inherited neuropathies.
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- Journal of Hearing Science, 2017, v. 7, n. 2, p. 44
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- Article
Fontan Failure Secondary to Charcot-Marie-Tooth–Induced Phrenic Neuropathy.
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- 2018
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- Case Study
Use of 3D Volume Rendering Based on High-Resolution Computed Tomography Temporal Bone in Patients with Cochlear Implants.
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- American Journal of Case Reports, 2019, v. 20, p. 184, doi. 10.12659/AJCR.914514
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- Article
Gait parameters as tools for analyzing phenotypic alterations of a mouse model of Charcot-Marie-Tooth disease.
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- Animal Cells & Systems, 2021, v. 25, n. 1, p. 11, doi. 10.1080/19768354.2021.1880967
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- Article
FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
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- Genes, 2024, v. 15, n. 10, p. 1344, doi. 10.3390/genes15101344
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- Article