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Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 4, p. 2759, doi. 10.1007/s10072-021-05646-9
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- Publication type:
- Article
The relationship between anogenital distance and the efficacy of varicocele repair.
- Published in:
- BJU International, 2012, v. 110, n. 11c, p. E927, doi. 10.1111/j.1464-410X.2012.11154.x
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- Publication type:
- Article
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5110, doi. 10.1093/brain/awad258
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- Publication type:
- Article
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3826, doi. 10.1093/brain/awad095
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- Publication type:
- Article
Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
- Published in:
- 2021
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- Publication type:
- journal article
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
- Published in:
- 2021
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- Publication type:
- journal article
Reply: The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Reply: The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?
- Published in:
- 2018
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- Publication type:
- Letter
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
- Published in:
- 2018
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- Publication type:
- journal article
A human cellular model to study peripheral myelination and demyelinating neuropathies.
- Published in:
- 2017
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- Publication type:
- journal article
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
- Published in:
- 2014
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- Publication type:
- journal article
Distribution of PLP and P<sub>0</sub> mRNA during Rat Peripheral Nerve Development.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 605, n. 1, p. 375, doi. 10.1111/j.1749-6632.1990.tb42417.x
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- Article
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.61119
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- Publication type:
- Article
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/496053
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- Publication type:
- Article
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/239167
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- Publication type:
- Article
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).
- Published in:
- 2011
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- Publication type:
- Abstract
A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle.
- Published in:
- EMBO Journal, 2022, v. 41, n. 5, p. 1, doi. 10.15252/embj.2021108899
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- Publication type:
- Article
Vitamin A controls epithelial/mesenchymal interactions through Ret expression.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 74, doi. 10.1038/83792
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- Publication type:
- Article
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.930435
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- Publication type:
- Article
Update on Charcot-Marie-Tooth Disease.
- Published in:
- Current Neurology & Neuroscience Reports, 2011, v. 11, n. 1, p. 78, doi. 10.1007/s11910-010-0158-7
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- Publication type:
- Article
A molecular basis for hereditary motor and sensory neuropathy disorders.
- Published in:
- Current Neurology & Neuroscience Reports, 2001, v. 1, n. 1, p. 77, doi. 10.1007/s11910-001-0079-6
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- Publication type:
- Article
Satisfaction with ankle foot orthoses in individuals with Charcot‐Marie‐Tooth disease.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 1, p. 40, doi. 10.1002/mus.27027
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- Publication type:
- Article
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
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- 2018
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- Publication type:
- journal article
Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.
- Published in:
- 2018
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- Publication type:
- journal article
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
- Published in:
- 2017
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- Publication type:
- journal article
Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.
- Published in:
- 2016
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- Publication type:
- journal article
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
- Published in:
- 2015
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- Publication type:
- journal article
Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.
- Published in:
- 2015
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- Publication type:
- journal article
Prospective study of muscle cramps in Charcot-Marie-Tooth disease.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 485, doi. 10.1002/mus.24333
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- Publication type:
- Article
Genetic testing practices for Charcot-Marie-Tooth type 1A disease.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 4, p. 478, doi. 10.1002/mus.23991
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- Publication type:
- Article
Inherited neuropathies: Clinical overview and update.
- Published in:
- Muscle & Nerve, 2013, v. 48, n. 4, p. 604, doi. 10.1002/mus.23775
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- Publication type:
- Article
Anterior tibialis cmap amplitude correlations with impairment in CMT1A.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 4, p. 493, doi. 10.1002/mus.23614
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- Publication type:
- Article
Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.
- Published in:
- 2000
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- Publication type:
- journal article
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 5, p. 735, doi. 10.1007/s00415-009-5401-2
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- Publication type:
- Article
Electrodiagnostic Findings in CMTX: A Disorder of the Schwann Cell and Peripheral Nerve Myelin.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 504, doi. 10.1111/j.1749-6632.1999.tb08622.x
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- Publication type:
- Article
Introduction to the Third International Symposium on Charcot-Marie-Tooth Disorders.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. xiii, doi. 10.1111/j.1749-6632.1999.tb08559.x
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- Publication type:
- Article
Regulation of Myelin-Specific Gene Expression: Relevance to CMT1.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 91, doi. 10.1111/j.1749-6632.1999.tb08572.x
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- Publication type:
- Article
Overcoming Cellular Immunity to Prolong Adenoviral-Mediated Gene Expression in Sciatic Nerve.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 397, doi. 10.1111/j.1749-6632.1999.tb08601.x
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- Publication type:
- Article
Correlation between Weakness and Axonal Loss in Patients with CMT1A.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 490, doi. 10.1111/j.1749-6632.1999.tb08618.x
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- Publication type:
- Article
Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 351, doi. 10.1111/j.1749-6632.1999.tb08597.x
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- Publication type:
- Article
The Absence of Myelin P<sub>0</sub> Protein Produces a Novel Molecular Phenotype in Schwann Cell.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 281, doi. 10.1111/j.1749-6632.1999.tb08590.x
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- Publication type:
- Article
Disorders of Pulmonary Function, Sleep, and the Upper Airway in Charcot-Marie-Tooth Disease.
- Published in:
- Lung, 2007, v. 185, n. 1, p. 1, doi. 10.1007/s00408-006-0053-9
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- Publication type:
- Article
Conduction Block in PMP22 Deficiency.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 2, p. 600, doi. 10.1523/JNEUROSCI.4264-09.2010
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- Publication type:
- Article
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
- Published in:
- Nature, 2007, v. 448, n. 7149, p. 68, doi. 10.1038/nature05876
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- Publication type:
- Article
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 6, p. 645, doi. 10.1001/jamaneurol.2016.0171
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- Publication type:
- Article
High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 8, p. 981, doi. 10.1001/jamaneurol.2013.3178
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- Publication type:
- Article
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2.
- Published in:
- NeuroMolecular Medicine, 2020, v. 22, n. 1, p. 68, doi. 10.1007/s12017-019-08564-4
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- Publication type:
- Article
Therapeutic strategies for the inherited neuropathies.
- Published in:
- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 255, doi. 10.1385/NMM:8:1-2:255
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- Publication type:
- Article
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3551
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- Publication type:
- Article
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 7, p. 2032, doi. 10.1093/brain/aws140
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- Publication type:
- Article