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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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- 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
Electrodiagnostic Findings in CMTX: A Disorder of the Schwann Cell and Peripheral Nerve Myelin.
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- 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
Overcoming Cellular Immunity to Prolong Adenoviral-Mediated Gene Expression in Sciatic Nerve.
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- 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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- Article
Correlation between Weakness and Axonal Loss in Patients with CMT1A.
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- 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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- Article
Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations.
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- 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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- Article
The Absence of Myelin P<sub>0</sub> Protein Produces a Novel Molecular Phenotype in Schwann Cell.
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- 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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- Article
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.
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- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 202, doi. 10.1111/jns.12621
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- Article
Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID‐19 pandemic: Challenges and solutions.
- Published in:
- 2023
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- Letter to the Editor
Validation of the parent‐proxy version of the pediatric Charcot‐Marie‐Tooth disease quality of life instrument for children aged 0–7 years.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 382, doi. 10.1111/jns.12557
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- Article
Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 2, p. 237, doi. 10.1111/jns.12538
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- Article
Validation of the Italian version of the pediatric CMT quality of life outcome measure.
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- Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 127, doi. 10.1111/jns.12494
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- Article
A longitudinal and cross‐sectional study of plasma neurofilament light chain concentration in Charcot‐Marie‐Tooth disease.
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- Journal of the Peripheral Nervous System, 2022, v. 27, n. 1, p. 50, doi. 10.1111/jns.12477
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- Article
Featured Cover.
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- Journal of the Peripheral Nervous System, 2021, v. 26, p. i, doi. 10.1111/jns.12475
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- Article
Hereditary neuropathies: A pathological perspective.
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- Journal of the Peripheral Nervous System, 2021, v. 26, p. S42, doi. 10.1111/jns.12467
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- Article
Loss of function MPZ mutation causes milder CMT1B neuropathy.
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- Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 177, doi. 10.1111/jns.12452
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- Article
Reliability of the Charcot‐Marie‐Tooth functional outcome measure.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 288, doi. 10.1111/jns.12406
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- Article
Validation of the Italian version of the Charcot‐Marie‐Tooth disease Pediatric Scale.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 138, doi. 10.1111/jns.12383
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- Article
A recurrent GARS mutation causes distal hereditary motor neuropathy.
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- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 320, doi. 10.1111/jns.12353
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- Article
Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.
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- Cells (2073-4409), 2022, v. 11, n. 6, p. 1053, doi. 10.3390/cells11061053
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- Article
Disorders of Pulmonary Function, Sleep, and the Upper Airway in Charcot-Marie-Tooth Disease.
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- Lung, 2007, v. 185, n. 1, p. 1, doi. 10.1007/s00408-006-0053-9
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- Publication type:
- Article
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).
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- 2011
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- Abstract
Conduction Block in PMP22 Deficiency.
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- Journal of Neuroscience, 2010, v. 30, n. 2, p. 600, doi. 10.1523/JNEUROSCI.4264-09.2010
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- Article
Myelin protein zero/P0 phosphorylation and function require an adaptor protein it to RACK1 and PKCα.
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- Journal of Cell Biology, 2007, v. 177, n. 4, p. 707, doi. 10.1083/jcb.200608060
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- Article
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).
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- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/496053
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- Article
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
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- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/239167
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- Article
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2.
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- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5171, doi. 10.1093/hmg/ddu240
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- Article
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
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- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1877, doi. 10.1093/hmg/ddn083
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- Article
GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
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- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1087, doi. 10.1093/hmg/ddi121
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- Article
Update on Charcot-Marie-Tooth Disease.
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- Current Neurology & Neuroscience Reports, 2011, v. 11, n. 1, p. 78, doi. 10.1007/s11910-010-0158-7
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- Article
A molecular basis for hereditary motor and sensory neuropathy disorders.
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- Current Neurology & Neuroscience Reports, 2001, v. 1, n. 1, p. 77, doi. 10.1007/s11910-001-0079-6
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- Article
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5110, doi. 10.1093/brain/awad258
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- 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.
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- 2021
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- Publication type:
- journal article
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
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- 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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- 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.
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- 2017
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- journal article
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 5, p. 906, doi. 10.1002/ana.26633
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- Publication type:
- Article
Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 369, doi. 10.1002/ana.25966
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- Article
Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies.
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- 2019
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- Publication type:
- journal article
The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome.
- Published in:
- 2018
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- journal article
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
- Published in:
- 2018
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- Publication type:
- journal article
Natural history of Charcot-Marie-Tooth disease during childhood.
- Published in:
- 2017
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- Publication type:
- journal article
LRSAM1 lessons.
- Published in:
- 2016
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- Publication type:
- journal article
Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.
- Published in:
- Molecular Neurobiology, 2022, v. 59, n. 7, p. 4159, doi. 10.1007/s12035-022-02838-y
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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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- Article
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1713, doi. 10.1002/acn3.51145
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- Article
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 69, doi. 10.1002/acn3.50965
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- Publication type:
- Article