Research map: Clinical Development of Therapies for Charcot–Marie–Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways

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Papers in this map

  1. Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease · Håvard Skre · 1974 · 914 citations · Cited by this paper
  2. ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome · 2025 · Related
  3. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis · Vera Fridman · 2014 · 356 citations · Cited by this paper
  4. Neurophysiological Characteristics of Nitrous Oxide‐Induced Polyneuropathy: A Case Series · 2026 · Related
  5. Reliability and validity of the CMT neuropathy score as a measure of disability · Michael E. Shy · 2005 · 356 citations · Cited by this paper
  6. Utility of the “Modified Erasmus GBS Respiratory Insufficiency Score” in Axonal and Demyelinating Guillain–Barré Syndrome · 2026 · Related
  7. Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability · Joshua Burns · 2012 · 186 citations · Cited by this paper
  8. A Next‐Generation ELISA for the Detection of Anti‐(Para)Nodal Antibodies in Autoimmune Nodopathy and COVID ‐19 Vaccinated Individuals · 2026 · Related
  9. Genetic epidemiology of Charcot–Marie–Tooth in the general population · Geir J. Braathen · 2010 · 176 citations · Cited by this paper
  10. Motor Neuronopathy With Widespread Fasciculations in MCM3AP ‐Related Disorder: Clinical and Muscle MRI Insights · 2026 · Related
  11. Immune Response Mechanisms against AAV Vectors in Animal Models · Ashley T. Martino · 2019 · 100 citations · Cited by this paper
  12. Associations Between Diabetes Distress, Diabetic Peripheral Neuropathy and Neuropathic Pain in People With Type 2 Diabetes—The Maastricht Study · 2026 · Related
  13. Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease · Kayla Cornett · 2016 · 98 citations · Cited by this paper
  14. Blood 1‐Deoxysphingolipid Levels Are Associated With Epidermal Denervation in Small Fiber Neuropathy · 2025 · Related
  15. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study · Menelaos Pipis · 2020 · 96 citations · Cited by this paper
  16. Molecular Mediators Associated With Myelination, Demyelination, and Remyelination in the Peripheral Nervous System · 2026 · Related
  17. Natural history of Charcot‐Marie‐Tooth disease during childhood · Kayla Cornett · 2017 · 82 citations · Cited by this paper
  18. Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency · 2026 · Related
  19. Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A · Jasper M. Morrow · 2018 · 69 citations · Cited by this paper
  20. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores · Vera Fridman · 2020 · 56 citations · Cited by this paper
  21. Mechanisms and Treatments in Demyelinating CMT · Vera Fridman · 2021 · 56 citations · Cited by this paper
  22. Determinants of reduced health-related quality of life in pediatric inherited neuropathies · Joshua Burns · 2010 · 50 citations · Cited by this paper
  23. The C harcot– M arie– T ooth H ealth I ndex: Evaluation of a Patient‐Reported Outcome · Nicholas Elwood Johnson · 2018 · 42 citations · Cited by this paper
  24. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants · Christopher J. Record · 2023 · 37 citations · Cited by this paper
  25. Charcot-Marie-Tooth Disease, Psychiatric Indicators and Quality of Life: A Systematic Review · Joana L.C. Cordeiro · 2014 · 34 citations · Cited by this paper
  26. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale · Melissa R. Mandarakas · 2018 · 34 citations · Cited by this paper
  27. Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints · Mary M. Reilly · 2023 · 30 citations · Cited by this paper
  28. Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS · Kayla Cornett · 2020 · 28 citations · Cited by this paper
  29. Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study · Vera Fridman · 2022 · 27 citations · Cited by this paper
  30. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history · Tyler Rehbein · 2023 · 26 citations · Cited by this paper
  31. Hereditary neuropathy · Chiara Pisciotta · 2023 · 25 citations · Cited by this paper
  32. Charcot–Marie–Tooth disease and related neuropathies · Joshua Burns · 2026 · 19 citations · Cited by this paper
  33. Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation · Luke O’Donnell · 2023 · 16 citations · Cited by this paper
  34. Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A · Katy J. Eichinger · 2022 · 12 citations · Cited by this paper
  35. Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure · Melissa R. Mandarakas · 2024 · 11 citations · Cited by this paper
  36. Twelve‐month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years · Matthew R. B. Evans · 2025 · 10 citations · Cited by this paper
  37. Disease‐specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with Charcot–Marie–Tooth disease type 1A · Karthik Dinesh · 2023 · 8 citations · Cited by this paper
  38. TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations · Gage P Kosmanopoulos · 2024 · 7 citations · Cited by this paper
  39. Trends in clinical studies evaluating neurofilament light chain as a biomarker · Sydney Stern · 2025 · 6 citations · Cited by this paper

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