Charcot-Marie-Tooth Association

Recent papers from Charcot-Marie-Tooth Association

1. Non-Pharmacological Management of Charcot–Marie–Tooth Disease: A Case ReportMuscles · 2026
2. Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiencesEuropean Journal of Human Genetics · 2026
3. From patient advocacy to patient‐driven research: Building active partnerships beginning at the bench to reach the bedsideFEBS Open Bio · 2026
4. Clinical Development of Therapies for Charcot–Marie–Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory PathwaysJournal of the Peripheral Nervous System · 2026
5. Preclinical translational platform of neuroinflammatory disease biology relevant to neurodegenerative diseaseJournal of Neuroinflammation · 2024
6. Effects of intensive rehabilitation on functioning in patients with mild and moderate Charcot–Marie-Tooth disease: a real-practice retrospective studyNeurological Sciences · 2023
7. Toxic medications in Charcot–Marie–Tooth patients: A systematic reviewJournal of the Peripheral Nervous System · 2023
8. Patient-Reported Symptom Burden of Charcot–Marie–Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle StudyJournal of Clinical Neuromuscular Disease · 2022
9. The Longitudinal Early‐onset Alzheimer's Disease Study (LEADS): Framework and methodologyAlzheimer s & Dementia · 2021
10. Measures of resting state EEG rhythms for clinical trials in Alzheimer's disease: Recommendations of an expert panelENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) · 2021
11. Patient-reported Impact of Charcot-Marie-Tooth Disease: Protocol for a real-world Digital Lifestyle StudyNeurodegenerative Disease Management · 2020
12. Long‐term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot‐Marie‐Tooth disease: A retrospective studyJournal of the Peripheral Nervous System · 2020
13. Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Autonomic Testing, Nerve Biopsy, and Skin Biopsy (An Evidence‐Based Review)PM&R · 2009
14. Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Laboratory and Genetic Testing (An Evidence‐Based Review)PM&R · 2009
15. Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlationAnnals of Neurology · 2001