Research & Literature

A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment.

Mandel J, Bertrand V, Lehert P, et al.

Orphanet journal of rare diseases 2015; (10()):74 doi:10.1186/s13023-015-0293-y.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, et al.

Brain : a journal of neurology 2015; (138(Pt 11)):3180-92 doi:10.1093/brain/awv241.

[Ascorbic Acid and Charcot-Marie-Tooth Disease].

Noto Y

Brain and nerve = Shinkei kenkyu no shinpo 2015; (67(10)):1241-6 doi:10.11477/mf.1416200289.

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Montecchiani C, Pedace L, Lo Giudice T, et al.

Brain : a journal of neurology 2016; (139(Pt 1)):73-85 doi:10.1093/brain/awv320.

[Phenotypes of Charcot-Marie-Tooth Syndrome and Differential Diagnosis Focused in Inflammatory Neuropathies].

Iijima M

Brain and nerve = Shinkei kenkyu no shinpo 2016; (68(1)):31-42 doi:10.11477/mf.1416200343.

Rehabilitation issues in Charcot-Marie-Tooth disease.

Kenis-Coskun O, Matthews DJ

Journal of pediatric rehabilitation medicine 2016; (9(1)):31-4 doi:10.3233/PRM-160359.

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

Motley WW, Palaima P, Yum SW, et al.

Brain : a journal of neurology 2016; (139(Pt 6)):1649-56 doi:10.1093/brain/aww055.

Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature.

Corrado B, Ciardi G, Bargigli C

Medicine 2016; (95(17)):e3278 doi:10.1097/MD.0000000000003278.

The Role of Rehabilitation in the Management of Patients with Charcot-Marie-Tooth Disease: Report of Two Cases.

Dimitrova EN, Božinovikj I, Ristovska S, et al.

Open access Macedonian journal of medical sciences 2016; (4(3)):443-448 doi:10.3889/oamjms.2016.079.

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

Piscosquito G, Magri S, Saveri P, et al.

Journal of the peripheral nervous system : JPNS 2017; (22(1)):47-50 doi:10.1111/jns.12201.

Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A).

Posa A, Emmer A, Kornhuber ME

Clinical neurology and neurosurgery 2017; (155()):20-21 doi:10.1016/j.clineuro.2017.02.004.

Charcot Foot.

Zwipp H, Rammelt S, Dahlen C, Reichmann H

Der Orthopade 1999; (28(6)):550-558 doi:10.1007/PL00003640.

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Hong YB, Park JM, Yu JS, et al.

Journal of the peripheral nervous system : JPNS 2017; (22(3)):172-181 doi:10.1111/jns.12217.

[Charcot-Marie-Tooth disease associated with hip dysplasia in an adolescent].

Langlais T, Leonard JC, Ursu C, Morin C

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017; (24(7)):675-681 doi:10.1016/j.arcped.2017.04.014.

Caveats in the Established Understanding of CMT1A.

Li J

Annals of clinical and translational neurology 2017; (4(8)):601-607 doi:10.1002/acn3.432.

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.

Zhao HT, Damle S, Ikeda-Lee K, et al.

The Journal of clinical investigation 2018; (128(1)):359-368.

An asymptomatic mutation complicating severe chemotherapy-induced peripheral neuropathy (CIPN): a case for personalised medicine and a zebrafish model of CIPN.

Holloway MP, DeNardo BD, Phornphutkul C, et al.

NPJ genomic medicine 2016; (1()):16016 doi:10.1038/npjgenmed.2016.16.

A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.

Sabblah TT, Nandini S, Ledray AP, et al.

Scientific reports 2018; (8(1)):1739 doi:10.1038/s41598-018-20081-1.

Novel Myelin Protein Zero Mutation in 3 Generations of Vermonters With Demyelinating Charcot-Marie-Tooth Disease.

Lorance DK, Mandigo KA, Hehir MK

Journal of clinical neuromuscular disease 2018; (19(3)):101-107 doi:10.1097/CND.0000000000000188.

The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome.

Johnson NE, Heatwole C, Creigh P, et al.

Annals of neurology 2018; (84(2)):225-233 doi:10.1002/ana.25282.

Charcot‑Marie‑Tooth type 1A drug therapies: role of adenylyl cyclase activity and G‑protein coupled receptors in disease pathomechanism.

Kiepura AJ, Kochański A

Acta neurobiologiae experimentalis 2018; (78(3)):198-209.

Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A).

Prukop T, Stenzel J, Wernick S, et al.

PloS one 2019; (14(1)):e0209752 doi:10.1371/journal.pone.0209752.

Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.

Kontogeorgiou Z, Nikolaou K, Kartanou C, et al.

Journal of the peripheral nervous system : JPNS 2019; (24(1)):125-130 doi:10.1111/jns.12305.

Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.

Sun SC, Ma D, Li MY, et al.

Brain : a journal of neurology 2019; (142(8)):2215-2229 doi:10.1093/brain/awz151.

X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.

Hardy DI, Licht DJ, Vossough A, Kirschen MP

Neuropediatrics 2019; (50(5)):304-307 doi:10.1055/s-0039-1692982.

Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family.

Nusrat K, Mahmood S, Raza M, et al.

Cureus 2019; (11(4)):e4417 doi:10.7759/cureus.4417.

Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.

Chen B, Niu S, Wang X, et al.

Clinical neurology and neurosurgery 2019; (184()):105430 doi:10.1016/j.clineuro.2019.105430.

Gene therapy approaches targeting Schwann cells for demyelinating neuropathies.

Sargiannidou I, Kagiava A, Kleopa KA

Brain research 2020; (1728()):146572 doi:10.1016/j.brainres.2019.146572.

Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.

Gite J, Milko E, Brady L, Baker SK

Neuromuscular disorders : NMD 2020; (30(3)):232-235 doi:10.1016/j.nmd.2020.02.002.

[Hereditary Polyneuropathies].

Ferbert A, Roth C

Fortschritte der Neurologie-Psychiatrie 2020; (88(3)):198-209 doi:10.1055/a-1009-2270.

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.

Wu DW, Li Y, Yin X, Zhang B

Brain and behavior 2020; (10(9)):e01724 doi:10.1002/brb3.1724.

Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future.

Boutary S, Echaniz-Laguna A, Adams D, et al.

Translational research : the journal of laboratory and clinical medicine 2021; (227()):100-111 doi:10.1016/j.trsl.2020.07.006.

Satisfaction with ankle foot orthoses in individuals with Charcot-Marie-Tooth disease.

Zuccarino R, Anderson KM, Shy ME, Wilken JM

Muscle & nerve 2021; (63(1)):40-45 doi:10.1002/mus.27027.

Understanding medication safety and Charcot-Marie-Tooth disease: a patient perspective.

Socha Hernandez AV, Deeks LS, Shield AJ

International journal of clinical pharmacy 2020; (42(6)):1507-1514 doi:10.1007/s11096-020-01123-z.

Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease.

Õunpuu S, Pierz KA, Acsadi G, Wren TAL

Neuromuscular disorders : NMD 2020; (30(10)):825-832 doi:10.1016/j.nmd.2020.08.359.

Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease.

Kitani-Morii F, Noto YI

International journal of molecular sciences 2020; (21(19)) doi:10.3390/ijms21197419.

CIDP, CMT1B, or CMT1B plus CIDP?

Cardellini D, Zanette G, Taioli F, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(3)):1127-1130 doi:10.1007/s10072-020-04789-5.

Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease.

Singh D, Gray J, Laura M, Reilly MM

Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons 2021; (27(8)):865-868 doi:10.1016/j.fas.2020.11.005.

Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.

Shi J, Zhao F, Pang X, et al.

Neuromuscular disorders : NMD 2021; (31(2)):149-157 doi:10.1016/j.nmd.2020.11.002.

A prospective study on surgical management of foot deformities in Charcot Marie tooth disease.

Ramdharry G, Singh D, Gray J, et al.

Journal of the peripheral nervous system : JPNS 2021; (26(2)):187-192 doi:10.1111/jns.12437.

AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.

Kagiava A, Karaiskos C, Richter J, et al.

Gene therapy 2021; (28(10-11)):659-675 doi:10.1038/s41434-021-00250-0.

Anesthetic Management of A Patient with Charcot-Marie-Tooth Disease for 2-stage Revision of Total Knee Replacement.

Soulioti E, Kavezou F, Efstathiou G, et al.

Turkish journal of anaesthesiology and reanimation 2021; (49(2)):178-180 doi:10.5152/TJAR.2021.513.

The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.

Yalcintepe S, Gurkan H, Dogan IG, et al.

Turkish neurosurgery 2021; (31(6)):888-895 doi:10.5137/1019-5149.JTN.33661-21.3.

Therapeutic Development in Charcot Marie Tooth Type 1 Disease.

Miniou P, Fontes M

International journal of molecular sciences 2021; (22(13)) doi:10.3390/ijms22136755.

Impact of Customized and Sustained Physiotherapy in Charcot-Marie-Tooth Disease.

Chitapure T, Jethwani D, Zubair Ahmed S, Panigrahy C

Cureus 2021; (13(8)):e17201 doi:10.7759/cureus.17201.

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.

Attarian S, Young P, Brannagan TH, et al.

Orphanet journal of rare diseases 2021; (16(1)):433 doi:10.1186/s13023-021-02040-8.

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives.

Pisciotta C, Saveri P, Pareyson D

Brain sciences 2021; (11(11)) doi:10.3390/brainsci11111447.

Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.

Thomas FP, Saporta MA, Attarian S, et al.

Journal of clinical neuromuscular disease 2022; (24(1)):7-17 doi:10.1097/CND.0000000000000426.

Electrodiagnosis: How to Read Electromyography Reports for the Nonneurophysiologist.

Laughlin RS, Rubin DI

Neurologic clinics 2023; (41(1)):45-60 doi:10.1016/j.ncl.2022.05.003.

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.

Van Lent J, Vendredy L, Adriaenssens E, et al.

Brain : a journal of neurology 2023; (146(7)):2885-2896 doi:10.1093/brain/awac475.

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.

Kozina AA, Baryshnikova NV, Ilinskaya AY, et al.

The Journal of international medical research 2022; (50(12)):3000605221139718 doi:10.1177/03000605221139718.

The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1.

Albuquerque F, Cunha D, Rodrigues AC, et al.

Cureus 2023; (15(1)):e33727 doi:10.7759/cureus.33727.

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

Ceylan GG, Habiloğlu E, Çavdarlı B, et al.

Revista da Associacao Medica Brasileira (1992) 2023; (69(2)):233-239 doi:10.1590/1806-9282.20220929.

Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.

Hertzog N, Jacob C

Neural regeneration research 2023; (18(9)):1931-1939 doi:10.4103/1673-5374.367834.

Toxic medications in Charcot-Marie-Tooth patients: A systematic review.

Cavaletti G, Forsey K, Alberti P

Journal of the peripheral nervous system : JPNS 2023; (28(3)):295-307 doi:10.1111/jns.12566.

Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.

Pisciotta C, Pareyson D

Neuromuscular disorders : NMD 2023; (33(8)):627-635 doi:10.1016/j.nmd.2023.07.001.

Hereditary neuropathy.

Pisciotta C, Shy ME

Handbook of clinical neurology 2023; (195()):609-617 doi:10.1016/B978-0-323-98818-6.00009-1.

Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives.

Cavalcanti EBU, Leal RCC, Marques Junior W, Nascimento OJMD

Arquivos de neuro-psiquiatria 2023; (81(10)):913-921 doi:10.1055/s-0043-1770348.

Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis.

Shoji H, Sakamoto R, Saito C, et al.

Intractable & rare diseases research 2023; (12(3)):198-201 doi:10.5582/irdr.2023.01051.

Demyelinating Peripheral Neuropathy Caused by the p.R160H Mutation in the LITAF Gene.

Peddareddygari LR, Grewal RP

Journal of community hospital internal medicine perspectives 2023; (13(4)):45-48 doi:10.55729/2000-9666.1203.

AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells.

Yoshioka Y, Taniguchi JB, Homma H, et al.

Communications medicine 2023; (3(1)):170 doi:10.1038/s43856-023-00400-y.

Anesthetic Management of Coronary Artery Bypass Grafting in a Patient with Charcot-Marie-Tooth Disease and Multivessel Coronary Artery Disease.

Rawson J, Hayanga JWA, Varga JL, et al.

The American journal of case reports 2023; (24()):e940284 doi:10.12659/AJCR.940284.

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.

Xu X, Lu F, Du S, Zhang L

BMC pediatrics 2024; (24(1)):21 doi:10.1186/s12887-023-04441-z.

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

Sivera Mascaró R, García Sobrino T, Horga Hernández A, et al.

Neurologia 2025; (40(3)):290-305 doi:10.1016/j.nrleng.2024.02.008.

Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication.

Liu X, Ishikawa KI, Hattori N, Akamatsu W

Stem cell research 2024; (77()):103401 doi:10.1016/j.scr.2024.103401.

Electrophysiological and radiological diagnosis of hereditary motor and sensory polyneuropathy.

Al-Khlaiwi T, Meo I, Butt MA, Khan A

Journal of family medicine and primary care 2024; (13(6)):2511-2515 doi:10.4103/jfmpc.jfmpc_1513_23.

A dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.

Christou M, Sargiannidou I, Papacharalambous R, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2025; (22(3)):e00568 doi:10.1016/j.neurot.2025.e00568.

Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22.

Kawai H, Nishida Y, Kanda T, Yokota T

Neurogenetics 2025; (26(1)):37 doi:10.1007/s10048-025-00808-9.

A Case Series of Unilateral Peripheral Neuropathy.

Kramarz C, Masingue M, Bouhour F, et al.

Journal of the peripheral nervous system : JPNS 2025; (30(2)):e70033 doi:10.1111/jns.70033.

Clinical Characteristics of Gait Disturbance in Charcot-Marie-Tooth Disease and Future Directions in Physical Therapy.

Kikuchi K

Cureus 2025; (17(6)):e85581 doi:10.7759/cureus.85581.

The current status of Charcot-Marie-Tooth disease type 1 A treatment.

Qi H, Wang X, Wu B, et al.

Acta neurologica Belgica 2025; (125(6)):1525-1533 doi:10.1007/s13760-025-02881-1.

A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.

Chrisman C, Keshav R, Record CJ, et al.

Journal of clinical neuromuscular disease 2025; (27(1)):9-13 doi:10.1097/CND.0000000000000534.

Perception of ankle foot orthoses by individuals with Charcot-Marie-Tooth disease.

Anderson KM, Zuccarino R, Magdziarz SM, et al.

Prosthetics and orthotics international 2025; doi:10.1097/PXR.0000000000000500.

A systematic review of CRISPR applications in demyelinating peripheral nervous system disorders.

Mariki A, Kohlmeier KA, Mousavi SM, Shabani M

Regenerative medicine 2025; (20(11)):653-662 doi:10.1080/17460751.2025.2574198.

Charcot-Marie-Tooth Disease With Severe Hand Contractures and Respiratory Failure Requiring Long-Term Ventilator Support: A Case Report.

Battula P, Raza H

Cureus 2025; (17(9)):e92525 doi:10.7759/cureus.92525.

[Charcot-Marie-Tooth Disease: Historical Evolution and Present Understanding].

Yano C, Takashima H

Brain and nerve = Shinkei kenkyu no shinpo 2025; (77(11)):1176-1184 doi:10.11477/mf.188160960770111176.

Cervical radiculopathy for neurologists: the role of electrodiagnosis.

Gonçalves LI, Oliveira Junior PH, Baima JPS

Arquivos de neuro-psiquiatria 2025; (83(10)):1-6 doi:10.1055/s-0045-1812893.

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America.

Vidon RO, Tomaselli PJ, Bittar-Braune C, et al.

Journal of the peripheral nervous system : JPNS 2026; (31(1)):e70099 doi:10.1111/jns.70099.