Research & Literature

Orthopaedic shoes along with physical therapy was effective in Charcot-Marie-Tooth patient over 10 years.

Bensoussan L, Jouvion A, Kerzoncuf M, et al.

Prosthetics and orthotics international 2016; (40(5)):636-42 doi:10.1177/0309364615584657.

Coexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study.

Chao HC, Chou CT, Lee YC, Lin KP

Journal of the neurological sciences 2015; (358(1-2)):213-20.

[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.

Nerve conduction velocity in CMT1A: what else can we tell?

Manganelli F, Pisciotta C, Reilly MM, et al.

European journal of neurology 2016; (23(10)):1566-71 doi:10.1111/ene.13079.

Handwriting difficulties of children with Charcot-Marie-Tooth disease type 1A.

Kunovsky D, Cordier R, Bray P, Burns J

Journal of the peripheral nervous system : JPNS 2017; (22(1)):34-38 doi:10.1111/jns.12198.

Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.

Jerath NU, Shy ME

Muscle & nerve 2017; (56(6)):1092-1095 doi:10.1002/mus.25600.

Charcot Foot.

Zwipp H, Rammelt S, Dahlen C, Reichmann H

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

The adult cavus foot.

Maynou C, Szymanski C, Thiounn A

EFORT open reviews 2017; (2(5)):221-229 doi:10.1302/2058-5241.2.160077.

Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients.

Tozza S, Bruzzese D, Pisciotta C, et al.

European journal of neurology 2018; (25(2)):301-306 doi:10.1111/ene.13494.

The "CMT Rat": Peripheral Neuropathy and Dysmyelination Caused by Transgenic Overexpression of PMP22.

Niemann S, Sereda MW, Rossner M, et al.

Annals of the New York Academy of Sciences 1999; (883(1)):254-261 doi:10.1111/j.1749-6632.1999.tb08587.x.

Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.

Cornett KMD, Menezes MP, Bray P, et al.

Journal of the peripheral nervous system : JPNS 2018; (23(1)):29-35 doi:10.1111/jns.12245.

Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A.

Shy ME

The Journal of clinical investigation 2018; (128(1)):110-112.

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.

Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder.

Duchesne M, Danigo A, Richard L, et al.

Journal of neuropathology and experimental neurology 2018; (77(4)):274-281 doi:10.1093/jnen/nly001.

Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.

Nam SH, Kanwal S, Nam DE, et al.

Neuromuscular disorders : NMD 2018; (28(6)):502-507 doi:10.1016/j.nmd.2018.04.002.

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.

Morrow JM, Evans MRB, Grider T, et al.

Neurology 2018; (91(12)):e1125-e1129 doi:10.1212/WNL.0000000000006214.

Walking Speed Is Correlated With the Isokinetic Muscular Strength of the Knee in Patients With Charcot-Marie-Tooth Type 1A.

Reynaud V, Morel C, Givron P, et al.

American journal of physical medicine & rehabilitation 2019; (98(5)):422-425 doi:10.1097/PHM.0000000000001084.

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.

Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany.

Schorling E, Thiele S, Gumbert L, et al.

Neurology 2019; (92(17)):e2027-e2037 doi:10.1212/WNL.0000000000007376.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Tao F, Beecham GW, Rebelo AP, et al.

Journal of neuromuscular diseases 2019; (6(2)):201-211 doi:10.3233/JND-190377.

Neurologic Disorders and Cavovarus Deformity.

Neumann JA, Nickisch F

Foot and ankle clinics 2019; (24(2)):195-203 doi:10.1016/j.fcl.2019.02.003.

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Fridman V, Sillau S, Acsadi G, et al.

Neurology 2020; (94(9)):e884-e896 doi:10.1212/WNL.0000000000009035.

High glucose level as a modifier factor in CMT1A patients.

Secchin JB, Leal RCC, Lourenço CM, et al.

Journal of the peripheral nervous system : JPNS 2020; (25(2)):132-137 doi:10.1111/jns.12379.

Pes cavovarus in Charcot-Marie-Tooth compared to the idiopathic cavovarus foot: A preliminary weightbearing CT analysis.

Bernasconi A, Cooper L, Lyle S, et al.

Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons 2021; (27(2)):186-195 doi:10.1016/j.fas.2020.04.004.

Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.

Lee AJ, Nam DE, Choi YJ, et al.

Molecular genetics & genomic medicine 2020; (8(9)):e1380 doi:10.1002/mgg3.1380.

Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients.

Kitani-Morii F, Noto YI, Tsuji Y, et al.

Frontiers in neurology 2020; (11()):626 doi:10.3389/fneur.2020.00626.

High-density surface electromyography to assess motor unit firing rate in Charcot-Marie-Tooth disease type 1A patients.

Noto YI, Watanabe K, Holobar A, et al.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2021; (132(3)):812-818 doi:10.1016/j.clinph.2020.11.040.

The impact of orthoses on gait in children with Charcot-Marie-Tooth disease.

Õunpuu S, Garibay E, Acsadi G, et al.

Gait & posture 2021; (85()):198-204 doi:10.1016/j.gaitpost.2021.02.005.

Functional results and quality of life after joint preserving or sacrificing surgery in Charcot-Marie-Tooth foot deformities.

Tejero S, Chans-Veres J, Carranza-Bencano A, et al.

International orthopaedics 2021; (45(10)):2569-2578 doi:10.1007/s00264-021-04978-7.

The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease.

Tozza S, Bruzzese D, Severi D, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(1)):559-563 doi:10.1007/s10072-021-05254-7.

Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A.

Azevedo H, Costa H, Davidovich E, et al.

Arquivos de neuro-psiquiatria 2021; (79(5)):415-419 doi:10.1590/0004-282X-ANP-2020-0132.

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.

Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients.

Kim HS, Lee JH, Yoon YC, et al.

Scientific reports 2021; (11(1)):21535 doi:10.1038/s41598-021-00819-0.

A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.

Stavrou M, Kagiava A, Choudury SG, et al.

The Journal of clinical investigation 2022; (132(13)).

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Jung NY, Kwon HM, Nam DE, et al.

Genes 2022; (13(7)) doi:10.3390/genes13071219.

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.

Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI.

Elmansy M, Morrow JM, Shah S, et al.

Muscle & nerve 2022; (66(6)):744-749 doi:10.1002/mus.27728.

Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data.

Kim YJ, Kim HS, Lee JH, et al.

Scientific reports 2022; (12(1)):16622 doi:10.1038/s41598-022-21112-8.

Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.

Davion JB, Cassim F, Péréon Y, Nguyen The Tich S

Neurophysiologie clinique = Clinical neurophysiology 2022; (52(6)):482-485 doi:10.1016/j.neucli.2022.09.007.

Collaborative Therapist-Patient Decision Making: A Power-Based Exercise Program for an Adolescent With CMT1A.

Hedgecock JB, Kelley C, Jensen A, Rapport MJ

Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2023; (35(1)):101-107 doi:10.1097/PEP.0000000000000972.

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.

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Rehbein T, Wu TT, Treidler S, et al.

Brain : a journal of neurology 2023; (146(9)):3826-3835 doi:10.1093/brain/awad095.

Disease-specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with Charcot-Marie-Tooth disease type 1A.

Dinesh K, White N, Baker L, et al.

Journal of the peripheral nervous system : JPNS 2023; (28(3)):368-381 doi:10.1111/jns.12562.

Effect of Ankle-Foot Orthoses in Pediatric Patients with Hereditary Motor-Sensory Neuropathy: A Case Series Study.

Borghi C, Sassi S, Pandarese D, et al.

Children (Basel, Switzerland) 2023; (10(9)) doi:10.3390/children10091529.

Gait Pattern in Charcot-Marie-Tooth Disease Type 1A According to Disease Severity.

Park J, Joo SY, Choi BO, et al.

Journal of personalized medicine 2023; (13(10)) doi:10.3390/jpm13101473.

Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

Mandarakas MR, Eichinger KJ, Bray P, et al.

Neurology 2024; (102(3)):e207963 doi:10.1212/WNL.0000000000207963.

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.

Tomaselli PJ, Blake J, Polke JM, et al.

European journal of neurology 2024; (31(5)):e16199 doi:10.1111/ene.16199.

Testing SIPA1L2 as a modifier of CMT1A using mouse models.

Murray GC, Hines TJ, Tadenev ALD, et al.

Journal of neuropathology and experimental neurology 2024; (83(5)):318-330 doi:10.1093/jnen/nlae020.

Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology.

Uncini A, Cavallaro T, Fabrizi GM, et al.

Journal of the peripheral nervous system : JPNS 2024; (29(2)):135-160 doi:10.1111/jns.12625.

PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.

Prior R, Silva A, Vangansewinkel T, et al.

Brain : a journal of neurology 2024; (147(9)):3113-3130 doi:10.1093/brain/awae158.

Synergistic effect of Wharton's jelly-derived mesenchymal stem cells and insulin on Schwann cell proliferation in Charcot-Marie-Tooth disease type 1A treatment.

Oh SJ, Kim H, Park SE, et al.

Neurobiology of disease 2024; (203()):106725 doi:10.1016/j.nbd.2024.106725.

Guillain-Barré syndrome in patients with Charcot-Marie-Tooth type 1A disease, probably a non-random association.

Davion JB, Devaux J, Tard C, et al.

Neurophysiologie clinique = Clinical neurophysiology 2025; (55(4)):103071 doi:10.1016/j.neucli.2025.103071.

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.

Plantar Pressure Distribution in Charcot-Marie-Tooth Disease: A Systematic Review.

Arceri A, Mazzotti A, Sgubbi F, et al.

Sensors (Basel, Switzerland) 2025; (25(14)) doi:10.3390/s25144312.

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.

Effectiveness of Sitagliptin and Empagliflozin Combination Therapy in a Patient With Charcot-Marie-Tooth Disease and Comorbid Diabetes Mellitus: A Case Report.

Wada M, Mizuno Y, Kajiyama A, et al.

Cureus 2025; (17(8)):e89954 doi:10.7759/cureus.89954.

Guillain-Barré Syndrome With Asymmetrical Weakness in a Patient With Charcot-Marie-Tooth Disease Type 1A.

Ahmed K, Elachola M, Alsararatee H, Pugh N

Cureus 2025; (17(10)):e94525 doi:10.7759/cureus.94525.

Multidimensional evaluation of clinical and functional impairment in a large population of patients with Charcot-Marie-Tooth.

Calafiore D, Marotta N, Curci C, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(12)):6795-6803 doi:10.1007/s10072-025-08489-w.

Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.

Moss KR, Arowolo MA, Gutierrez DR, Höke A

Glia 2026; (74(2)):e70124 doi:10.1002/glia.70124.

A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.

Pomarino D, Rostásy KM, Fregien B, et al.

Global medical genetics 2026; (13(1)):100081 doi:10.1016/j.gmg.2025.100081.