Research & Literature

Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.

Wang R, He J, Li JJ, et al.

Clinica chimica acta; international journal of clinical chemistry 2015; (451(Pt B)):263-70.

Correlates of functional ankle instability in children and adolescents with Charcot-Marie-Tooth disease.

Rose KJ, Hiller CE, Mandarakas M, et al.

Journal of foot and ankle research 2015; (8()):61 doi:10.1186/s13047-015-0118-1.

[Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital].

Fernández-Ramos JA, López-Laso E, Camino-León R, et al.

Revista de neurologia 2015; (61(11)):490-8.

"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.

Conceição I, González-Duarte A, Obici L, et al.

Journal of the peripheral nervous system : JPNS 2016; (21(1)):5-9 doi:10.1111/jns.12153.

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.

Somatic neural alterations in non-diabetic obesity: a cross-sectional study.

Yadav RL, Sharma D, Yadav PK, et al.

BMC obesity 2016; (3()):50 doi:10.1186/s40608-016-0131-3.

New developments in Charcot-Marie-Tooth neuropathy and related diseases.

Pareyson D, Saveri P, Pisciotta C

Current opinion in neurology 2017; (30(5)):471-480 doi:10.1097/WCO.0000000000000474.

Characteristics of nerve conduction studies in carpal tunnel syndrome.

Moon PP, Maheshwari D, Sardana V, et al.

Neurology India 2017; (65(5)):1013-1016 doi:10.4103/neuroindia.NI_628_16.

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.

Frequency and circumstances of falls for people with Charcot-Marie-Tooth disease: A cross sectional survey.

Ramdharry GM, Reilly-O'Donnell L, Grant R, Reilly MM

Physiotherapy research international : the journal for researchers and clinicians in physical therapy 2018; (23(2)):e1702 doi:10.1002/pri.1702.

Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature.

Sy A, Cheng J, Cooper R, Mueller L

Journal of pediatric hematology/oncology 2019; (41(1)):e41-e43 doi:10.1097/MPH.0000000000001230.

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.

Factors predicting reclassification of variants of unknown significance.

Wright M, Menon V, Taylor L, et al.

American journal of surgery 2018; (216(6)):1148-1154 doi:10.1016/j.amjsurg.2018.08.008.

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.

Mersch J, Brown N, Pirzadeh-Miller S, et al.

JAMA 2018; (320(12)):1266-1274 doi:10.1001/jama.2018.13152.

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.

Fortugno P, Angelucci F, Cestra G, et al.

Human mutation 2019; (40(1)):106-114 doi:10.1002/humu.23678.

An indirect treatment comparison of the efficacy of patisiran and tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy.

Planté-Bordeneuve V, Lin H, Gollob J, et al.

Expert opinion on pharmacotherapy 2019; (20(4)):473-481 doi:10.1080/14656566.2018.1554648.

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.

Hereditary neuropathy with liability to pressure palsies.

Attarian S, Fatehi F, Rajabally YA, Pareyson D

Journal of neurology 2020; (267(8)):2198-2206 doi:10.1007/s00415-019-09319-8.

Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.

Adams D, Koike H, Slama M, Coelho T

Nature reviews. Neurology 2019; (15(7)):387-404 doi:10.1038/s41582-019-0210-4.

Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons.

Manahan ER, Kuerer HM, Sebastian M, et al.

Annals of surgical oncology 2019; (26(10)):3025-3031 doi:10.1245/s10434-019-07549-8.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Lerat J, Magdelaine C, Roux AF, et al.

Molecular genetics & genomic medicine 2019; (7(9)):e839 doi:10.1002/mgg3.839.

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.

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

Human molecular genetics 2019; (28(21)):3528-3542 doi:10.1093/hmg/ddz199.

Novel HDAC6 Inhibitors Increase Tubulin Acetylation and Rescue Axonal Transport of Mitochondria in a Model of Charcot-Marie-Tooth Type 2F.

Adalbert R, Kaieda A, Antoniou C, et al.

ACS chemical neuroscience 2020; (11(3)):258-267 doi:10.1021/acschemneuro.9b00338.

HDAC6 inhibitors: Translating genetic and molecular insights into a therapy for axonal CMT.

Rossaert E, Van Den Bosch L

Brain research 2020; (1733()):146692 doi:10.1016/j.brainres.2020.146692.

Putting the patient at the centre of pathology: an innovative approach to patient education-MyPathologyReport.ca.

Lafreniere A, Purgina B, Wasserman JK

Journal of clinical pathology 2020; (73(8)):454-455 doi:10.1136/jclinpath-2019-206370.

Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care.

Luigetti M, Romano A, Di Paolantonio A, et al.

Therapeutics and clinical risk management 2020; (16()):109-123 doi:10.2147/TCRM.S219979.

Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.

Obici L, Berk JL, González-Duarte A, et al.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2020; (27(3)):153-162 doi:10.1080/13506129.2020.1730790.

Massage therapy treatment and outcomes in a patient with Charcot-Marie-Tooth disease: A case report.

Paz G

Journal of bodywork and movement therapies 2020; (24(2)):130-137 doi:10.1016/j.jbmt.2019.10.014.

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.

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.

Jennings MJ, Lochmüller A, Atalaia A, Horvath R

Journal of neuromuscular diseases 2021; (8(3)):383-400 doi:10.3233/JND-200546.

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.

Identification of Candidate Genes Associated with Charcot-Marie-Tooth Disease by Network and Pathway Analysis.

Zhong M, Luo Q, Ye T, et al.

BioMed research international 2020; (2020()):1353516 doi:10.1155/2020/1353516.

Neuromuscular amyloidosis: Unmasking the master of disguise.

Pinto MV, Dyck PJB, Liewluck T

Muscle & nerve 2021; (64(1)):23-36 doi:10.1002/mus.27150.

Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Sun B, He ZQ, Li YR, et al.

Acta neurologica Belgica 2022; (122(5)):1169-1175 doi:10.1007/s13760-021-01605-5.

A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.

Vujovic D, Cornblath DR, Scherer SS

Journal of the peripheral nervous system : JPNS 2021; (26(2)):184-186 doi:10.1111/jns.12443.

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Perrone F, Cacace R, van der Zee J, Van Broeckhoven C

Genome medicine 2021; (13(1)):59 doi:10.1186/s13073-021-00878-y.

Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.

Hauw F, Fargeot G, Adams D, et al.

European journal of neurology 2021; (28(9)):2846-2854 doi:10.1111/ene.14950.

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.

[An 18-year-old man of hereditary neuropathy with liability to pressure palsies presenting with bilateral brachial plexopathy during military training].

Hatake S, Shimizu F, Oishi M, et al.

Rinsho shinkeigaku = Clinical neurology 2021; (61(10)):676-680 doi:10.5692/clinicalneurol.cn-001619.

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.

[State of corneal nerve fibers in systemic amyloidosis].

Avetisov SE, Surnina ZV, Zinovyeva OE, et al.

Vestnik oftalmologii 2021; (137(5. Vyp. 2)):231-237 doi:10.17116/oftalma2021137052231.

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.

A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.

Morikawa M, Jerath NU, Ogawa T, et al.

The EMBO journal 2022; (41(5)):e108899 doi:10.15252/embj.2021108899.

[Treating hereditary neuropathies : a dream come true?]

Echaniz-Laguna A, Magy L, Vicino A, et al.

Revue medicale suisse 2022; (18(779)):813-816 doi:10.53738/REVMED.2022.18.779.813.

Neurological update: hereditary neuropathies.

Kramarz C, Rossor AM

Journal of neurology 2022; (269(9)):5187-5191 doi:10.1007/s00415-022-11164-1.

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.

Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments: Diagnosis and Operative Management.

Kamath SU, Krishnamurthy SL, Annappa R

Indian journal of orthopaedics 2022; (56(8)):1482-1487 doi:10.1007/s43465-022-00671-y.

Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen.

Coelho T, Waddington Cruz M, Chao CC, et al.

Neurology and therapy 2023; (12(1)):267-287 doi:10.1007/s40120-022-00414-z.

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.

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG, Kwon H, Park JH, et al.

Brain communications 2023; (5(3)):fcad139 doi:10.1093/braincomms/fcad139.

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.

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.

Shchagina O, Orlova M, Murtazina A, et al.

International journal of molecular sciences 2023; (24(12)) doi:10.3390/ijms24129786.

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.

On the path to evidence-based therapy in neuromuscular disorders.

Younger DS

Handbook of clinical neurology 2023; (195()):315-358 doi:10.1016/B978-0-323-98818-6.00007-8.

Variant reclassification and clinical implications.

Walsh N, Cooper A, Dockery A, O'Byrne JJ

Journal of medical genetics 2024; (61(3)):207-211 doi:10.1136/jmg-2023-109488.

Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases.

Krauter D, Stausberg D, Hartmann TJ, et al.

EMBO molecular medicine 2024; (16(3)):616-640 doi:10.1038/s44321-023-00019-5.

Longitudinal artificial intelligence-based deep learning models for diagnosis and prediction of the future occurrence of polyneuropathy in diabetes and prediabetes.

Lai YR, Chiu WC, Huang CC, et al.

Neurophysiologie clinique = Clinical neurophysiology 2024; (54(4)):102982 doi:10.1016/j.neucli.2024.102982.

Surgical Decision Making for Mild-to-Moderate Cubital Tunnel Syndrome.

Onyekwere IC, Victoria C, Kim A, et al.

Journal of hand surgery global online 2024; (6(3)):390-394 doi:10.1016/j.jhsg.2024.02.011.

Loss of YAP in Schwann cells improves HNPP pathophysiology.

Moore SM, Jeong E, Zahid M, et al.

Glia 2024; (72(11)):1974-1984 doi:10.1002/glia.24592.

The evolving spectrum of complex inherited neuropathies.

Rossor AM, Haddad S, Reilly MM

Current opinion in neurology 2024; (37(5)):427-444 doi:10.1097/WCO.0000000000001307.

Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.

Rehbein T, Purks J, Dilek N, et al.

Journal of the peripheral nervous system : JPNS 2024; (29(4)):487-493 doi:10.1111/jns.12662.

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Luglio A, Maggi E, Riviello FN, et al.

Genes 2024; (15(11)) doi:10.3390/genes15111409.

Charcot-Marie-Tooth Disease Presenting in the Postpartum Period: A Case Report.

Ismail H, Anand B, Hughes T, Thomas B

Cureus 2024; (16(12)):e76077 doi:10.7759/cureus.76077.

Electrical storm in a patient with Charcot-Marie-Tooth disease treated with radiofrequency ablation and subsequent serious complication of implantable cardioverter defibrillator implantation: a case report.

Vrtal J, Plášek J, Václavík J, et al.

European heart journal. Case reports 2025; (9(1)):ytae673 doi:10.1093/ehjcr/ytae673.

Talar Morphology of Charcot-Marie-Tooth Patients With Cavovarus Feet.

Peterson AC, Requist MR, Benna JC, et al.

Foot & ankle international 2025; (46(3)):268-274 doi:10.1177/10711007241309915.

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.

Establishment of an In Vitro Disease Model of Charcot-Marie-Tooth Disease using Human Induced Pluripotent Stem Cells.

Liu X, Ishikawa KI, Hattori N, Akamatsu W

Juntendo medical journal 2025; (71(3)):156-157 doi:10.14789/ejmj.JMJ24-0046-R.

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.