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■ Abbreviation / Long Form : CMT1A / Charcot-Marie-Tooth disease type 1A

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Abbreviation:   CMT1A  (>> Co-occurring Abbreviation)
Long Form:   Charcot-Marie-Tooth disease type 1A
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
1  2022 A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. AAV9
2  2022 Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A. ACT-CMT, ACT-CMT
3  2022 Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A. ---
4  2022 Alpha-1 Antitrypsin Reduces Disease Progression in a Mouse Model of Charcot-Marie-Tooth Type 1A: A Role for Decreased Inflammation and ADAM-17 Inhibition. AAT, AATD, ER, hAAT, rhAAT
5  2022 Candidate imaging biomarkers for PMP22-related inherited neuropathies. CMAP, CMTESL, CSA, HNPP, ICC, MCV, MRI, MTR, PMP22
6  2022 Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies. HNPP, PMP22
7  2022 Feasibility of simultaneous high-resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot-Marie-Tooth type 1A (CMT1A) at 7T. ADC, CMT, CMTES, DESS, MRI
8  2022 Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients. CMT1E, HNPP, PMP22, TS, WES
9  2022 Physical and Mental Aspects of Quality of Life in Patients With Charcot-Marie-Tooth Disease Type 1A. BDI, CMTES, FSS, MRC, ONLS, QoL
10  2022 SARM1 knockout does not rescue neuromuscular phenotypes in a Charcot-Marie-Tooth disease Type 1A mouse model. ---
11  2022 Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice. ER, MPZ, PMP22, UPR
12  2022 Utility of carpal tunnel release and ulnar decompression in CMT1A and HNPP. HNPP
13  2021 A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A. ---
14  2021 AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A. ---
15  2021 Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases. AT, CPET, IBM, MHR, RER
16  2021 Employment status of patients with Charcot-Marie-Tooth type 1A. BDI, CMTES, CMTNS, FES, FSS, MRC, ONLS
17  2021 Genome-Edited Coincidence and PMP22-HiBiT Fusion Reporter Cell Lines Enable an Artifact-Suppressive Quantitative High-Throughput Screening Strategy for PMP22 Gene-Dosage Disorder Drug Discovery. PMP22, qHTS
18  2021 High-density surface electromyography to assess motor unit firing rate in Charcot-Marie-Tooth disease type 1A patients. IFRs, MU, MVC, pps, surface-EMG
19  2021 Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients. CMTNSv2, CSA, FF
20  2021 MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A. miRs, TMPRSS5
21  2021 Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A. ---
22  2021 Quantitative assessment of muscle echogenicity in Charcot-Marie-Tooth disease type 1A by automatic thresholding methods. CMTNS
23  2021 Reference values for lower limb nerve ultrasound and its diagnostic sensitivity. CIDP, CSA
24  2021 Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A. ---
25  2021 The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease. CMTNS, SD, SF-36, SS, WLL, WUL
26  2020 A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. CMTNS-R and CMTES-R
27  2020 Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A. anti-AQP4, CNS, NMOSD
28  2020 Charcot-Marie-Tooth disease type 1A: Longitudinal change in nerve ultrasound parameters. CMTNS, CSA
29  2020 Diffuse brain connectivity changes in Charcot-Marie-Tooth type 1a patients: a resting-state functional magnetic resonance imaging study. FC, rs-fMRI, SN, SN
30  2020 Exploiting Sphingo- and Glycerophospholipid Impairment to Select Effective Drugs and Biomarkers for CMT1A. GP, SP
31  2020 High glucose level as a modifier factor in CMT1A patients. DM, IGT
32  2020 Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements. HNPP
33  2020 Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A. BDI, CMTNS, FES, FSS, HNPP, MRC, ONLS, QoL
34  2020 Quantitative assessment of sciatic nerve changes in Charcot-Marie-Tooth type 1A patients using magnetic resonance neurography. MRI
35  2020 Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients. CMTES, CMTES-R, CMTNS
36  2020 Synergistic PXT3003 therapy uncouples neuromuscular function from dysmyelination in male Charcot-Marie-Tooth disease type 1A (CMT1A) rats. DRG, NMJs
37  2019 Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A). ---
38  2019 Foot Function Index: A Promising Questionnaire forIndividuals With Charcot-Marie-Tooth Disease Type 1A. FFI, SF-36
39  2019 miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22. 3'UTR, PMP22, qRT-PCR
40  2019 Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. GWAS
41  2019 Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A. CMTNS2, CSA, HRUS, NCS
42  2019 Neuropathic pain in patients with Charcot-Marie-Tooth type 1A. CMTNS, IASP, MRC, NeP, ONLS, PDQ
43  2019 NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies. NRG1-I
44  2019 Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot-Marie-Tooth disease 1A. CMT-NSv2
45  2019 Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice. PMP22, PNS
46  2019 Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. SIPA1L2
47  2018 A dual role for Integrin alpha6beta4 in modulating hereditary neuropathy with liability to pressure palsies. HNPP, PMP22
48  2018 Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A. ---
49  2018 Charcot‑Marie‑Tooth type 1A drug therapies: role of adenylyl cyclase activity and G‑protein coupled receptors in disease pathomechanism. GPCRs, mACh, mPR
50  2018 Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity. CSA, DSD
51  2018 Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A. BDNF, GDNF, GFAP, NGFR, S100B, SC, T-MSC-SCs, T-MSCs, TrJ
52  2018 Fits, feet and HIV: lessons from a case of coexisting epilepsy and neuropathy in a patient with perinatally acquired HIV-1 infection. ---
53  2018 Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A. SRD, TMD
54  2018 Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder. IENFD, LCs
55  2018 Soluble Neuregulin1 is strongly up-regulated in the rat model of Charcot-Marie-Tooth 1A disease. NRG1
56  2018 Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy. ---
57  2018 Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. FF
58  2017 A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis. HNPP, PMP22, T2DM
59  2017 A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients. CMTNS
60  2017 Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A. ASOs, PMP22
61  2017 Application of differentiated human tonsil-derived stem cells to trembler-J mice. MSCs, T-MSC myocytes, T-MSCs, TrJ
62  2017 Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. ---
63  2017 Caveats in the Established Understanding of CMT1A. c17p12
64  2017 Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score. BMI, CMTES
65  2017 Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. CMT1C, CMTNS, LITAF, SIMPLE
66  2017 Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort. PMP22
67  2017 Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients. gas3, PMP22
68  2017 Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2. RTD2
69  2017 Magnetic resonance neurography and diffusion tensor imaging of the peripheral nerves in patients with Charcot-Marie-Tooth Type 1A. ADC, DTI, FA, HCs, MRN, PD
70  2017 Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs. hiPSC, NCSCs
71  2017 Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients. CMTNS, SF-36
72  2017 Multiple Sites Ultrasonography of Peripheral Nerves in Differentiating Charcot-Marie-Tooth Type 1A from Chronic Inflammatory Demyelinating Polyradiculoneuropathy. CIDP, CSA, HC
73  2017 Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients. CRL, MI, MO, SE
74  2017 PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. ASOs, CMAP, MNCV, PMP22
75  2017 Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A). CMT, CMT, HMSN
76  2016 Handwriting difficulties of children with Charcot-Marie-Tooth disease type 1A. ---
77  2016 Tolerability and efficacy study of P2X7 inhibition in experimental Charcot-Marie-Tooth type 1A (CMT1A) neuropathy. CMAP, SC
78  2015 Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats. HMSN, HNPP
79  2015 Charcot-Marie-Tooth 1A: A narrative review with clinical and anatomical perspectives. ---
80  2015 Coexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study. CMTNS, DM
81  2015 Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family. PMP22
82  2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. LCR, PTLS
83  2015 Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A. CSA
84  2015 Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. AHI, CMAP, CMT-NS
85  2015 [Ascorbic Acid and Charcot-Marie-Tooth Disease]. ---
86  2014 Amount and intensity of daily living activities in Charcot-Marie-Tooth 1A patients. ---
87  2014 An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. CMTNS, HD, ONLS
88  2014 Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A. ---
89  2014 Detection of copy number variation by SNP-allelotyping. CNV, SNP
90  2014 Electromyographic tendon reflex recording: An accurate and comfortable method for diagnosis of charcot-marie-tooth disease type 1a. T-reflex
91  2014 Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. ---
92  2014 Interventions for fatigue in peripheral neuropathy. CI, GBS, OR, RCTs, SMD
93  2014 Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. ---
94  2014 Optic and auditory pathway dysfunction in demyelinating neuropathies. CIDP, HNPP, MAG
95  2014 Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease. HNPP, PMP22
96  2014 PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker. ---
97  2014 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. HNPP
98  2014 Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy. ---
99  2014 Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice. PMP22, TrJ, WT
100  2014 Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients. 9HPT, CMAP, CMT, SNAP, T10MW