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Abbreviation : CMT1A
Long Form : CMT type 1A
No. Year Title Co-occurring Abbreviation
2022 Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages CMT, IPNs
2022 Theophylline Induces Remyelination and Functional Recovery in a Mouse Model of Peripheral Neuropathy. CMT, PMP22
2021 A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy. CMT, PMP22, SOX10, WS
2021 A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot-Marie-Tooth disease type 1A. CMT, HDAC6
2020 Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A. CMAP, CMT, MSTN, NCV, sh
2018 The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM). CMT-FOM, CMTES
2016 Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. CMT, CMTPedS
2011 Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. CMT, HNPP, PMP22
2010 Determinants of reduced health-related quality of life in pediatric inherited neuropathies. CMT, QoL
10  2007 Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR. CMT, HNPP
11  1999 Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. CMT, HMSN, PMP22
12  1997 Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations. CMT, FISH, HNPP, PMP22
13  1996 Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. CMT1B, DSS, MPZ, MPZ
14  1992 Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. CMT, NCV, Tr, TrJ