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■ Abbreviation / Long Form : CMT1 / Charcot-Marie-Tooth disease type 1

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Total Number of Papers: 47
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Abbreviation:   CMT1  (>> Co-occurring Abbreviation)
Long Form:   Charcot-Marie-Tooth disease type 1
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No. Year Title Co-occurring Abbreviation
2020 Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations. ---
2020 New evidence for secondary axonal degeneration in demyelinating neuropathies. AIDP, CIDP, HNPP, PNS, SC
2014 A case of cauda equina syndrome in early-onset chronic inflammatory demyelinating polyneuropathy clinically similar to charcot-marie-tooth disease type 1. CES, CIDP, ivIgG
2014 A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. ---
2014 Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene. HNPP
2013 Electrophysiological evaluation of chronic inflammatory demyelinating polyneuropathy and charcot-marie-tooth type 1: dispersion and correlation analysis. CIDP, CMAP, MNCV, NCS, PFGE, PMP22
2012 A novel system to accelerate the progression of nerve degeneration in transgenic mouse models of neuropathies. ---
2012 Genetic epidemiology of Charcot-Marie-Tooth disease. CMT, CMT2, Cx32, dHMN, DSS, EGR2, Mfn2, MPZ, PMP22, SIMPLE
10  2011 [Studies of electromyography and genetics in children with Charcot-Marie-Tooth disease type 1]. PCR
11  2008 Immune effects of mesenchymal stem cells: implications for Charcot-Marie-Tooth disease. GVHD, MSC
12  2008 Increased prevalence of obstructive sleep apnoea in patients with Charcot-Marie-Tooth disease: a case control study. AHI, BMI, OSA
13  2006 Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. ---
14  2005 Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A. NRGs, SCs
15  2004 Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. bp, MPZ, PMP22, SSCP
16  2003 Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. Cx32, DGGE, EGR2, MPZ, PMP22
17  2001 A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1. EGR2
18  2001 A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. PMP22
19  2001 Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. CMT2, CMTX, GJB1, MPZ, PMP22
20  2000 Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Egr2, PMP22
21  2000 Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. CIDP, HMSN I, HNPP, MAG, PMP22
22  2000 Expression pattern of the peripheral myelin protein 22kDa (PMP22) in neural and non-neural tissue types of adult wildtype and Trembler mice--a comparative study. PMP22, PNS, RISH, Tr, WT
23  2000 Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. PMP22
24  2000 Macro-EMG and muscle biopsy of paretic foot dorsiflexors in Charcot-Marie-Tooth disease. macro-EMG, TA
25  2000 Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR. CMT1A-REP, dddPCR, HNPP, PMP22
26  1999 A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. CMT2, EGR2, HMSN I, HMSN II, MPZ, PMP22
27  1999 Analysis of sensory function in Charcot-Marie-Tooth disease. VT
28  1999 Charcot-Marie-Tooth disease type 1 and 2-an immunohistochemical study of muscle fibre cytoskeletal proteins and a marker for muscle fibre regeneration. HMSN
29  1999 Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. CH, DSS, EGR2, HNPP, PMP22, PNS
30  1998 Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. HNPP
31  1998 Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. HMSN I, HNPP
32  1998 Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). ---
33  1997 Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions. HNPP, PMP22
34  1996 A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Dejerine-Sottas syndrome patients. DSS, HMSN, SSCP
35  1995 Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. HMSN
36  1994 Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. ---
37  1994 Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. HMSN I
38  1994 Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. ---
39  1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. PMP22
40  1993 Pregnancy and delivery in Charcot-Marie-Tooth disease type 1. ---
41  1993 Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a. HNPP
42  1993 Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. ---
43  1992 Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1). HMSN I
44  1992 Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. HMSN I
45  1992 Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. CMT1A, HMSN I
46  1991 Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. CMT1A, HMSN I
47  1988 DNA probes in Charcot-Marie-Tooth neuropathy. ---