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

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Total Number of Papers: 19
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Abbreviation:   CMT1  (>> Co-occurring Abbreviation)
Long Form:   Charcot-Marie-Tooth type 1
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No. Year Title Co-occurring Abbreviation
2015 Neuroregenerative Effect of Oxandrolone: A Case Report. ---
2014 Nonuniform molecular features of myelinating Schwann cells in models for CMT1: distinct disease patterns are associated with NCAM and c-Jun upregulation. SLI, WT
2013 Similarities between inherited demyelinating neuropathies and Wallerian degeneration: an old repair program may cause myelin and axon perturbation under nonlesion conditions. WD
2011 The phenotype of the Gly94fsX222 PMP22 insertion. HNPP
2009 A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies. HNPP
2009 Differential gene expression in chronic inflammatory demyelinating polyneuropathy (CIDP) skin biopsies. AIF-1, CIDP, FYB, P2RY1, qPCR
2005 Charcot-Marie-Tooth Disease type 1 and pediatric true vocal fold paralysis. FEES
2004 Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). HMSN
2004 Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients. ---
10  2001 Molecular genetic analysis of Charcot-Marie-Tooth 1A duplication in Norwegian patients by quantitative photostimulated luminescence imaging. CMT1A, PSL
11  2001 Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. Cx32, HNPP, MPZ, PMP22
12  2000 Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. CMT, CMT1A, HNPP
13  1999 A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. HMSN
14  1999 Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. DSS, EGR2, MPZ, PMP22
15  1998 Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. CHN, EGR2, PNS
16  1996 Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Cx32, HNPP, MPZ, PMP22
17  1995 Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene. ---
18  1995 Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. PMP22, Po
19  1994 Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. CMT1A, HMSN I, PMP22