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Abbreviation : CMT1A
Long Form : Charcot-Marie-Tooth neuropathy type 1A
No. Year Title Co-occurring Abbreviation
2018 Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. IPNs, SV, TADs
2013 Ascorbic acid and sodium-dependent vitamin C transporters in the peripheral nervous system: from basic science to clinical trials. PNS, SVCT
2011 Sodium-dependent vitamin C transporter 2 deficiency causes hypomyelination and extracellular matrix defects in the peripheral nervous system. ---
2005 Experimental Charcot-Marie-Tooth type 1A: a cDNA microarrays analysis. PMP22
1999 Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. PMP22
1998 Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. ---
1998 Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat. ---
1996 Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. PMP22
1996 Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages. CIDP, GFAP, PCNA, PMP22
10  1996 Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. HNPP
11  1996 Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients. HNPP, PFGE
12  1995 Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. HNPP, Mb
13  1993 DNA deletion associated with hereditary neuropathy with liability to pressure palsies. HNPP, PMP22
14  1992 Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. CMT1, HMSN I
15  1992 Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. ---