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■ Search Result - Abbreviation : CMT1A

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Abbreviation: CMT1A
Appearance Frequency: 369 time(s)
Long forms: 13

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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
Charcot-Marie-Tooth disease type 1A
(323 times)
Neurology
(166 times)
HNPP (76 times)
PMP22 (67 times)
CMTNS (19 times)
1991 Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.
Charcot-Marie-Tooth neuropathy type 1A
(17 times)
Neurology
(8 times)
PMP22 (5 times)
HNPP (4 times)
CMT1 (2 times)
1990 Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.
CMT type 1A
(14 times)
Neurology
(5 times)
CMT (12 times)
PMP22 (5 times)
HNPP (3 times)
1992 Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
CMT1 loci map to chromosome 17
(3 times)
Neurology
(2 times)
PMP22 (3 times)
CMT1 (2 times)
CMT2 (2 times)
1995 [Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].
caused by a dominantly inherited 1.5-Mb duplication at 17p11.2-12
(2 times)
Neurology
(1 time)
CMT (1 time)
CMT1 (1 time)
HNPP (1 time)
2001 Molecular genetic analysis of Charcot-Marie-Tooth 1A duplication in Norwegian patients by quantitative photostimulated luminescence imaging.
Charcot-Marie-Tooth disease type 1 duplication
(2 times)
Biology
(1 time)
MRI (1 time)
2009 Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.
CMT disease type 1A
(2 times)
Neurology
(2 times)
CMT (2 times)
CMTX (1 time)
2003 Coexistent hereditary and inflammatory neuropathy.
Charcot-Marie-Tooth 1A patients
(1 time)
Neurology
(1 time)
--- 2010 Charcot-Marie-Tooth 1A patients with low level of impairment have a higher energy cost of walking than healthy individuals.
Charcot-Marie-Tooth resulting from 17p11.2-p12 duplication
(1 time)
Neurology
(1 time)
--- 2013 Quality of life in patients with Charcot-Marie-Tooth disease type 1A.
10  Charcot-Marie-Tooth type-1A neuropathy
(1 time)
Genetics, Medical
(1 time)
FISH (1 time)
NCVs (1 time)
1996 Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
11  CMT1 patients have a 1.5Mb tandem duplication
(1 time)
Genetics, Medical
(1 time)
CMT1 (1 time)
HNPP (1 time)
1997 Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
12  CMT1A being predominant
(1 time)
Physical Medicine
(1 time)
CMT (1 time)
CRMD (1 time)
DETD (1 time)
2012 Pain assessment in Charcot-Marie-Tooth (CMT) disease.
13  cosegregates with a 1.5-Mb duplication on chromosome 17p11.2
(1 time)
Genetics, Medical
(1 time)
CMT1 (1 time)
HMSN I (1 time)
PMP22 (1 time)
1994 Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.