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■ Search Result - Abbreviation : CMT2A

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Abbreviation: CMT2A
Appearance Frequency: 74 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 2A
(53 times)
Neurology
(19 times)
Mfn2 (27 times)
MFN (4 times)
HDAC6 (2 times)
1996 Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
CMT2 maps to chromosome 1p36
(5 times)
Neurology
(2 times)
HNPP (5 times)
PMP22 (5 times)
CMT1 (4 times)
1994 Inherited neuropathies.
Charcot-Marie-Tooth neuropathy type 2A
(3 times)
Neurology
(2 times)
ADOA (1 time)
COX (1 time)
Mfn (1 time)
2006 Dysregulation of mitochondrial fusion and fission: an emerging concept in neurodegeneration.
Charcot-Marie-Tooth type 2A disease
(3 times)
Neurology
(2 times)
ANT (1 time)
AR-CMT2A (1 time)
Mfn2 (1 time)
2009 Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.
CMT type 2A
(2 times)
Neurology
(1 time)
CMT (2 times)
Mfn2 (2 times)
hESC (1 time)
2015 Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
caused by mutations in the MFN2 gene
(1 time)
Genetics, Medical
(1 time)
CMT (1 time)
2017 Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.
characteristic of mitofusin 2 mutations
(1 time)
Neurology
(1 time)
--- 2009 Ultrastructural mitochondrial modifications characteristic of mitofusin 2 mutations (CMT2A).
Charcot-Marie-Tooth disease type 2 to chromosome 1p
(1 time)
Neurology
(1 time)
CMT2 (1 time)
1997 Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A.
Charcot-Marie-Tooth type 2 disease-linked mutations in Mfn2
(1 time)
Cell Biology
(1 time)
--- 2019 Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2.
10  Charcot-Marie-Tooth type 2A neuropathy
(1 time)
Medicine
(1 time)
MEF (1 time)
Mfn2 (1 time)
PGC-1alpha (1 time)
2015 Mitofusin 2 Deficiency Affects Energy Metabolism and Mitochondrial Biogenesis in MEF Cells.
11  CMT2 has been assigned for chromosome 1p
(1 time)
Neurology
(1 time)
CMT1 (1 time)
CMT2 (1 time)
HNPP (1 time)
1994 Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.
12  CMT2 loci have been located on chromosomes 1p35-p36
(1 time)
Neurology
(1 time)
CMT2 (1 time)
HMSN II (1 time)
HSN I (1 time)
1997 Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
13  CMT2 with linked families localizing to chromosome 1p
(1 time)
Genetics
(1 time)
CMT (1 time)
2000 Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.