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■ Search Result - Abbreviation : CMT1C

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Abbreviation: CMT1C
Appearance Frequency: 16 time(s)
Long forms: 5

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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
Charcot-Marie-Tooth disease type 1C
(10 times)
(4 times)
LITAF (3 times)
SIMPLE (3 times)
C-rich (1 time)
2005 SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth type 1C
(3 times)
Molecular Biology
(2 times)
LITAF (2 times)
ESCRT (1 time)
MVBs (1 time)
2014 Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein.
Charcot-Marie-Tooth neuropathy type 1C
(1 time)
(1 time)
SIMPLE (1 time)
2004 SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Charcot-Marie-Tooth type 1C disease
(1 time)
(1 time)
PPMS (1 time)
2013 Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.
CMT type 1C
(1 time)
Genetics, Medical
(1 time)
CMT (1 time)
EMP2 (1 time)
2001 Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.