Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 210,103,932 papers from all fields of science
Search
Sign In
Create Free Account
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
Known as:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC
, CMT2CC
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
3 relations
Autosomal dominant inheritance
Cavovarus deformity of foot
Talipes cavus
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Axonal Charcot‐Marie‐Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH
D. Nam
,
Sung-Chul Jung
,
+7 authors
K. Chung
Journal of the peripheral nervous system
2017
Corpus ID: 8718659
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and…
Expand
2017
2017
CMT2CC family caused by translational elongation of cryptic amyloidogenic element in the 3’-UTR of NEFH
D. Nam
,
S. Park
,
T. H. Kang
,
M. Lee
,
K. Chung
Journal of Neurological Sciences
2017
Corpus ID: 54361551
2017
2017
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death
A. Jacquier
,
Cécile Delorme
,
+12 authors
P. Latour
Acta Neuropathologica Communications
2017
Corpus ID: 256407781
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE