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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
Known as:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G, FORMERLY
, CMT2G, FORMERLY
, CMT2P
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National Institutes of Health
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Related topics
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7 relations
Autosomal dominant inheritance
Autosomal recessive inheritance
Foot Deformities
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot–Marie–Tooth disease 2P
Johanna E. Hakonen
,
V. Sorrentino
,
+8 authors
M. Weterman
Human Molecular Genetics
2017
Corpus ID: 20330886
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor…
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2017
2017
LRSAM 1-mediated ubiquitylation is disrupted in axonal Charcot – Marie – Tooth disease 2 P
Johanna E. Hakonen
,
V. Sorrentino
,
+8 authors
M. Weterman
2017
Corpus ID: 189811942
Charcot–Marie–Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor…
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2016
2016
A novel missense mutation of CMT2P alters transcription machinery
B. Hu
,
S. Arpag
,
S. Zuchner
,
Jun Li
Annals of Neurology
2016
Corpus ID: 1332243
Charcot–Marie–Tooth type 2P (CMT2P) has been associated with frameshift mutations in the RING domain of LRSAM1 (an E3 ligase…
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