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■ Abbreviation / Long Form : CMT1C / Charcot-Marie-Tooth disease type 1C

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Total Number of Papers: 10
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Abbreviation:   CMT1C  (>> Co-occurring Abbreviation)
Long Form:   Charcot-Marie-Tooth disease type 1C
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No. Year Title Co-occurring Abbreviation
2022 Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation. ---
2020 A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease. ---
2020 A Rare Case of Charcot-Marie-Tooth Disease Type 1C With an Unusual Presentation. CMT1, EMG/NCS, LITAF, SIMPLE
2017 Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. CMT1A, CMTNS, LITAF, SIMPLE
2016 The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C. LITAF, PE
2013 Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C. ---
2012 LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: implications for Charcot-Marie-Tooth disease. ---
2011 Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. C-rich, TMD
2006 SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. SIMPLE
10  2005 SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease. MVBs, TSG101