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Journal article

Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations

Abstract:

Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerve disorder caused by dominant, toxic, gain-of-function mutations in the widely expressed, housekeeping gene, GARS The mechanisms underlying selective nerve pathology in CMT2D remain unresolved, as does the cause of the mild-to-moderate sensory involvement that distinguishes CMT2D from the allelic disorder distal spinal muscular atrophy type V. To elucidate the mechanism responsible for the underlying afferent nerve pathology, we ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1073/pnas.1614557114

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Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
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Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
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Funding agency for:
Sleigh, JN
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Publisher:
National Academy of Sciences Publisher's website
Journal:
Proceedings of the National Acadademy of Sciences Journal website
Volume:
114
Issue:
16
Pages:
E3324-E3333
Publication date:
2017-03-28
Acceptance date:
2017-03-06
DOI:
ISSN:
1091-6490
Pubs id:
pubs:687722
URN:
uri:dbd0d8e6-e2c0-470c-a240-e7f9e188cf97
UUID:
uuid:dbd0d8e6-e2c0-470c-a240-e7f9e188cf97
Local pid:
pubs:687722

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