Neurological update: hereditary neuropathies-Reference-Cited by-同舟云学术

Neurological update: hereditary neuropathies

Published:2022-05-21 Issue:9 Volume:269 Page:5187-5191
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Kramarz Caroline,Rossor Alexander M.

Abstract

AbstractIn this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in hereditary neuropathy including the use of lipid nanoparticle sequestered antisense oligonucleotides in CMT1A and lipid nanoparticle delivered CRISPR-Cas9 gene editing in ATTR amyloidosis.

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-022-11164-1.pdf

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