Inherited peripheral neuropathies: a myriad of genes and complex phenotypes
Author:
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/134/6/1587/1067968/awr114.pdf
Reference20 articles.
1. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin
2. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene
3. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
4. Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
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1. Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies;Brain Sciences;2021-09-18
2. Diagnostic utility of exome sequencing for inherited peripheral neuropathies;Neuromuscular Diseases;2020-12-29
3. Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation;Molecular Genetics & Genomic Medicine;2018-03-23
4. Recent advances in Charcot–Marie–Tooth disease;Current Opinion in Neurology;2014-10
5. Animal models and therapeutic prospects for Charcot-Marie-Tooth disease;Annals of Neurology;2013-09
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