Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases
Author:
Funder
NIH
SIMS Family Fund
University of Maine
Publisher
Elsevier BV
Subject
Developmental Biology,Neurology (clinical),Molecular Biology,General Neuroscience
Reference272 articles.
1. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy;Abbott;Hum. Mutat.,2018
2. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype;Abe;J. Hum. Genet.,2009
3. One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia;Abrahao;J. Neurol. Sci.,2016
4. Expanding the phenotype associated with the NEFL mutation neuromuscular disease in a family with overlapping myopathic and neurogenic findings;Agrawal;JAMA Neurol.,2014
5. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis;Al-Chalabi;Hum. Mol. Genet.,1999
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