Expanding the spectrum of genes responsible for hereditary motor neuropathies. [electronic resource]
- Journal of neurology, neurosurgery, and psychiatry 10 2019
- 1171-1179 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-330X
10.1136/jnnp-2019-320717 doi
Adult Aged Agrin--genetics Charcot-Marie-Tooth Disease--genetics Computational Biology DNA Repair Enzymes--genetics Female High-Throughput Nucleotide Sequencing Humans Intracellular Signaling Peptides and Proteins--genetics Male Middle Aged Multienzyme Complexes--genetics Muscle Proteins--genetics Muscular Atrophy, Spinal--genetics Pedigree Phosphotransferases (Alcohol Group Acceptor)--genetics Protein Serine-Threonine Kinases--genetics Receptors, sigma--genetics Rho Guanine Nucleotide Exchange Factors--genetics Exome Sequencing Sigma-1 Receptor