Previtali, Stefano C

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