Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali Stefano CarloEdward ZhaoDejan LazarevicGiovanni Battista PipitoneGian Maria FabriziFiore ManganelliAnna MazzeoDavide PareysonAngelo SchenoneFranco TaroniGiuseppe VitaEmilia BelloneMoreno FerrariniMatteo GaribaldiStefania MagriLuca PaduaElena PennisiChiara PisciottaNilo RivaVidmer ScaioliMarina ScarlatoStefano TozzaAlessandro GeroldiAlbena JordanovaMaurizio FerrariIvan MolinerisAlexander Martin RossorGiancarlo ComiPaola CarreraMarcella DevotoAlessandra BolinoPublished in: Journal of neurology, neurosurgery, and psychiatry (2019)
These results demonstrate the broad spectrum of clinical phenotypes that can be associated with a specific disease gene, as well as the complexity of the pathogenesis of neuromuscular disorders.