Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication
Laura Libonati, Chiara Cambieri, Davide Colavito, Federica Moret, Edoardo D’Andrea, Elda Del Giudice, Alberta Leon, Maurizio Inghilleri, Marco Ceccanti
Topics & Concepts
Amyotrophic lateral sclerosisC9orf72Genetic testingMedicineTARDBPSOD1DiseaseMedical geneticsTrinucleotide repeat expansionGeneticsEtiologyNeuromuscular diseaseGenetic heterogeneityHereditary spastic paraplegiaBioinformaticsFrontotemporal dementiaInternal medicineBiologyGeneAlleleDementiaPhenotypeAmyotrophic Lateral Sclerosis ResearchHereditary Neurological DisordersGenetic Neurodegenerative Diseases