In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

• Autori principali: Aurélie Louit (Autore), Marie-Josée Beaudet (Autore), Mathieu Blais (Autore), François Gros-Louis (Autore), Nicolas Dupré (Autore), François Berthod (Autore)
• Natura: Libro
• Pubblicazione: Hindawi Limited, 2023-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease mainly characterized by spasticity in the lower limbs and poor muscle control. The disease is caused by mutations in the SACS gene leading in most cases to a loss of function of the sacsin...