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
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...
Saved in:
Main Authors: | Aurélie Louit, Marie-Josée Beaudet, Mathieu Blais, François Gros-Louis, Nicolas Dupré, François Berthod |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2023-01-01
|
Series: | Stem Cells International |
Online Access: | http://dx.doi.org/10.1155/2023/1496597 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
by: Diana Mokhtari, et al.
Published: (2024-08-01) -
Subtle changes in Purkinje cell firing in Purkinje cell-specific Dyt1 ΔGAG knock-in mice
by: Hong Xing, et al.
Published: (2025-01-01) -
Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy
by: Neha Goel
Published: (2025-01-01) -
CGRP and Adrenomedullin Modulate Synaptic Transmission in Purkinje Cells
by: H. Cater, et al.
Published: (2001-01-01) -
Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases
by: Hassan Khojasteh, et al.
Published: (2021-01-01)