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Last Updated: 10/31/2025
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Found 157 publications
Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 1: Disease Severity, Swallowing, Upper Limb Function, and Participation.
Journal: Cerebellum (London, England)
Published: May 16, 2025
Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination.
Journal: Cerebellum (London, England)
Published: April 25, 2025
Current and future applications of brain magnetic resonance imaging in ARSACS.
Journal: Cerebellum (London, England)
Published: April 17, 2025
Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay.
Journal: Archives of biochemistry and biophysics
Published: March 11, 2025
A Tailored Home-Based Training Program Improved Ataxia Severity and Participation in Adults With ARSACS.
Journal: Cerebellum (London, England)
Published: March 04, 2025
A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: February 18, 2025
Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Journal: BMC medical genomics
Published: February 17, 2025
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region.
Journal: Sultan Qaboos University medical journal
Published: February 11, 2025
S100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Journal: Molecular neurobiology
Published: February 06, 2025
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Journal: Cerebellum (London, England)
Published: January 15, 2025
ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.
Journal: Cerebellum (London, England)
Published: December 17, 2024
Altered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin.
Journal: International journal of molecular sciences
Published: November 04, 2024
Last Updated: 10/31/2025