Associated Papers
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.
Yeow D et al.
Annals of Clinical and Translational Neurology, 2025
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY et al.
European Journal of Neurology, 2024
Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.
Azeem A et al.
Bmc Neurology, 2024
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T et al.
Journal of Neurology, 2024
Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound.
Kneer K et al.
Journal of Neurology, 2024
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort.
Candayan A et al.
Neurology. Genetics, 2021
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Vogel AP et al.
Journal of Neurology, 2018
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M et al.
Orphanet Journal of Rare Diseases, 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y et al.
Parkinsonism & Related Disorders, 2011
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S et al.
The Journal of Molecular Diagnostics : Jmd, 2009
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S et al.
Neurogenetics, 2008
Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
Bouhlal Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child.
Incecik F et al.
Journal of Pediatric Neurosciences, 0