Associated Papers
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
Radziwonik W et al.
Journal of Applied Genetics, 2022
Novel mutation in a patient with Charlevoix-Saguenay ataxia-a very rare disease with classical symptoms.
Klimkowicz-Mrowiec A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature.
Chen Y et al.
Frontiers in Neurology, 2022
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
Cheng HL et al.
Translational Neurodegeneration, 2021
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.
Machuca C et al.
Stem Cell Research, 2018
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.
Arellano CM et al.
Stem Cell Research, 2018
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J et al.
Annals of Neurology, 2015
Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.
Li X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
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
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.
Bouhlal Y et al.
Journal of 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