Disease: Spastic ataxia Charlevoix-Saguenay type
- <em>In vitro</em> study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients
- A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS
- A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
- A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
- A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay
- A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study
- A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
- A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene
- Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin
- Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS
- An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up
- An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
- An Unusual Fundus Finding in a Teenage Girl
- Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias
- ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India
- Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures
- Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the <em>SACS</em> Gene
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the <em>SACS</em> Gene
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil
- Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
- Cannabis use in patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey
- Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra
- Clinical and molecular studies in two new cases of ARSACS
- Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population
- Clinical Reasoning: Complex ataxia: Unpicking the threads
- Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
- Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study
- Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
- Current and Promising Therapies in Autosomal Recessive Ataxias
- Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay
- Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS)
- Docosahexaenoic acid in ARSACS: observations in two patients
- Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome
- Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish
- Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean
- Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals
- From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy
- Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
- Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene
- Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
- Guidance on medical physics expert support for nuclear medicine
- Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS
- Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay
- Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆
- Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in <em>SACS</em> KO Cell Model
- Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients
- Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Movement disorders in mitochondrial diseases
- MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
- Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization
- Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study
- Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
- Novel Variants in <em>MPV17, PRX, GJB1</em>, and <em>SACS</em> Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
- Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
- Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay
- Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
- Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
- Recessive ataxias
- Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder
- Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients
- Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model
- Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
- Retinal nerve fiber layer thickening in ARSACS carriers
- Sacs R272C missense homozygous mice develop an ataxia phenotype
- Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics
- Short Review: Investigating ARSACS: models for understanding cerebellar degeneration
- Spastic ataxia of Charlevoix-Saguenay: Diagnosis made on fundus examination
- Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review
- Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS
- Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations
- Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events
- Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
- Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings
- Teaching Video Neuro<em>Images</em>: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS
- The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics
- The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
- The J Domain of Sacsin Disrupts Intermediate Filament Assembly
- Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study
- Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood
- Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination
- Wheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study
- Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients