Associated Papers
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.
Carretero-Vilarroig L et al.
European Journal of Neurology, 2026
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
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
Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Douglas VP et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2021
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.
Mutlu-Albayrak H et al.
Neurogenetics, 2020
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