Associated Papers
Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.
Galatolo D et al.
Frontiers in Neuroscience, 2024
38911600 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S1
High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.
Munabi NCO et al.
American Journal of Medical Genetics. Part A, 2022
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Aida I et al.
Internal Medicine (tokyo, Japan), 2021
Progressive myoclonus epilepsy associated with SACS gene mutations.
Nascimento FA et al.
Neurology. Genetics, 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M et al.
Nature Genetics, 2015
Cerebellum and neuropsychiatric disorders: insights from ARSACS.
Mignarri A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014
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
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