Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
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
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Vill K et al.
Human Genetics, 2018
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