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Novel SACS Variants not Recorded in ClinVar Identified in a Chinese Patient with Late-Onset Hereditary Neuropathy: a Case Report and Literature Review.
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia.
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.