Associated Papers
Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.
Huang X et al.
Cerebellum (london, England), 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Novis LE et al.
Parkinsonism & Related Disorders, 2024
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.
Arias M et al.
Neurologia, 2022
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.
Arias M et al.
Neurologia, 2022
Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family.
Qian N et al.
Frontiers in Genetics, 2022
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