Associated Papers
Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.
Huang X et al.
Cerebellum (london, England), 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › ONM_proteins
SYNE1-ataxia: Novel genotypic and phenotypic findings.
Indelicato E et al.
Parkinsonism & Related Disorders, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1
Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population.
Peng Y et al.
Frontiers in Neurology, 2018
30619065 (PubMed )
Supplement: Data_Sheet_1.PDF
SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.
Gama MT et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
Mademan I et al.
Brain : a Journal of Neurology, 2016
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