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
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
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
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
Mademan I et al.
Brain : a Journal of Neurology, 2016
Select a paper to view details