Associated Papers
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
Beijer D et al.
Ebiomedicine, 2025
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_2
Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report.
Huang Y et al.
Translational Pediatrics, 2024
Unraveling haplotype errors in the DFNA33 locus.
Vona B et al.
Frontiers in Genetics, 2023
37671045 (PubMed )
Supplement: Table2.XLSX › Tabelle1
Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature.
Khan HH et al.
Transplantation Proceedings, 2019
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