Associated Papers
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_1
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.
Paprocka J et al.
Frontiers in Genetics, 2021
34912368 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_1
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