Associated Papers
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
Luo R et al.
Signal Transduction and Targeted Therapy, 2021
34465723 (PubMed )
Supplement: 41392_2021_748_MOESM1_ESM.docx
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Wang JL et al.
Brain : a Journal of Neurology, 2011
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