Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
41239557 (PubMed )
Supplement: awaf430_supplementary_data.pdf
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf
Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.
Nan H et al.
Alzheimer's Research & Therapy, 2025
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
34389718 (PubMed )
Supplement: 41525_2021_235_MOESM1_ESM.docx
Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.
Li XY et al.
Alzheimer Disease and Associated Disorders, 0
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