Associated Papers
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
A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia.
Malaguti MC et al.
Journal of Movement Disorders, 2024
37704566 (PubMed )
Supplement: jmd-23125-Supplementary-Table-1.pdf
Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.
Aloisio S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer's Disease.
Shim KH et al.
International Journal of Molecular Sciences, 2022
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism.
Chen Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism.
Gatto EM et al.
Parkinsonism & Related Disorders, 2020
Extended Study of NUS1 Gene Variants in Parkinson's Disease.
Yuan L et al.
Frontiers in Neurology, 2020
33193043 (PubMed )
Supplement: Table_1.doc
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