A Large Panel of Isogenic APP and PSEN1 Mutant Human iPSC Neurons Reveals Shared Endosomal Abnormalities Mediated by APP β-CTFs, Not Aβ
2019· article· en· Neuron· Medicine
fundno affno abstract
332
citations
Works
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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
2008· article· en· Neurobiology of Aging· Medicine
afffundno abstract
219
citations
Early-Onset Familial Alzheimer's Disease (EOFAD)
2012· review· en· Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques· Medicine
afffundvenue
218
citations
Contributions of DNA Damage to Alzheimer’s Disease
2020· review· en· International Journal of Molecular Sciences· Medicine
afffund
116
citations
Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study
2006· article· en· Brain· Medicine
aff
110
citations
Mutations in progranulin explain atypical phenotypes with variants in MAPT
2006· letter· en· Brain· Medicine
aff
98
citations
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
2015· article· en· European Journal of Human Genetics· Biochemistry, Genetics and Molecular Biology
affno abstract
97
citations
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases
2020· article· en· Alzheimer s & Dementia· Medicine
aff
79
citations
Molecular genetics of Alzheimerʼs disease: the role of β-amyloid and the presenilins
2000· review· en· Current Opinion in Neurology· Medicine
aff
79
citations
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling
2018· article· en· Molecular Psychiatry· Medicine
afffundno abstract
67
citations
The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers
2013· article· en· PLoS Genetics· Medicine
fundno aff
63
citations
Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study
2022· article· en· The Lancet Neurology· Medicine
fundno affno abstract
56
citations
High Soluble Amyloid-β42 Predicts Normal Cognition in Amyloid-Positive Individuals with Alzheimer’s Disease-Causing Mutations
2022· article· en· Journal of Alzheimer s Disease· Medicine
fundno aff
55
citations
CRISPR-Cas9 treatment partially restores amyloid-β 42/40 in human fibroblasts with the Alzheimer’s disease PSEN1 M146L mutation
2022· article· en· Molecular Therapy — Nucleic Acids· Biochemistry, Genetics and Molecular Biology
aff
50
citations
Mutation analysis of patients with neurodegenerative disorders using NeuroX array
2014· article· en· Neurobiology of Aging· Medicine
afffundno abstract
48
citations
Metabolomic and lipidomic signatures in autosomal dominant and late‐onset Alzheimer's disease brains
2022· article· en· Alzheimer s & Dementia· Neuroscience
fundno aff
36
citations
Differential Expression and miRNA–Gene Interactions in Early and Late Mild Cognitive Impairment
2020· article· en· Biology· Biochemistry, Genetics and Molecular Biology
fundno aff
29
citations
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease
2018· article· en· Frontiers in Neuroscience· Medicine
fundaboutno aff
28
citations
Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease
2016· article· en· BMC Medical Genomics· Medicine
fundno aff
27
citations
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease
2019· article· en· Journal of Alzheimer s Disease· Biochemistry, Genetics and Molecular Biology
afffund
26
citations
Alzheimer’s disease: a tale of two diseases?
2021· review· en· Neural Regeneration Research· Medicine
aff
26
citations
A novel presenilin 2 mutation (V393M) in early‐onset dementia with profound language impairment
2008· article· en· European Journal of Neurology· Medicine
aff
24
citations
Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole‐genome sequencing from the Alzheimer's Disease Sequencing Project
2024· article· en· Alzheimer s & Dementia· Biochemistry, Genetics and Molecular Biology
aff
21
citations
The landscape of autosomal-dominant Alzheimer’s disease: global distribution and age of onset
2025· article· en· Brain· Biochemistry, Genetics and Molecular Biology
afffund
16
citations
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder
2018· article· en· Journal of Movement Disorders· Biochemistry, Genetics and Molecular Biology
afffund
15
citations