A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Cerebrospinal fluid tau and amyloid-β_1-42in patients with dementia

Tobias Skillbäck, Bahman Farahmand, Christoffer Rosén et al. · Brain · 2015 · 221 citations

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Plasma tau complements CSF tau and P‐tau in the diagnosis of Alzheimer's disease

Silvia Fossati, Jaime Ramos‐Cejudo, Ludovic Debure et al. · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · 2019 · 135 citations · Full text

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Novel Presenilin 1 Mutation (S170F) Causing Alzheimer Disease With Lewy Bodies in the Third Decade of Life

B. Joy Snider, Joanne Norton, Mary A. Coats et al. · Archives of Neurology · 2005 · 130 citations

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Presenilins at the crossroad of a functional interplay between PARK2/PARKIN and PINK1 to control mitophagy: Implication for neurodegenerative diseases

Frédéric Checler, Thomas Goiran, Cristine Alvès da Costa · Autophagy · 2017 · 47 citations · Full text

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