ArticleAlzheimer's & dementia (Amsterdam, Netherlands)2021
Spastic paraplegia preceding
Article in Alzheimer's & dementia (Amsterdam, Netherlands), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 21 citations in OpenAlex.
- A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.Clinical genetics · 2026Article
- The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Review
- Novel Association of theJournal of clinical medicine · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.Alzheimer's research & therapy · 2025Article
- Investigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort.Annals of clinical and translational neurology · 2025Article
- RaiLED-AD: Rationale-Guided Knowledge Transfer for Alzheimer's Disease Prediction from Electronic Health Records.Proceedings. IEEE International Conference on Bioinformatics and Biomedicine · 2025Article
- Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.International journal of molecular sciences · 2023Review
- Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.Dementia & neuropsychologia · 2023Review
- Characterization of spastic paraplegia in a family with a novelBrain communications · 2023Article
- Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant inMovement disorders clinical practice · 2023Article
- PS1 Affects the Pathology of Alzheimer's Disease by Regulating BACE1 Distribution in the ER and BACE1 Maturation in the Golgi Apparatus.International journal of molecular sciences · 2022Article
- Spastic paraplegia precedingAlzheimer's & dementia (Amsterdam, Netherlands) · 2021Article
- A novel PSEN1 (p.Gln223Leu) variant associated with spastic paraparesis and early-onset Alzheimer's disease.Journal of Alzheimer's disease reportsArticle
Corrections and comments
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Authors and funding
24 authors at 14 institutions in 8 countries.
Funding
Abstract
introductionWe investigated the frequency, neuropathology, and phenotypic characteristics of spastic paraplegia (SP) that precedes dementia in presenilin 1 (
methodsWe performed whole exome sequencing (WES) in 60 probands with hereditary spastic paraplegia (HSP) phenotype that was negative for variants in known HSP-related genes. Where
resultsWe identified a DISCUSSION: We show that pure SP can precede dementia onset in
Indexed as
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.