A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism-Reference-Cited by-同舟云学术

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

Published:2020-08 Issue: Volume:77 Page:21-25
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Gatto Emilia M.,Rojas Galeno J.,Nemirovsky Sergio I.,Da Prat Gustavo,Persi Gabriel,Cesarini Martin,Etcheverry Jose L.,Rojas Natalia Gonzalez,Parisi Virginia,Cordoba Marta,Sevlever Gustavo,Allegri Ricardo F.,Turjanski Adrian G.

Funder

Consejo Nacional de Investigaciones Científicas y Técnicas

Agencia Nacional de Promoción Científica y Tecnológica

ANPCyT

Ministry of Science and Technology

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference16 articles.

1. Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease;Hunter;Mol. Psychiatr.,2018

2. Juvenile Parkinsonism: differential diagnosis, genetics, and treatment;Niemann;Park. Relat. Disord.,2019

3. Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization;Shen;Biochem. Biophys. Res. Commun.,2019

4. Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation;Carecchio;Neurogenetics,2017

5. Dopa responsive parkinsonism in an early onset Alzheimer's disease patient with a presenilin 1 mutation (A434T);Jo;JAD,2019

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Early-onset asymmetric parkinsonism with atypical features and rapid progression related to a PSEN1 H163R variant;Parkinsonism & Related Disorders;2024-10

2. Presenilin: A Multi-Functional Molecule in the Pathogenesis of Alzheimer’s Disease and Other Neurodegenerative Diseases;International Journal of Molecular Sciences;2024-02-01

3. A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia;Journal of Movement Disorders;2024-01-31

4. Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias;Neurological Sciences;2023-08-30

5. Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer’s Disease;International Journal of Molecular Sciences;2023-05-08