Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease-Reference-Cited by-同舟云学术

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

Published:2018-08-13 Issue:12 Volume:14 Page:1632-1639
ISSN:1552-5260
Container-title:Alzheimer's & Dementia
language:en
Short-container-title:Alzheimer's & Dementia

Author:

Nicolas Gaël¹²,Acuña‐Hidalgo Rocío¹³,Keogh Michael J.⁴⁵,Quenez Olivier²,Steehouwer Marloes¹,Lelieveld Stefan¹,Rousseau Stéphane²,Richard Anne‐Claire²,Oud Manon S.¹,Marguet Florent⁶,Laquerrière Annie⁶,Morris Chris M.⁷,Attems Johannes⁷,Smith Colin⁸,Ansorge Olaf⁹,Al Sarraj Safa¹⁰,Frebourg Thierry²,Campion Dominique²¹¹,Hannequin Didier¹²,Wallon David¹³,Gilissen Christian¹,Chinnery Patrick F.⁴⁵,Veltman Joris A.¹¹⁴,Hoischen Alexander¹¹⁵

Affiliation:

1. Department of Human GeneticsRadboud University Medical CenterNijmegenThe Netherlands

2. Normandie UnivUNIROUENInserm U1245 and Rouen University HospitalDepartment of Genetics and CNR‐MAJ, F 76000Normandy Center for Genomic and Personalized MedicineRouenFrance

3. Max Planck Institute for Molecular GeneticsRG Development & DiseaseBerlinGermany

4. Department of Clinical NeurosciencesUniversity of CambridgeCambridge Biomedical CampusCambridgeCB2 0QQUK

5. MRC Mitochondrial Biology UnitUniversity of CambridgeCambridgeCB2 0XYUK

6. Normandie UnivUNIROUENInserm U1245 and Rouen University HospitalDepartment of Neuropathology, F 76000Normandy Center for Genomic and Personalized MedicineRouenFrance

7. Institute of NeuroscienceNewcastle UniversityNewcastle Upon TyneNE4 5PLUK

8. National CJD Research & Surveillance UnitCentre for Clinical Brain SciencesUniversity of EdinburghWestern General HospitalEdinburghEH4 2XUUK

9. Department of NeuropathologyJohn Radcliffe HospitalOxfordOX3 9DUUK

10. Department of Basic and Clinical NeuroscienceInstitute of PsychiatryPsychology and NeuroscienceKing's College LondonLondonSE5 8AFUK

11. Department of researchRouvray Psychiatric HospitalSotteville‐lès‐RouenFrance

12. Normandie UnivUNIROUENInserm U1245 and Rouen University HospitalDepartment of GeneticsDepartment of Neurology and CNR‐MAJ, F 76000Normandy Center for Genomic and Personalized MedicineRouenFrance

13. Normandie UnivUNIROUENInserm U1245 and Rouen University HospitalDepartment of Neurology and CNR‐MAJ, F 76000Normandy Center for Genomic and Personalized MedicineRouenFrance

14. Institute of Genetic MedicineInternational Centre for LifeNewcastle UniversityNewcastle upon TyneUnited Kingdom

15. Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI)Radboud University Medical CenterNijmegenThe Netherlands

Funder

Medical Research Council

Radboud University Medical Center

Wellcome Trust Clinical Research

National Institute for Health Research

Alzheimer's Society

Alzheimer's Research UK

Newcastle upon Tyne Hospitals NHS Foundation Trust

Publisher

Wiley

Subject

Psychiatry and Mental health,Cellular and Molecular Neuroscience,Geriatrics and Gerontology,Neurology (clinical),Developmental Neuroscience,Health Policy,Epidemiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.jalz.2018.06.3056

Reference24 articles.

1. From Common to Rare Variants: The Genetic Component of Alzheimer Disease

2. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

3. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

4. De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

5. Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

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