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O5‐04‐02: RARE CODING MUTATIONS ASSOCIATED WITH ALZHEIMER DISEASE AND OTHER DEMENTIAS
Author(s) -
Patel Devanshi,
Chung Jaeyoon,
Mez Jesse,
Zhang Xiaoling,
Haines Jonathan L.,
Pericak-Vance Margaret A.,
Schellenberg Gerard,
Lunetta Kathryn L.,
Farrer Lindsay A.
Publication year - 2018
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2018.06.3014
Subject(s) - cadasil , dementia , cerebral amyloid angiopathy , leukoencephalopathy , exome sequencing , medicine , alzheimer's disease , cognitive decline , jag1 , genetics , psen1 , mutation , disease , amyloid precursor protein , bioinformatics , pathology , biology , notch signaling pathway , gene
Amit Kawalia, Alfredo Ramirez, Wiesje M. Van der Flier, Philip Scheltens, Marcel JT. Reinders, Isabel Hernandez, Alberto Lle o, Juan Fortea, Najada Stringa, Agust ın Ruiz Ruiz, Ignacio Ill an-Gala, Estrella Morenas-Rodr ıguez, Jordi Clarimon, Carmen Lage, Erik van den Akker, Eloy Rodr ıguez Rodr ıguez, Pascual S anchez-Juan, Yolande A. L. Pijnenburg, Natasja van Schoor, Javier Simon-Sanchez, Afina W. Lemstra, Peter Heutink, Sonja Scholz, Martijn Huisman, Eline Slagboom, Henne Holstege and Alzheimer Disease European DNA Biobank, International Frontotemporal Dementia Genomics Consortium, International Parkinson Disease Genomics Consortium, and the Risk and Modifying Factors in FrontoTemporal Dementia Investigators, VU University Medical Center, Amsterdam, Netherlands; VU Medical Center, Amsterdam, Netherlands; Johns Hopkins University School of Medicine, Baltimore, MD, USA; National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA; Amsterdam Neuroscience, Amsterdam, Netherlands; Fundacion Insituto Leloir, Instituto de Investigeciones Bioquimicas de Buenos Aires, National Scientific and Technical Research Council (CONICET), Buenos Aires, Argentina; Department for Neurodegenerative Diseases and Geriatric Psychiatry, University of Bonn, Bonn, Germany; Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany; VU University Medical Center, Alzheimer Center, Amsterdam Neuroscience, Amsterdam, Netherlands; Delft University of Technology, Delft, Netherlands; Barcelona Alzheimer Treatment and Research Center (Fundacio ACE), Barcelona, Spain; Sant PauMemoryUnit, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Aut onoma de Barcelona, Barcelona, Spain; VU University Medical Centre, Amsterdam, Netherlands; Neuroscience Center, Barcelona Alzheimer Treatment and Research Center (Fundacio ACE), Institut Catal a de Neuroci encies Aplicades, Barcelona, Spain; Sant Pau Institute of Biomedical Research, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain; Centre of Biomedical Investigation Network for Neurodegenerative Diseases, Madrid, Spain; University Hospital Marques de Valdecilla, Santander, Spain; Leiden University Medical Center, Leiden, Netherlands; Alzheimer Center and Department of Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, Netherlands; German Center for Neurodegenerative Diseases, T€ubingen, Germany. Contact e-mail: s.j. vanderlee@vumc.nl