Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Molecular Psychiatry
Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.
Neurobiology Of Aging
Petok, Jessica R JR; Myers, Catherine E CE; Pa, Judy J; Hobel, Zachary Z; Wharton, David M DM; Medina, Luis D LD; Casado, Maria M; Coppola, Giovanni G; Gluck, Mark A MA; Ringman, John M JM
Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.
Journal Of Neuropathology And Experimental Neurology
Ringman, John M JM; Monsell, Sarah S; Ng, Denise W DW; Zhou, Yan Y; Nguyen, Andy A; Coppola, Giovanni G; Van Berlo, Victoria V; Mendez, Mario F MF; Tung, Spencer S; Weintraub, Sandra S; Mesulam, Marek-Marsel MM; Bigio, Eileen H EH; Gitelman, Darren R DR; Fisher-Hubbard, Amanda O AO; Albin, Roger L RL; Vinters, Harry V HV
Memory binding and white matter integrity in familial Alzheimer's disease.
Brain : A Journal Of Neurology
Parra, Mario A MA; Saarimäki, Heini H; Bastin, Mark E ME; Londoño, Ana C AC; Pettit, Lewis L; Lopera, Francisco F; Della Sala, Sergio S; Abrahams, Sharon S
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,
Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.
Journal Of Alzheimer'S Disease : Jad
Scahill, Rachael I RI; Ridgway, Gerard R GR; Bartlett, Jonathan W JW; Barnes, Josephine J; Ryan, Natalie S NS; Mead, Simon S; Beck, Jonathan J; Clarkson, Matthew J MJ; Crutch, Sebastian J SJ; Schott, Jonathan M JM; Ourselin, Sebastien S; Warren, Jason D JD; Hardy, John J; Rossor, Martin N MN; Fox, Nick C NC
Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations.
Journal Of Neurology, Neurosurgery, And Psychiatry
Lee, Grace J GJ; Lu, Po H PH; Medina, Luis D LD; Rodriguez-Agudelo, Yaneth Y; Melchor, Stephanie S; Coppola, Giovanni G; Braskie, Meredith N MN; Hua, Xue X; Apostolova, Liana G LG; Leow, Alex D AD; Thompson, Paul M PM; Ringman, John M JM
Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype.
Archives Of Neurology
Ringman, John M JM; Elashoff, David D; Geschwind, Daniel H DH; Welsh, Brian T BT; Gylys, Karen H KH; Lee, Cathy C; Cummings, Jeffrey L JL; Cole, Greg M GM
Cerebrospinal fluid biomarkers and proximity to diagnosis in preclinical familial Alzheimer's disease.
Dementia And Geriatric Cognitive Disorders
Ringman, John M JM; Coppola, Giovanni G; Elashoff, David D; Rodriguez-Agudelo, Yaneth Y; Medina, Luis D LD; Gylys, Karen K; Cummings, Jeffrey L JL; Cole, Greg M GM
Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations.
Archives Of Neurology
Ringman, John M JM; Schulman, Howard H; Becker, Chris C; Jones, Ted T; Bai, Yuchen Y; Immermann, Fred F; Cole, Gregory G; Sokolow, Sophie S; Gylys, Karen K; Geschwind, Daniel H DH; Cummings, Jeffrey L JL; Wan, Hong I HI
Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's disease.
Dementia And Geriatric Cognitive Disorders
Apostolova, Liana G LG; Hwang, Kristy S KS; Medina, Luis D LD; Green, Amity E AE; Braskie, Meredith N MN; Dutton, Rebecca A RA; Lai, Jeffrey J; Geschwind, Daniel H DH; Cummings, Jeffrey L JL; Thompson, Paul M PM; Ringman, John M JM
Increased fMRI signal with age in familial Alzheimer's disease mutation carriers.
Neurobiology Of Aging
Braskie, Meredith N MN; Medina, Luis D LD; Rodriguez-Agudelo, Yaneth Y; Geschwind, Daniel H DH; Macias-Islas, Miguel Angel MA; Cummings, Jeffrey L JL; Bookheimer, Susan Y SY; Ringman, John M JM
Neuropsychological function in nondemented carriers of presenilin-1 mutations.
Neurology
Ringman, J M JM; Diaz-Olavarrieta, C C; Rodriguez, Y Y; Chavez, M M; Fairbanks, L L; Paz, F F; Varpetian, A A; Maldonado, H C HC; Macias-Islas, M A MA; Murrell, J J; Ghetti, B B; Kawas, C C