Perceptions of Knowledge, Disease Impact and Predictive Genetic Testing in Family Members at Risk to Develop Early-Onset Alzheimer's Disease (EOAD) and Their Levels of Suicidal Ideation: A Mixed Study.
Brain Sciences
Reyes-Domínguez, Yesica Arlae YA; Figuera, Luis E LE; Brambila-Tapia, Aniel Jessica Leticia AJL
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PSEN1: 1292C>A; Ala431Glu
Retinal pathological features and proteome signatures of Alzheimer's disease.
Acta Neuropathologica
Koronyo, Yosef Y; Rentsendorj, Altan A; Mirzaei, Nazanin N; Regis, Giovanna C GC; Sheyn, Julia J; Shi, Haoshen H; Barron, Ernesto E; Cook-Wiens, Galen G; Rodriguez, Anthony R AR; Medeiros, Rodrigo R; Paulo, Joao A JA; Gupta, Veer B VB; Kramerov, Andrei A AA; Ljubimov, Alexander V AV; Van Eyk, Jennifer E JE; Graham, Stuart L SL; Gupta, Vivek K VK; Ringman, John M JM; Hinton, David R DR; Miller, Carol A CA; Black, Keith L KL; Cattaneo, Antonino A; Meli, Giovanni G; Mirzaei, Mehdi M; Fuchs, Dieu-Trang DT; Koronyo-Hamaoui, Maya M
Aβ and tau prions feature in the neuropathogenesis of Down syndrome.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Condello, Carlo C; Maxwell, Alison M AM; Castillo, Erika E; Aoyagi, Atsushi A; Graff, Caroline C; Ingelsson, Martin M; Lannfelt, Lars L; Bird, Thomas D TD; Keene, C Dirk CD; Seeley, William W WW; Perl, Daniel P DP; Head, Elizabeth E; Prusiner, Stanley B SB
Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O
Locus coeruleus integrity is related to tau burden and memory loss in autosomal-dominant Alzheimer's disease.
Neurobiology Of Aging
Dahl, Martin J MJ; Mather, Mara M; Werkle-Bergner, Markus M; Kennedy, Briana L BL; Guzman, Samuel S; Hurth, Kyle K; Miller, Carol A CA; Qiao, Yuchuan Y; Shi, Yonggang Y; Chui, Helena C HC; Ringman, John M JM
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.
Frontiers In Molecular Neuroscience
Vázquez-Costa, Juan Francisco JF; Payá-Montes, María M; Martínez-Molina, Marina M; Jaijo, Teresa T; Szymanski, Jazek J; Mazón, Miguel M; Sopena-Novales, Pablo P; , ; Pérez-Tur, Jordi J; Sevilla, Teresa T
Aβ1-16 controls synaptic vesicle pools at excitatory synapses via cholinergic modulation of synapsin phosphorylation.
Cellular And Molecular Life Sciences : Cmls
Anni, Daniela D; Weiss, Eva-Maria EM; Guhathakurta, Debarpan D; Akdas, Yagiz Enes YE; Klueva, Julia J; Zeitler, Stefanie S; Andres-Alonso, Maria M; Huth, Tobias T; Fejtova, Anna A
Abnormal retinal capillary blood flow in autosomal dominant Alzheimer's disease.
Alzheimer'S & Dementia (Amsterdam, Netherlands)
Singer, Maxwell B MB; Ringman, John M JM; Chu, Zhongdi Z; Zhou, Xiao X; Jiang, Xuejuan X; Shahidzadeh, Anoush A; Wang, Ruikang K RK; Kashani, Amir H AH
Longitudinal Accumulation of Cerebral Microhemorrhages in Dominantly Inherited Alzheimer Disease.
Neurology
Joseph-Mathurin, Nelly N; Wang, Guoqiao G; Kantarci, Kejal K; Jack, Clifford R CR; McDade, Eric E; Hassenstab, Jason J; Blazey, Tyler M TM; Gordon, Brian A BA; Su, Yi Y; Chen, Gengsheng G; Massoumzadeh, Parinaz P; Hornbeck, Russ C RC; Allegri, Ricardo F RF; Ances, Beau M BM; Berman, Sarah B SB; Brickman, Adam M AM; Brooks, William S WS; Cash, David M DM; Chhatwal, Jasmeer P JP; Chui, Helena C HC; Correia, Stephen S; Cruchaga, Carlos C; Farlow, Martin R MR; Fox, Nick C NC; Fulham, Michael M; Ghetti, Bernardino B; Graff-Radford, Neill R NR; Johnson, Keith A KA; Karch, Celeste M CM; Laske, Christoph C; Lee, Athene K W AKW; Levin, Johannes J; Masters, Colin L CL; Noble, James M JM; O'Connor, Antoinette A; Perrin, Richard J RJ; Preboske, Gregory M GM; Ringman, John M JM; Rowe, Christopher C CC; Salloway, Stephen S; Saykin, Andrew J AJ; Schofield, Peter R PR; Shimada, Hiroyuki H; Shoji, Mikio M; Suzuki, Kazushi K; Villemagne, Victor L VL; Xiong, Chengjie C; Yakushev, Igor I; Morris, John C JC; Bateman, Randall J RJ; Benzinger, Tammie L S TLS; ,
Primary Progressive Aphasia has a Unique Signature Distinct from Dementia of the Alzheimer's Type and Behavioral Variant Frontotemporal Dementia Regardless of Pathology.
Journal Of Neuropathology And Experimental Neurology
Gefen, Tamar T; Mao, Qinwen Q; Kohler, Missia M; Moeller, Stacey S; Kawles, Allegra A; Coventry, Christina C; Spencer, Callen C; Lilek, Jaclyn J; Ajroud, Kaouther K; Feldman, Alex A; Flanagan, Margaret M; Rogalski, Emily E; Weintraub, Sandra S; Rademaker, Alfred A; Geula, Changiz C; Mesulam, M-Marsel MM; Bigio, Eileen E
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
A mixed-methods study of cultural beliefs about dementia and genetic testing among Mexicans and Mexican-Americans at-risk for autosomal dominant Alzheimer's disease.
Journal Of Genetic Counseling
Withers, Mellissa M; Sayegh, Philip P; Rodriguez-Agudelo, Yaneth Y; Ernstrom, Karin K; Raman, Rema R; Montoya, Lucy L; Zuno-Reyes, Angelica A; Mosieri, Chizoba C; Matute, Esmeralda E; Ringman, John M JM
Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.
Translational Psychiatry
Jiang, Shan S; Wen, Natalie N; Li, Zeran Z; Dube, Umber U; Del Aguila, Jorge J; Budde, John J; Martinez, Rita R; Hsu, Simon S; Fernandez, Maria V MV; Cairns, Nigel J NJ; , ; , ; Harari, Oscar O; Cruchaga, Carlos C; Karch, Celeste M CM
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Alzheimer'S Research & Therapy
Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM
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
Amyloid polymorphisms constitute distinct clouds of conformational variants in different etiological subtypes of Alzheimer's disease.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Rasmussen, Jay J; Mahler, Jasmin J; Beschorner, Natalie N; Kaeser, Stephan A SA; Häsler, Lisa M LM; Baumann, Frank F; Nyström, Sofie S; Portelius, Erik E; Blennow, Kaj K; Lashley, Tammaryn T; Fox, Nick C NC; Sepulveda-Falla, Diego D; Glatzel, Markus M; Oblak, Adrian L AL; Ghetti, Bernardino B; Nilsson, K Peter R KPR; Hammarström, Per P; Staufenbiel, Matthias M; Walker, Lary C LC; Jucker, Mathias M
The effects of different familial Alzheimer's disease mutations on APP processing in vivo.
Alzheimer'S Research & Therapy
Thordardottir, Steinunn S; Kinhult Ståhlbom, Anne A; Almkvist, Ove O; Thonberg, Håkan H; Eriksdotter, Maria M; Zetterberg, Henrik H; Blennow, Kaj K; Graff, Caroline C
Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.
Neurobiology Of Aging
Soosman, Steffan K SK; Joseph-Mathurin, Nelly N; Braskie, Meredith N MN; Bordelon, Yvette M YM; Wharton, David D; Casado, Maria M; Coppola, Giovanni G; McCallum, Holly H; Nuwer, Marc M; Coutin-Churchman, Pedro P; Apostolova, Liana G LG; Benzinger, Tammie T; Ringman, John M JM
Characterization of FRM-36143 as a new γ-secretase modulator for the potential treatment of familial Alzheimer's disease.
Alzheimer'S Research & Therapy
Blain, Jean-François JF; Bursavich, Matthew G MG; Freeman, Emily A EA; Hrdlicka, Lori A LA; Hodgdon, Hilliary E HE; Chen, Ting T; Costa, Don E DE; Harrison, Bryce A BA; Kapadnis, Sudarshan S; Murphy, Deirdre A DA; Nolan, Scott S; Tu, Zhiming Z; Tang, Cuyue C; Burnett, Duane A DA; Patzke, Holger H; Koenig, Gerhard G
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
β-site amyloid precursor protein-cleaving enzyme 1(BACE1) inhibitor treatment induces Aβ5-X peptides through alternative amyloid precursor protein cleavage.
Alzheimer'S Research & Therapy
Portelius, Erik E; Dean, Robert A RA; Andreasson, Ulf U; Mattsson, Niklas N; Westerlund, Anni A; Olsson, Maria M; Demattos, Ronald Bradley RB; Racke, Margaret M MM; Zetterberg, Henrik H; May, Patrick C PC; Blennow, Kaj K
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; ,
Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.
Neuroscience Letters
Cornejo-Olivas, Mario R MR; Yu, Chang-En CE; Mazzetti, Pilar P; Mata, Ignacio F IF; Meza, Maria M; Lindo-Samanamud, Saul S; Leverenz, James B JB; Bird, Thomas D TD
Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.
American Journal Of Neurodegenerative Disease
Roher, Alex E AE; Maarouf, Chera L CL; Malek-Ahmadi, Michael M; Wilson, Jeffrey J; Kokjohn, Tyler A TA; Daugs, Ian D ID; Whiteside, Charisse M CM; Kalback, Walter M WM; Macias, Mimi P MP; Jacobson, Sandra A SA; Sabbagh, Marwan N MN; Ghetti, Bernardino B; Beach, Thomas G TG
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
Acta Neuropathologica
Pera, Marta M; Alcolea, Daniel D; Sánchez-Valle, Raquel R; Guardia-Laguarta, Cristina C; Colom-Cadena, Martí M; Badiola, Nahuai N; Suárez-Calvet, Marc M; Lladó, Albert A; Barrera-Ocampo, Alvaro A AA; Sepulveda-Falla, Diego D; Blesa, Rafael R; Molinuevo, José L JL; Clarimón, Jordi J; Ferrer, Isidre I; Gelpi, Ellen E; Lleó, Alberto A
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
Plasma methionine sulfoxide in persons with familial Alzheimer's disease mutations.
Dementia And Geriatric Cognitive Disorders
Ringman, John M JM; Fithian, Andrew T AT; Gylys, Karen K; Cummings, Jeffrey L JL; Coppola, Giovanni G; Elashoff, David D; Pratico, Domenico D; Moskovitz, Jackob J; Bitan, Gal G
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