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
Practice effects in cognitive assessments three years later in non-carriers but not in symptom-free mutation carriers of autosomal-dominant Alzheimer's disease: Exemplifying procedural learning and memory?
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
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
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
The APOE ε4 Allele Affects Cognitive Functions Differently in Carriers of APP Mutations Compared to Carriers of PSEN1 Mutations in Autosomal-Dominant Alzheimer's Disease.
The APOE ε4 Allele Affects Cognitive Functions Differently in Carriers of APP Mutations Compared to Carriers of PSEN1 Mutations in Autosomal-Dominant Alzheimer's Disease.
Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease.
Neural Regeneration Research
Hernandez-Sapiens, Mercedes A MA; Reza-Zaldívar, Edwin E EE; Márquez-Aguirre, Ana L AL; Gómez-Pinedo, Ulises U; Matias-Guiu, Jorge J; Cevallos, Ricardo R RR; Mateos-Díaz, Juan C JC; Sánchez-González, Víctor J VJ; Canales-Aguirre, Alejandro A AA
Transitioning from cerebrospinal fluid to blood tests to facilitate diagnosis and disease monitoring in Alzheimer's disease.
Journal Of Internal Medicine
Alawode, D O T DOT; Heslegrave, A J AJ; Ashton, N J NJ; Karikari, T K TK; Simrén, J J; Montoliu-Gaya, L L; Pannee, J J; O Connor, A A; Weston, P S J PSJ; Lantero-Rodriguez, J J; Keshavan, A A; Snellman, A A; Gobom, J J; Paterson, R W RW; Schott, J M JM; Blennow, K K; Fox, N C NC; Zetterberg, H H
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Cortical microstructural correlates of astrocytosis in autosomal-dominant Alzheimer disease.
Neurology
Vilaplana, Eduard E; Rodriguez-Vieitez, Elena E; Ferreira, Daniel D; Montal, Victor V; Almkvist, Ove O; Wall, Anders A; Lleó, Alberto A; Westman, Eric E; Graff, Caroline C; Fortea, Juan J; Nordberg, Agneta A
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
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
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Neurobiology Of Aging
Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW
Cerebrospinal Fluid Aβ43 Is Reduced in Early-Onset Compared to Late-Onset Alzheimer's Disease, But Has Similar Diagnostic Accuracy to Aβ42.
Frontiers In Aging Neuroscience
Lauridsen, Camilla C; Sando, Sigrid B SB; Møller, Ina I; Berge, Guro G; Pomary, Precious K PK; Grøntvedt, Gøril R GR; Salvesen, Øyvind Ø; Bråthen, Geir G; White, Linda R LR
Cerebrospinal Fluid Levels of Amyloid Beta 1-43 Mirror 1-42 in Relation to Imaging Biomarkers of Alzheimer's Disease.
Frontiers In Aging Neuroscience
Almdahl, Ina S IS; Lauridsen, Camilla C; Selnes, Per P; Kalheim, Lisa F LF; Coello, Christopher C; Gajdzik, Beata B; Møller, Ina I; Wettergreen, Marianne M; Grambaite, Ramune R; Bjørnerud, Atle A; Bråthen, Geir G; Sando, Sigrid B SB; White, Linda R LR; Fladby, Tormod T
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
Diverging longitudinal changes in astrocytosis and amyloid PET in autosomal dominant Alzheimer's disease.
Brain : A Journal Of Neurology
Rodriguez-Vieitez, Elena E; Saint-Aubert, Laure L; Carter, Stephen F SF; Almkvist, Ove O; Farid, Karim K; Schöll, Michael M; Chiotis, Konstantinos K; Thordardottir, Steinunn S; Graff, Caroline C; Wall, Anders A; Långström, Bengt B; Nordberg, Agneta A