Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 225 Records) |
Query Trace: PSEN1[original query] |
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Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort. Frontiers in aging neuroscience 2022 12 14 1085406. Rossi Giacomina, Salvi Erika, Mehmeti Elkadia, Ricci Martina, Villa Cristina, Prioni Sara, Moda Fabio, Di Fede Giuseppe, Tiraboschi Pietro, Redaelli Veronica, Coppola Cinzia, Koch Giacomo, Canu Elisa, Filippi Massimo, Agosta Federica, Giaccone Giorgio, Caroppo Pao |
Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study. The Lancet. Neurology 2022 12 22 (1): 55-65. Boerwinkle Anna H, Gordon Brian A, Wisch Julie, Flores Shaney, Henson Rachel L, Butt Omar H, McKay Nicole, Chen Charles D, Benzinger Tammie L S, Fagan Anne M, Handen Benjamin L, Christian Bradley T, Head Elizabeth, Mapstone Mark, Rafii Michael S, O'Bryant Sid, Lai Florence, Rosas H Diana, Lee Joseph H, Silverman Wayne, Brickman Adam M, Chhatwal Jasmeer P, Cruchaga Carlos, Perrin Richard J, Xiong Chengjie, Hassenstab Jason, McDade Eric, Bateman Randall J, Ances Beau M, , |
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project. medRxiv : the preprint server for health sciences 2023 9 . Wan-Ping Lee, Seung Hoan Choi, Margaret G Shea, Po-Liang Cheng, Beth A Dombroski, Achilleas N Pitsillides, Nancy L Heard-Costa, Hui Wang, Katia Bulekova, Amanda B Kuzma, Yuk Yee Leung, John J Farrell, Honghuang Lin, Adam Naj, Elizabeth E Blue, Frederick Nusetor, Dongyu Wang, Eric Boerwinkle, William S Bush, Xiaoling Zhang, Philip L De Jager, Josée Dupuis, Lindsay A Farrer, Myriam Fornage, Eden Martin, Margaret Pericak-Vance, Sudha Seshadri, Ellen M Wijsman, Li-San Wang, Gerard D Schellenberg, Anita L Destefano, Jonathan L Haines, Gina M Pelo |
Sex differences in blood biomarkers and cognitive performance in individuals with autosomal dominant Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 6 . Clara Vila-Castelar, Yinghua Chen, Stephanie Langella, Francisco Lopera, Henrik Zetterberg, Oskar Hansson, Jeffrey L Dage, Shorena Janelidzde, Yi Su, Kewei Chen, Celina Pluim McDowell, Jairo E Martinez, Liliana Ramirez-Gomez, Gloria Garcia, David Aguillon, Ana Baena, Margarita Giraldo-Chica, Hillary D Protas, Valentina Ghisays, Silvia Rios-Romenets, Pierre N Tariot, Kaj Blennow, Eric M Reiman, Yakeel T Quir |
An Updated Mutation Spectrum of the ?-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata. Indian journal of dermatology 2023 6 68 (2): 141-147. Uppala Ratnamala, Nayan K Jain, Devendrasinh D Jhala, Pullabatla V S Prasad, Nazia Saiyed, Sreelatha Nair, Uppala Radhakrish |
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias. Journal of human genetics 2023 6 . Hiromi Fukuda, Takeshi Mizuguchi, Hiroshi Doi, Shinichi Kameyama, Misako Kunii, Hideto Joki, Tatsuya Takahashi, Hiroyasu Komiya, Mei Sasaki, Yosuke Miyaji, Sachiko Ohori, Eriko Koshimizu, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Fumiaki Tanaka, Naomichi Matsumo |
The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China. NPJ Parkinson's disease 2023 5 9 (1): 76. Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wa |
Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man. Nature medicine 2023 5 29 (5): 1243-1252. Francisco Lopera, Claudia Marino, Anita S Chandrahas, Michael O'Hare, Nelson David Villalba-Moreno, David Aguillon, Ana Baena, Justin S Sanchez, Clara Vila-Castelar, Liliana Ramirez Gomez, Natalia Chmielewska, Gabriel M Oliveira, Jessica Lisa Littau, Kristin Hartmann, Kyungeun Park, Susanne Krasemann, Markus Glatzel, Dorothee Schoemaker, Lucia Gonzalez-Buendia, Santiago Delgado-Tirado, Said Arevalo-Alquichire, Kahira L Saez-Torres, Dhanesh Amarnani, Leo A Kim, Randall C Mazzarino, Harper Gordon, Yamile Bocanegra, Andres Villegas, Xiaowu Gai, Moiz Bootwalla, Jianling Ji, Lishuang Shen, Kenneth S Kosik, Yi Su, Yinghua Chen, Aaron Schultz, Reisa A Sperling, Keith Johnson, Eric M Reiman, Diego Sepulveda-Falla, Joseph F Arboleda-Velasquez, Yakeel T Quir |
Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn. International journal of molecular sciences 2023 4 24 (8): . Heewon Bae, Kyu Hwan Shim, Jang Yoo, Young-Soon Yang, Seong Soo A An, Min-Ju Ka |
Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease. Frontiers in neurology 2023 4 14 1119326. Liang Zhihou, Wu Yan, Li Chuanzhou, Liu Zhij |
Gene Expression Profiling as a Novel Diagnostic Tool for Neurodegenerative Disorders. International journal of molecular sciences 2023 3 24 (6): . Martínez-Iglesias Olaia, Naidoo Vinogran, Carril Juan Carlos, Seoane Silvia, Cacabelos Natalia, Cacabelos Ram |
Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 3 . Cochran Jesse Nicholas, Acosta-Uribe Juliana, Esposito Bianca T, Madrigal Lucia, Aguillón David, Giraldo Margarita M, Taylor Jared W, Bradley Joseph, Fulton-Howard Brian, Andrews Shea J, Acosta-Baena Natalia, Alzate Diana, Garcia Gloria P, Piedrahita Francisco, Lopez Hugo E, Anderson Ashlyn G, Rodriguez-Nunez Ivan, Roberts Kevin, Dominantly Inherited Alzheimer Network , Absher Devin, Myers Richard M, Beecham Gary W, Reitz Christiane, Rizzardi Lindsay F, Fernandez Maria Victoria, Goate Alison M, Cruchaga Carlos, Renton Alan E, Lopera Francisco, Kosik Kenneth |
Early Depressive Symptoms Predict Faster Dementia Progression in Autosomal-Dominant Alzheimer's Disease. Journal of Alzheimer's disease : JAD 2023 2 . Acosta-Baena Natalia, Lopera-Gómez Carlos M, Jaramillo-Elorza Mario C, Velilla-Jiménez Lina, Villegas-Lanau Carlos Andrés, Sepúlveda-Falla Diego, Arcos-Burgos Mauricio, Lopera Francis |
Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study. Parkinsonism & related disorders 2023 2 108 105319. Caritativo Erin Camille A, Yu Jeryl Ritzi T, Bautista Juan Miguel P, Nishioka Kenya, Jamora Roland Dominic G, Yalung Patrick M, Ng Arlene R, Hattori Nobuta |
Odor Identification Across Time in Mutation Carriers and Non-Carriers in Autosomal-Dominant Alzheimer's Disease. Journal of Alzheimer's disease : JAD 2023 12 . Ove Almkvist, Maria Larsson, Caroline Gra |
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP). medRxiv : the preprint server for health sciences 2023 11 . Dongyu Wang, Alexandra Scalici, Yanbing Wang, Honghuang Lin, Achilleas Pitsillides, Nancy Heard-Costa, Carlos Cruchaga, Ellen Ziegemeier, Joshua C Bis, Myriam Fornage, Eric Boerwinkle, Philip L De Jager, Ellen Wijsman, Josée Dupuis, Alan E Renton, Sudha Seshadri, Alison Goate, , Anita L DeStefano, Gina M Pelo |
Potential Modifying Effect of the APOE?4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population. International journal of molecular sciences 2023 11 24 (21): . César A Valdez-Gaxiola, Eric Jonathan Maciel-Cruz, Rubiceli Hernández-Peña, Sofía Dumois-Petersen, Frida Rosales-Leycegui, Martha Patricia Gallegos-Arreola, José Miguel Moreno-Ortiz, Luis E Figue |
The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation. Nature neuroscience 2023 11 . Maxine R Nelson, Peng Liu, Ayushi Agrawal, Oscar Yip, Jessica Blumenfeld, Michela Traglia, Min Joo Kim, Nicole Koutsodendris, Antara Rao, Brian Grone, Yanxia Hao, Seo Yeon Yoon, Qin Xu, Samuel De Leon, Tenzing Choenyi, Reuben Thomas, Francisco Lopera, Yakeel T Quiroz, Joseph F Arboleda-Velasquez, Eric M Reiman, Robert W Mahley, Yadong Hua |
H - 06 Associations between Non-verbal Reasoning Abilities and Brain Pathology in a Colombian Cohort with Autosomal Dominant Alzheimer's Disease. Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists 2023 10 . Alex L Badillo Cabrera, Ana Baena, Jairo Martinez, Yamile Bocanegra, Clara Vila Castelar, Francisco Lopera, Yakeel Quir |
Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 10 . Kelly N H Nudelman, Trever Jackson, Malia Rumbaugh, Ani Eloyan, Marco Abreu, Jeffrey L Dage, Casey Snoddy, Kelley M Faber, Tatiana Foroud, Dustin B Hammers, , Alexander Taurone, Maryanne Thangarajah, Paul Aisen, Laurel Beckett, Joel Kramer, Robert Koeppe, Walter A Kukull, Melissa E Murray, Arthur W Toga, Prashanthi Vemuri, Alireza Atri, Gregory S Day, Ranjan Duara, Neill R Graff-Radford, Lawrence S Honig, David T Jones, Joseph C Masdeu, Mario Mendez, Erik Musiek, Chiadi U Onyike, Meghan Riddle, Emily Rogalski, Stephen Salloway, Sharon J Sha, R Scott Turner, Thomas S Wingo, David A Wolk, Maria C Carrillo, Bradford C Dickerson, Gil D Rabinovici, Liana G Apostolova, |
Depressive symptoms and hippocampal volume in autosomal dominant Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 10 . Stephanie Langella, Francisco Lopera, Ana Baena, Joshua T Fox-Fuller, Diana Munera, Jairo E Martinez, Averi Giudicessi, Patrizia Vannini, Bernard J Hanseeuw, Gad A Marshall, Yakeel T Quiroz, Jennifer R Gatch |
Cell type-specific histone acetylation profiling of Alzheimer's disease subjects and integration with genetics. Frontiers in molecular neuroscience 2023 1 15 948456. Ramamurthy Easwaran, Welch Gwyneth, Cheng Jemmie, Yuan Yixin, Gunsalus Laura, Bennett David A, Tsai Li-Huei, Pfenning Andreas |
Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 8 . Ya-Ru Zhang, Bang-Sheng Wu, Shi-Dong Chen, Liu Yang, Yue-Ting Deng, Yu Guo, Xin-Rui Wu, Wei-Shi Liu, Ju-Jiao Kang, Jian-Feng Feng, Wei Cheng, Jin-Tai |
Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy. International journal of molecular sciences 2024 7 25 (13): . Claudia Saraceno, Lorenzo Pagano, Valentina Laganà, Andrea Geviti, Silvia Bagnoli, Assunta Ingannato, Salvatore Mazzeo, Antonio Longobardi, Silvia Fostinelli, Sonia Bellini, Alberto Montesanto, Giuliano Binetti, Raffaele Maletta, Benedetta Nacmias, Roberta Ghido |
APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease. The New England journal of medicine 2024 6 390 (23): 2156-2164. Yakeel T Quiroz, David Aguillon, Daniel C Aguirre-Acevedo, Daniel Vasquez, Yesica Zuluaga, Ana Y Baena, Lucia Madrigal, Liliana Hincapié, Justin S Sanchez, Stephanie Langella, Rafael Posada-Duque, Jessica L Littau, Nelson D Villalba-Moreno, Clara Vila-Castelar, Liliana Ramirez Gomez, Gloria Garcia, Elizabeth Kaplan, Sofia Rassi Vargas, J Alejandro Ossa, Pablo Valderrama-Carmona, Paula Perez-Corredor, Susanne Krasemann, Markus Glatzel, Kenneth S Kosik, Keith Johnson, Reisa A Sperling, Eric M Reiman, Diego Sepulveda-Falla, Francisco Lopera, Joseph F Arboleda-Velasqu |
Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population. Journal of Alzheimer's disease : JAD 2024 5 . Yaoru Li, Ziying Yang, Yanxin Zhang, Fang Liu, Jing Xu, Yaping Meng, Gebeili Xing, Xuqin Ruan, Jun Sun, Nan Zha |
Genetic Susceptibility Variants of Vascular Dementia among Asians: A Systematic Review and Meta-Analysis. Dementia and geriatric cognitive disorders 2024 4 . Vasudevan Ramachandran, Nur Afiqah Mohamad, Mohd Nazil Salleh, Wan Aliaa Wan Sulaiman, Liyana Najwa Inche Mat, Mohd Hazmi Mohamed, Ching Siew Mooi, Abdul Hanif Khan Yusof Khan, Hamidon Basri, Pannerselvam Periasamy, Vajiravelu Suganthi, Narenkumar Jayaram |
Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 10 . Wan-Ping Lee, Seung Hoan Choi, Margaret G Shea, Po-Liang Cheng, Beth A Dombroski, Achilleas N Pitsillides, Nancy L Heard-Costa, Hui Wang, Katia Bulekova, Amanda B Kuzma, Yuk Yee Leung, John J Farrell, Honghuang Lin, Brian W Kunkle, Adam Naj, Elizabeth E Blue, Frederick Nusetor, Dongyu Wang, Eric Boerwinkle, William S Bush, Xiaoling Zhang, Philip L De Jager, Josée Dupuis, Lindsay A Farrer, Myriam Fornage, Eden Martin, Margaret Pericak-Vance, Sudha Seshadri, Ellen M Wijsman, Li-San Wang, , Gerard D Schellenberg, Anita L Destefano, Jonathan L Haines, Gina M Pelo |
Impact of APOE ?4 and ?2 on plasma neurofilament light chain and cognition in autosomal dominant Alzheimer's disease. Alzheimer's research & therapy 2024 10 16 (1): 208. Stephanie Langella, Kyra Bonta, Yinghua Chen, Yi Su, Daniel Vasquez, David Aguillon, Natalia Acosta-Baena, Ana Y Baena, Gloria Garcia-Ospina, Margarita Giraldo-Chica, Victoria Tirado, Claudia Muñoz, Silvia Ríos-Romenets, Claudia Guzman-Martínez, Jeremy J Pruzin, Valentina Ghisays, Joseph F Arboleda-Velasquez, Kenneth S Kosik, Pierre N Tariot, Eric M Reiman, Francisco Lopera, Yakeel T Quir |
- Page last reviewed:Feb 1, 2024
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