Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 145 Records) |
Query Trace: Progressive Supranuclear Palsy[original query] |
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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
The Lancet. Neurology 2020 10 19 (10): 840-848. Jones Emma, Hummerich Holger, Viré Emmanuelle, Uphill James, Dimitriadis Athanasios, Speedy Helen, Campbell Tracy, Norsworthy Penny, Quinn Liam, Whitfield Jerome, Linehan Jacqueline, Jaunmuktane Zane, Brandner Sebastian, Jat Parmjit, Nihat Akin, How Mok Tze, Ahmed Parvin, Collins Steven, Stehmann Christiane, Sarros Shannon, Kovacs Gabor G, Geschwind Michael D, Golubjatnikov Aili, Frontzek Karl, Budka Herbert, Aguzzi Adriano, Karamuji?-?omi? Hata, van der Lee Sven J, Ibrahim-Verbaas Carla A, van Duijn Cornelia M, Sikorska Beata, Golanska Ewa, Liberski Pawel P, Calero Miguel, Calero Olga, Sanchez-Juan Pascual, Salas Antonio, Martinón-Torres Federico, Bouaziz-Amar Elodie, Haïk Stéphane, Laplanche Jean-Louis, Brandel Jean-Phillipe, Amouyel Phillipe, Lambert Jean-Charles, Parchi Piero, Bartoletti-Stella Anna, Capellari Sabina, Poleggi Anna, Ladogana Anna, Pocchiari Maurizio, Aneli Serena, Matullo Giuseppe, Knight Richard, Zafar Saima, Zerr Inga, Booth Stephanie, Coulthart Michael B, Jansen Gerard H, Glisic Katie, Blevins Janis, Gambetti Pierluigi, Safar Jiri, Appleby Brian, Collinge John, Mead Sim |
Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures. Acta neuropathologica communications 2020 Sep 8 (1): 162. Valentino Rebecca R, Tamvaka Nikoleta, Heckman Michael G, Johnson Patrick W, Soto-Beasley Alexandra I, Walton Ronald L, Koga Shunsuke, Uitti Ryan J, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen |
Prevalence of heterozygous mutations in Niemann-Pick type C genes in a cohort of progressive supranuclear palsy. Parkinsonism & related disorders 2020 8 79 9-10. Picillo Marina, Amboni Marianna, Bruni Amalia, Maletta Raffaele, Barone Pao |
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. The Journal of clinical investigation 2020 Aug . Prudencio Mercedes, Humphrey Jack, Pickles Sarah, Brown Anna-Leigh, Hill Sarah E, Kachergus Jennifer M, Shi J, Heckman Michael G, Spiegel Matthew R, Cook Casey, Song Yuping, Yue Mei, Daughrity Lillian M, Carlomagno Yari, Jansen-West Karen, de Castro Cristhoper Fernandez, DeTure Michael, Koga Shunsuke, Wang Ying-Chih, Sivakumar Prasanth, Bodo Cristian, Candalija Ana, Talbot Kevin, Selvaraj Bhuvaneish T, Burr Karen, Chandran Siddharthan, Newcombe Jia, Lashley Tammaryn, Hubbard Isabel, Catalano Demetra, Kim Duyang, Propp Nadia, Fennessey Samantha, , Fagegaltier Delphine, Phatnani Hemali, Secrier Maria, Fisher Elizabeth Mc, Oskarsson Björn, van Blitterswijk Marka, Rademakers Rosa, Graff-Radford Neil R, Boeve Bradley F, Knopman David S, Petersen Ronald C, Josephs Keith A, Thompson E Aubrey, Raj Towfique, Ward Michael, Dickson Dennis W, Gendron Tania F, Fratta Pietro, Petrucelli Leona |
LRP10 variants in progressive supranuclear palsy. Neurobiology of aging 2020 6 94 311.e5-311.e10. Vergouw Leonie J M, Melhem Shamiram, Donker Kaat Laura, Chiu Wang Z, Kuipers Demy J S, Breedveld Guido, Boon Agnita J W, Wang Li-San, Naj Adam C, Mlynarksi Elizabeth, Cantwell Laura, Quadri Marialuisa, Ross Owen A, Dickson Dennis W, Schellenberg Gerard D, van Swieten John C, Bonifati Vincenzo, de Jong Frank J |
Shared Metabolic Profile of Caffeine in Parkinsonian Disorders. Movement disorders : official journal of the Movement Disorder Society 2020 5 35 (8): 1438-1447. Takeshige-Amano Haruka, Saiki Shinji, Fujimaki Motoki, Ueno Shin-Ichi, Li Yuanzhe, Hatano Taku, Ishikawa Kei-Ichi, Oji Yutaka, Mori Akio, Okuzumi Ayami, Tsunemi Taiji, Daida Kensuke, Ishiguro Yuta, Imamichi Yoko, Nanmo Hisayoshi, Nojiri Shuko, Funayama Manabu, Hattori Nobuta |
Screening of LRP10 mutations in Parkinson's disease patients from Italy. Parkinsonism & related disorders 2021 7 89 17-21. Manini Arianna, Straniero Letizia, Monfrini Edoardo, Percetti Marco, Vizziello Maria, Franco Giulia, Rimoldi Valeria, Zecchinelli Anna, Pezzoli Gianni, Corti Stefania, Comi Giacomo Pietro, Duga Stefano, Di Fonzo Aless |
Traumatic Brain Injury Exposure Lowers Age of Cognitive Decline in AD and Non-AD Conditions. Frontiers in neurology 2021 5 12 573401. Iacono Diego, Raiciulescu Sorana, Olsen Cara, Perl Daniel |
Gene-Environment Interactions in Progressive Supranuclear Palsy. Frontiers in neurology 2021 12 664796. Litvan Irene, Proudfoot James A, Martin Eden R, Standaert David, Riley David, Hall Deborah, Marras Connie, Bayram Ece, Dubinsky Richard M, Bordelon Yvette, Reich Stephen, Shprecher David, Kluger Benzi, Cunningham Christopher, Schellenberg Gerard D, Jankovic Jose |
Genetic pleiotropy and the shared pathological features of corticobasal degeneration and progressive supranuclear palsy: a case report and a review of the literature. Neurocase 2021 3 27 (2): 120-128. Rini James, Asken Breton, Geier Ethan, Rankin Katherine, Kramer Joel, Boxer Adam, Miller Bruce, Yokoyama Jennifer, Spina Salvato |
Latent trait modeling of tau neuropathology in progressive supranuclear palsy.
Acta neuropathologica 2021 2 141 (5): 667-680. Kouri Naomi, Murray Melissa E, Reddy Joseph S, Serie Daniel J, Soto-Beasley Alexandra, Allen Mariet, Carrasquillo Minerva M, Wang Xue, Castanedes Monica Casey, Baker Matthew C, Rademakers Rosa, Uitti Ryan J, Graff-Radford Neill R, Wszolek Zbigniew K, Schellenberg Gerard D, Crook Julia E, Ertekin-Taner Nilüfer, Ross Owen A, Dickson Dennis |
Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis. Frontiers in genetics 2021 12 12 740052. Gu Xiaojing, Chen Yongping, Wei Qianqian, Hou Yanbing, Cao Bei, Zhang Lingyu, Ou Ruwei, Lin Junyu, Liu Kuncheng, Zhao Bi, Shang Huifa |
TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy. Science advances 2021 11 7 (45): eabg3897. Alquezar Carolina, Schoch Kathleen M, Geier Ethan G, Ramos Eliana Marisa, Scrivo Aurora, Li Kathy H, Argouarch Andrea R, Mlynarski Elisabeth E, Dombroski Beth, DeTure Michael, Dickson Dennis W, Yokoyama Jennifer S, Cuervo Ana M, Burlingame Alma L, Schellenberg Gerard D, Miller Timothy M, Miller Bruce L, Kao Aimee |
Functional regulatory variants implicate distinct transcriptional networks in dementia. Science (New York, N.Y.) 2022 08 377 (6608): eabi8654. Cooper Yonatan A, Teyssier Noam, Dräger Nina M, Guo Qiuyu, Davis Jessica E, Sattler Sydney M, Yang Zhongan, Patel Abdulsamie, Wu Sarah, Kosuri Sriram, Coppola Giovanni, Kampmann Martin, Geschwind Daniel |
Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration. Neurology 2022 7 99 (11): e1154-e1167. Tipton Philip Wade, Deutschlaender Angela B, Savica Rodolfo, Heckman Michael G, Brushaber Danielle E, Dickerson Bradford C, Gavrilova Ralitza H, Geschwind Daniel H, Ghoshal Nupur, Graff-Radford Jonathan, Graff-Radford Neill R, Grossman Murray, Hsiung Ging-Yuek R, Huey Edward D, Irwin David John, Jones David T, Knopman David S, McGinnis Scott M, Rademakers Rosa, Ramos Eliana Marisa, Forsberg Leah K, Heuer Hilary W, Onyike Chiadi, Tartaglia Carmela, Domoto-Reilly Kimiko, Roberson Erik D, Mendez Mario F, Litvan Irene, Appleby Brian S, Grant Ian, Kaufer Daniel, Boxer Adam L, Rosen Howard J, Boeve Brad F, Wszolek Zbigniew K, |
Genetics of progressive supranuclear palsy in a Chinese population. Neurobiology of disease 2022 Jul 172 105819. Xiao Xuewen, Yang Qijie, Wen Yafei, Jiao Bin, Liao Xinxin, Zhou Yafang, Weng Ling, Liu Hui, Xu Tianyan, Zhu Yuan, Guo Lina, Zhou Lu, Wang Xin, Liu Xixi, Bi Xiangyun, Liu Yingzi, Zhang Sizhe, Zhang Weiwei, Li Jinchen, Tang Beisha, Shen |
Genetics of validated Parkinson's disease subtypes in the Oxford Discovery and Tracking Parkinson's cohorts. Journal of neurology, neurosurgery, and psychiatry 2022 Jun . Lawton Michael, Tan Manuela Mx, Ben-Shlomo Yoav, Baig Fahd, Barber Thomas, Klein Johannes C, Evetts Samuel G, Millin Stephanie, Malek Naveed, Grosset Katherine, Barker Roger A, Williams Nigel, Burn David J, Foltynie Thomas, Morris Huw R, Wood Nicholas, Grosset Donald G, Hu Michele Tao-Mi |
Sensitivity of the Social Behavior Observer Checklist to Early Symptoms of Patients With Frontotemporal Dementia. Neurology 2022 5 99 (5): e488-99. Toller Gianina, Cobigo Yann, Ljubenkov Peter A, Appleby Brian S, Dickerson Bradford C, Domoto-Reilly Kimiko, Fong Jamie C, Forsberg Leah K, Gavrilova Ralitza H, Ghoshal Nupur, Heuer Hilary W, Knopman David S, Kornak John, Lapid Maria I, Litvan Irene, Lucente Diane E, Mckenzie Ian R, McGinnis Scott M, Miller Bruce L, Pedraza Otto, Rojas Julio C, Staffaroni Adam M, Wong Bonnie, Wszolek Zbigniew K, Boeve Brad F, Boxer Adam L, Rosen Howard J, Rankin Katherine P, |
Examining the presence and nature of delusions in Alzheimer's disease and frontotemporal dementia syndromes. International journal of geriatric psychiatry 2022 2 37 (3): . Kumfor Fiona, Liang Cheng Tao, Hazelton Jessica L, Leyton Cristian E, Kaizik Cassandra, Devenney Emma, Connaughton Emily, Langdon Robyn, Mioshi Eneida, Kwok John B, Dobson-Stone Carol, Halliday Glenda M, Piguet Olivier, Hodges John R, Landin-Romero Ram |
Role of Apolipoprotein E in the Clinical Profile of Atypical Parkinsonian Syndromes. Alzheimer disease and associated disorders 2022 1 36 (1): 36-43. Nasri Amina, Sghaier Ikram, Gharbi Alya, Mrabet Saloua, Ben Djebara Mouna, Gargouri Amina, Kacem Imen, Gouider Ria |
Genetically predicted telomere length and its relationship with neurodegenerative diseases and life expectancy. Computational and structural biotechnology journal 2022 20 4251-4256. Rodríguez-Fernández Blanca, Gispert Juan Domingo, Guigo Roderic, Navarro Arcadi, Vilor-Tejedor Natalia, Crous-Bou Mar |
rs56405341 Variant Associates with Expression of C4orf33 and C4orf33 Was Downregulated in Alzheimer's Disease and Progressive Supranuclear Palsy. Journal of Alzheimer's disease : JAD 2023 9 . Yan Zhang, Yanli Xue, Longcai Wang, Zhifa Han, Tao Wang, Haihua Zhang, Guiyou Liu, Xingjun Xi |
The molecular spectrum of amyloid-beta (A?) in neurodegenerative diseases beyond Alzheimer's disease. Brain pathology (Zurich, Switzerland) 2023 8 e13210. Shojiro Ichimata, Koji Yoshida, Jun Li, Ekaterina Rogaeva, Anthony E Lang, Gabor G Kova |
Network connectivity alterations across the MAPT mutation clinical spectrum. Annals of neurology 2023 7 . Liwen Zhang, Taru M Flagan, Suvi Häkkinen, Stephanie A Chu, Jesse A Brown, Alex J Lee, Lorenzo Pasquini, Maria Luisa Mandelli, Maria Luisa Gorno-Tempini, Virginia E Sturm, Jennifer S Yokoyama, Brian S Appleby, Yann Cobigo, Bradford C Dickerson, Kimiko Domoto-Reilly, Daniel H Geschwind, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Ging-Yuek Robin Hsiung, Edward D Huey, Kejal Kantarci, Argentina Lario Lago, Irene Litvan, Ian R Mackenzie, Mario F Mendez, Chiadi U Onyike, Eliana Marisa Ramos, Erik D Roberson, Maria Carmela Tartaglia, Arthur W Toga, Sandra Weintraub, Zbigniew K Wszolek, Leah K Forsberg, Hilary W Heuer, Bradley F Boeve, Adam L Boxer, Howard J Rosen, Bruce L Miller, William W Seeley, Suzee E Lee, |
Creating the Pick's disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick's disease. medRxiv : the preprint server for health sciences 2023 5 . Rebecca R Valentino, William J Scotton, Shanu F Roemer, Tammaryn Lashley, Michael G Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L Walton, Matthew C Baker, Hannah L Macpherson, Raquel Real, Alexandra I Soto-Beasley, Kin Mok, Tamas Revesz, Thomas T Warner, Zane Jaunmuktane, Bradley F Boeve, Elizabeth A Christopher, Michael DeTure, Ranjan Duara, Neill R Graff-Radford, Keith A Josephs, David S Knopman, Shunsuke Koga, Melissa E Murray, Kelly E Lyons, Rajesh Pahwa, Joseph E Parisi, Ronald C Petersen, Jennifer Whitwell, Lea T Grinberg, Bruce Miller, Athena Schlereth, William W Seeley, Salvatore Spina, Murray Grossman, David J Irwin, Edward B Lee, EunRan Suh, John Q Trojanowski, Vivianna M Van Deerlin, David A Wolk, Theresa R Connors, Patrick M Dooley, Matthew P Frosch, Derek H Oakley, Iban Aldecoa, Mircea Balasa, Ellen Gelpi, Sergi Borrego-Écija, Rosa Maria de Eugenio Huélamo, Jordi Gascon-Bayarri, Raquel Sánchez-Valle, Pilar Sanz-Cartagena, Gerard Piñol-Ripoll, Laura Molina-Porcel, Eileen H Bigio, Margaret E Flanagan, Tamar Gefen, Emily J Rogalski, Sandra Weintraub, Javier Redding-Ochoa, Koping Chang, Juan C Troncoso, Stefan Prokop, Kathy L Newell, Bernardino Ghetti, Matthew Jones, Anna Richardson, Andrew C Robinson, Federico Roncaroli, Julie Snowden, Kieren Allinson, Oliver Green, James B Rowe, Poonam Singh, Thomas G Beach, Geidy E Serrano, Xena E Flowers, James E Goldman, Allison C Heaps, Sandra P Leskinen, Andrew F Teich, Sandra E Black, Julia L Keith, Mario Masellis, Istvan Bodi, Andrew King, Safa-Al Sarraj, Claire Troakes, Glenda M Halliday, John R Hodges, Jillian J Kril, John B Kwok, Olivier Piguet, Marla Gearing, Thomas Arzberger, Sigrun Roeber, Johannes Attems, Christopher M Morris, Alan J Thomas, Bret M Evers, Charles L White, Naguib Mechawar, Anne A Sieben, Patrick P Cras, Bart B De Vil, Peter Paul P P De Deyn, Charles Duyckaerts, Isabelle Le Ber, Danielle Seihean, Sabrina Turbant-Leclere, Ian R MacKenzie, Catriona McLean, Matthew D Cykowski, John F Ervin, Shih-Hsiu J Wang, Caroline Graff, Inger Nennesmo, Rashed M Nagra, James Riehl, Gabor G Kovacs, Giorgio Giaccone, Benedetta Nacmias, Manuela Neumann, Lee-Cyn Ang, Elizabeth C Finger, Cornelis Blauwendraat, Mike A Nalls, Andrew B Singleton, Dan Vitale, Cristina Cunha, Agostinho Carvalho, Zbigniew K Wszolek, Huw R Morris, Rosa Rademakers, John A Hardy, Dennis W Dickson, Jonathan D Rohrer, Owen A Ro |
Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration. Research square 2024 4 . Rowan Saloner, Adam Staffaroni, Eric Dammer, Erik C B Johnson, Emily Paolillo, Amy Wise, Hilary Heuer, Leah Forsberg, Argentina Lario Lago, Julia Webb, Jacob Vogel, Alexander Santillo, Oskar Hansson, Joel Kramer, Bruce Miller, Jingyao Li, Joseph Loureiro, Rajeev Sivasankaran, Kathleen Worringer, Nicholas Seyfried, Jennifer Yokoyama, William Seeley, Salvatore Spina, Lea Grinberg, Lawren VandeVrede, Peter Ljubenkov, Ece Bayram, Andrea Bozoki, Danielle Brushaber, Ciaran Considine, Gregory Day, Bradford Dickerson, Kimiko Domoto-Reilly, Kelley Faber, Douglas Galasko, Daniel Geschwind, Nupur Ghoshal, Neill Graff-Radford, Chadwick Hales, Lawrence Honig, Ging-Yuek Hsiung, Edward Huey, John Kornak, Walter Kremers, Maria Lapid, Suzee Lee, Irene Litvan, Corey McMillan, Mario Mendez, Toji Miyagawa, Alexander Pantelyat, Belen Pascual, Henry Paulson, Leonard Petrucelli, Peter Pressman, Eliana Ramos, Katya Rascovsky, Erik Roberson, Rodolfo Savica, Allison Snyder, A Campbell Sullivan, Carmela Tartaglia, Marijne Vandebergh, Bradley Boeve, Howie Rosen, Julio Rojas, Adam Boxer, Kaitlin Casalet |
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study. The Lancet. Neurology 2024 4 23 (5): 487-499. Rebecca R Valentino, William J Scotton, Shanu F Roemer, Tammaryn Lashley, Michael G Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L Walton, Matthew C Baker, Hannah L Macpherson, Raquel Real, Alexandra I Soto-Beasley, Kin Mok, Tamas Revesz, Elizabeth A Christopher, Michael DeTure, William W Seeley, Edward B Lee, Matthew P Frosch, Laura Molina-Porcel, Tamar Gefen, Javier Redding-Ochoa, Bernardino Ghetti, Andrew C Robinson, Christopher Kobylecki, James B Rowe, Thomas G Beach, Andrew F Teich, Julia L Keith, Istvan Bodi, Glenda M Halliday, Marla Gearing, Thomas Arzberger, Christopher M Morris, Charles L White, Naguib Mechawar, Susana Boluda, Ian R MacKenzie, Catriona McLean, Matthew D Cykowski, Shih-Hsiu J Wang, Caroline Graff, Rashed M Nagra, Gabor G Kovacs, Giorgio Giaccone, Manuela Neumann, Lee-Cyn Ang, Agostinho Carvalho, Huw R Morris, Rosa Rademakers, John A Hardy, Dennis W Dickson, Jonathan D Rohrer, Owen A Ross, |
Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry. Journal of movement disorders 2024 1 . Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine Gy Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R Morris, Eng-King Tan, Adeline Sl |
Phenotypic spectrum of Progressive Supranuclear Palsy: Clinical study and APOE effect. Journal of movement disorders 2024 1 . Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouid |
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences 2024 1 . Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H Oertel, Gesine Respondek, Thomas Arzberger, Sigrun Roeber, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Charles L White, Huw Morris, Rohan de Silva, John F Crary, Alison M Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, Dennis W Dickson, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping L |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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