Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 56 Records) |
| Query Trace: Corticobasal Degeneration[original query] |
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| C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain : a journal of neurology 2013 Feb 136 (Pt 2): 385-91. Lesage Suzanne, Le Ber Isabelle, Condroyer Christel, Broussolle Emmanuel, Gabelle Audrey, Thobois Stéphane, Pasquier Florence, Mondon Karl, Dion Patrick A, Rochefort Daniel, Rouleau Guy A, Dürr Alexandra, Brice Alexis, |
| Glucocerebrosidase mutations in primary parkinsonism. Parkinsonism & related disorders 2014 Nov 20 (11): 1215-20. Asselta Rosanna, Rimoldi Valeria, Siri Chiara, Cilia Roberto, Guella Ilaria, Tesei Silvana, Soldà Giulia, Pezzoli Gianni, Duga Stefano, Goldwurm Stefa |
| Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of aging 2014 Dec 35 (12): 2881.e1-6. Sassi Celeste, Guerreiro Rita, Gibbs Raphael, Ding Jinhui, Lupton Michelle K, Troakes Claire, Al-Sarraj Safa, Niblock Michael, Gallo Jean-Marc, Adnan Jihad, Killick Richard, Brown Kristelle S, Medway Christopher, Lord Jenny, Turton James, Bras Jose, , Morgan Kevin, Powell John F, Singleton Andrew, Hardy Jo |
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
Nature communications 2015 6 7247. Kouri Naomi, Ross Owen A, Dombroski Beth, Younkin Curtis S, Serie Daniel J, Soto-Ortolaza Alexandra, Baker Matthew, Finch Ni Cole A, Yoon Hyejin, Kim Jungsu, Fujioka Shinsuke, McLean Catriona A, Ghetti Bernardino, Spina Salvatore, Cantwell Laura B, Farlow Martin R, Grafman Jordan, Huey Edward D, Ryung Han Mi, Beecher Sherry, Geller Evan T, Kretzschmar Hans A, Roeber Sigrun, Gearing Marla, Juncos Jorge L, Vonsattel Jean Paul G, Van Deerlin Vivianna M, Grossman Murray, Hurtig Howard I, Gross Rachel G, Arnold Steven E, Trojanowski John Q, Lee Virginia M, Wenning Gregor K, White Charles L, Höglinger Günter U, Müller Ulrich, Devlin Bernie, Golbe Lawrence I, Crook Julia, Parisi Joseph E, Boeve Bradley F, Josephs Keith A, Wszolek Zbigniew K, Uitti Ryan J, Graff-Radford Neill R, Litvan Irene, Younkin Steven G, Wang Li-San, Ertekin-Taner Nilüfer, Rademakers Rosa, Hakonarsen Hakon, Schellenberg Gerard D, Dickson Dennis |
| Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015 Oct . Cervera-Carles Laura, Pagonabarraga Javier, Pascual-Sedano Berta, Pastor Pau, Campolongo Antonia, Fortea Juan, Blesa Rafael, Alcolea Daniel, Morenas-Rodríguez Estrella, Sala Isabel, Lleó Alberto, Kulisevsky Jaime, Clarimón Jor |
| A Polymorphic Antioxidant Response Element Links NRF2/sMAF Binding to Enhanced MAPT Expression and Reduced Risk of Parkinsonian Disorders. Cell reports 2016 Apr . Wang Xuting, Campbell Michelle R, Lacher Sarah E, Cho Hye-Youn, Wan Ma, Crowl Christopher L, Chorley Brian N, Bond Gareth L, Kleeberger Steven R, Slattery Matthew, Bell Douglas |
| Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration. Movement disorders : official journal of the Movement Disorder Society 2016 Oct . Sanchez-Contreras Monica, Heckman Michael G, Tacik Pawel, Diehl Nancy, Brown Patricia H, Soto-Ortolaza Alexandra I, Christopher Elizabeth A, Walton Ronald L, Ross Owen A, Golbe Lawrence I, Graff-Radford Neill, Wszolek Zbigniew K, Dickson Dennis W, Rademakers Ro |
| Meta-analysis of the association between variants in MAPT and neurodegenerative diseases. Oncotarget 2017 Mar . Zhang Cheng-Cheng, Zhu Jun-Xia, Wan Yu, Tan Lin, Wang Hui-Fu, Yu Jin-Tai, Tan L |
| Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta neuropathologica 2017 05 133 (5): 825-837. Yokoyama Jennifer S, Karch Celeste M, Fan Chun C, Bonham Luke W, Kouri Naomi, Ross Owen A, Rademakers Rosa, Kim Jungsu, Wang Yunpeng, Höglinger Günter U, Müller Ulrich, Ferrari Raffaele, Hardy John, , Momeni Parastoo, Sugrue Leo P, Hess Christopher P, James Barkovich A, Boxer Adam L, Seeley William W, Rabinovici Gil D, Rosen Howard J, Miller Bruce L, Schmansky Nicholas J, Fischl Bruce, Hyman Bradley T, Dickson Dennis W, Schellenberg Gerard D, Andreassen Ole A, Dale Anders M, Desikan Rahul |
| Genome-wide association study identifies MAPT locus influencing human plasma tau levels.
Neurology 2017 Jan . Chen Jason, Yu Jin-Tai, Wojta Kevin, Wang Hui-Fu, Zetterberg Henrik, Blennow Kaj, Yokoyama Jennifer S, Weiner Michael W, Kramer Joel H, Rosen Howard, Miller Bruce L, Coppola Giovanni, Boxer Adam L, |
| Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype. Acta neuropathologica 2018 Jun . Koga Shunsuke, Kouri Naomi, Walton Ronald L, Ebbert Mark T W, Josephs Keith A, Litvan Irene, Graff-Radford Neill, Ahlskog J Eric, Uitti Ryan J, van Gerpen Jay A, Boeve Bradley F, Parks Adam, Ross Owen A, Dickson Dennis |
| Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA neurology 2018 Jul 75 (7): 860-875. Karch Celeste M, Wen Natalie, Fan Chun C, Yokoyama Jennifer S, Kouri Naomi, Ross Owen A, Höglinger Gunter, Müller Ulrich, Ferrari Raffaele, Hardy John, Schellenberg Gerard D, Sleiman Patrick M, Momeni Parastoo, Hess Christopher P, Miller Bruce L, Sharma Manu, Van Deerlin Vivianna, Smeland Olav B, Andreassen Ole A, Dale Anders M, Desikan Rahul S, |
| Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants. Neurobiology of aging 2018 06 66 177.e7-177.e10. Razquin Cristina, Ortega-Cubero Sara, Rojo-Bustamante Estefania, Diez-Fairen Monica, Lorenzo Elena, Alonso Elena, Ezquerra Mario, Ross Owen A, Carcel Maria, Lorenzo-Betancor Oswaldo, Soto Alexandra I, Burgess Jeremy D, Ertekin-Taner Nilüfer, Dickson Dennis W, Pastor Maria A, Tolosa Eduard, Pastor P |
| Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series. Journal of neurology 2018 10 265 (12): 2960-2971. Kim Eun-Joo, Brown Jesse A, Deng Jersey, Hwang Ji-Hye L, Spina Salvatore, Miller Zachary A, DeMay Mary G, Valcour Victor, Karydas Anna, Ramos Eliana Marisa, Coppola Giovanni, Miller Bruce L, Rosen Howard J, Seeley William W, Grinberg Lea |
| Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS medicine 2018 1 15 (1): e1002487. Broce Iris, Karch Celeste M, Wen Natalie, Fan Chun C, Wang Yunpeng, Tan Chin Hong, Kouri Naomi, Ross Owen A, Höglinger Günter U, Muller Ulrich, Hardy John, , Momeni Parastoo, Hess Christopher P, Dillon William P, Miller Zachary A, Bonham Luke W, Rabinovici Gil D, Rosen Howard J, Schellenberg Gerard D, Franke Andre, Karlsen Tom H, Veldink Jan H, Ferrari Raffaele, Yokoyama Jennifer S, Miller Bruce L, Andreassen Ole A, Dale Anders M, Desikan Rahul S, Sugrue Leo |
| MAPT p.V363I mutation: A rare cause of corticobasal degeneration. Neurology. Genetics 2019 8 5 (4): e347. Ahmed Sarah, Fairen Monica Diez, Sabir Marya S, Pastor Pau, Ding Jinhui, Ispierto Lourdes, Butala Ankur, Morris Christopher M, Schulte Claudia, Gasser Thomas, Jabbari Edwin, Pletnikova Olga, Morris Huw R, Troncoso Juan, Gelpi Ellen, Pantelyat Alexander, Scholz Sonja |
| Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration. Neurology 2019 4 92 (21): e2472-e2482. Forrest Shelley L, Crockford Daniel R, Sizemova Anastasia, McCann Heather, Shepherd Claire E, McGeachie Andrew B, Affleck Andrew J, Carew-Jones Francine, Bartley Lauren, Kwok John B, Kim Woojin Scott, Jary Eve, Tan Rachel H, McGinley Ciara V, Piguet Olivier, Hodges John R, Kril Jillian J, Halliday Glenda |
| Assessment of APOE in atypical parkinsonism syndromes. Neurobiology of disease 2019 Feb . Sabir Marya S, Blauwendraat Cornelis, Ahmed Sarah, Serrano Geidy E, Beach Thomas G, Perkins Matthew, Rice Ann C, Masliah Eliezer, Morris Christopher M, Pihlstrom Lasse, Pantelyat Alexander, Resnick Susan M, Cookson Mark R, Hernandez Dena G, Albert Marilyn, Dawson Ted M, Rosenthal Liana S, Houlden Henry, Pletnikova Olga, Troncoso Juan, Scholz Sonja |
| A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies. Stem cell reports 2019 10 13 (5): 939-955. Karch Celeste M, Kao Aimee W, Karydas Anna, Onanuga Khadijah, Martinez Rita, Argouarch Andrea, Wang Chao, Huang Cindy, Sohn Peter Dongmin, Bowles Kathryn R, Spina Salvatore, Silva M Catarina, Marsh Jacob A, Hsu Simon, Pugh Derian A, Ghoshal Nupur, Norton Joanne, Huang Yadong, Lee Suzee E, Seeley William W, Theofilas Panagiotis, Grinberg Lea T, Moreno Fermin, McIlroy Kathryn, Boeve Bradley F, Cairns Nigel J, Crary John F, Haggarty Stephen J, Ichida Justin K, Kosik Kenneth S, Miller Bruce L, Gan Li, Goate Alison M, Temple Sally, |
| 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 |
| Novel tau filament fold in corticobasal degeneration. Nature 2020 2 580 (7802): 283-287. Zhang Wenjuan, Tarutani Airi, Newell Kathy L, Murzin Alexey G, Matsubara Tomoyasu, Falcon Benjamin, Vidal Ruben, Garringer Holly J, Shi Yang, Ikeuchi Takeshi, Murayama Shigeo, Ghetti Bernardino, Hasegawa Masato, Goedert Michel, Scheres Sjors H |
| MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features. Acta neuropathologica communications 2020 12 8 (1): 218. Valentino Rebecca R, Koga Shunsuke, Walton Ronald L, Soto-Beasley Alexandra I, Kouri Naomi, DeTure Michael A, Murray Melissa E, Johnson Patrick W, Petersen Ronald C, Boeve Bradley F, Uitti Ryan J, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen A, Heckman Michael |
| Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population. Acta neuropathologica communications 2020 Nov 8 (1): 187. Kaivola Karri, Salmi Samuli J, Jansson Lilja, Launes Jyrki, Hokkanen Laura, Niemi Anna-Kaisa, Majamaa Kari, Lahti Jari, Eriksson Johan G, Strandberg Timo, Laaksovirta Hannu, Tienari Pentti |
| Primary Tau Pathology, Not Copathology, Correlates With Clinical Symptoms in PSP and CBD. Journal of neuropathology and experimental neurology 2019 Dec . Robinson John L, Yan Ning, Caswell Carrie, Xie Sharon X, Suh EunRan, Van Deerlin Vivianna M, Gibbons Garrett, Irwin David J, Grossman Murray, Lee Edward B, Lee Virginia M-Y, Miller Bruce, Trojanowski John |
| Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates. Acta neuropathologica 2020 1 139 (4): 717-734. Ling Helen, Gelpi Ellen, Davey Karen, Jaunmuktane Zane, Mok Kin Y, Jabbari Edwin, Simone Roberto, R'Bibo Lea, Brandner Sebastian, Ellis Matthew J, Attems Johannes, Mann David, Halliday Glenda M, Al-Sarraj S, Hedreen J, Ironside James W, Kovacs Gabor G, Kovari E, Love S, Vonsattel Jean Paul G, Allinson Kieren S J, Hansen Daniela, Bradshaw Teisha, Setó-Salvia Núria, Wray Selina, de Silva Rohan, Morris Huw R, Warner Thomas T, Hardy John, Holton Janice L, Revesz Tam |
| 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 |
| 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 |
| Concurrent tau pathologies in frontotemporal lobar degeneration with TDP-43 pathology. Neuropathology and applied neurobiology 2021 11 48 (2): e12778. Koga Shunsuke, Zhou Xiaolai, Murakami Aya, Fernandez De Castro Cristhoper, Baker Matthew C, Rademakers Rosa, Dickson Dennis |
| 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 |
| 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, |
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