Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 99 Records) |
| Query Trace: Disease and TARDBP[original query] |
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| Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort. Neurobiology of aging 2022 Jul . Mathioudakis Lambros, Dimovasili Christina, Bourbouli Mara, Latsoudis Helen, Kokosali Evgenia, Gouna Garyfallia, Vogiatzi Emmanouella, Basta Maria, Kapetanaki Stefania, Panagiotakis Simeon, Kanterakis Alexandros, Boumpas Dimitrios, Lionis Christos, Plaitakis Andreas, Simos Panagiotis, Vgontzas Alexandros, Kafetzopoulos Dimitrios, Zaganas Ioann |
| Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis. Neurobiology of aging 2022 Aug 120 27-33. Kacem Imen, Sghaier Ikram, Peverelli Silvia, Souissi Emira, Ticozzi Nicola, Gharbi Alya, Ratti Antonia, Berrechid Amina Gargouri, Silani Vincenzo, Gouider Ria |
| Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China. BMC medical genomics 2022 8 15 (1): 173. Xu Fanxi, Huang Sen, Li Xu-Ying, Lin Jianing, Feng Xiuli, Xie Shu, Wang Zhanjun, Li Xian, Zhu Junge, Lai Hong, Xu Yanming, Huang Xusheng, Yao Xiaoli, Wang Chaodo |
| Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats. Journal of neurology, neurosurgery, and psychiatry 2022 8 93 (11): 1216-20. Chio Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Gallone Salvatore, Brunetti Maura, Barberis Marco, De Marchi Fabiola, Dalgard Clifton, Chia Ruth, Mora Gabriele, Iazzolino Barbara, Peotta Laura, Traynor Bryan, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Calvo Andr |
| Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
| Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 Aug . Dong Liling, Wang Jie, Liu Caiyan, Li Jie, Mao Chenhui, Huang Xinying, Chu Shanshan, Peng Bin, Cui Liying, Gao Ji |
| Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations. Frontiers in neurology 2022 8 13 931006. Spinelli Edoardo Gioele, Ghirelli Alma, Riva Nilo, Canu Elisa, Castelnovo Veronica, Domi Teuta, Pozzi Laura, Carrera Paola, Silani Vincenzo, Chiò Adriano, Filippi Massimo, Agosta Federi |
| A molecular view of amyotrophic lateral sclerosis through the lens of interaction network modules. PloS one 2022 5 17 (5): e0268159. Jensen Klaus Højgaard, Stalder Anna Katharina, Wernersson Rasmus, Roloff-Handschin Tim-Christoph, Hansen Daniel Hvidberg, Groenen Peter M |
| Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature. Journal of neurology 2022 Mar . Li Jinyue, Liu Qing, Sun Xiaohan, Zhang Kang, Liu Shuangwu, Wang Zhili, Yang Xunzhe, Liu Mingsheng, Cui Liying, Zhang X |
| Causal associations of genetic factors with clinical progression in amyotrophic lateral sclerosis. Computer methods and programs in biomedicine 2022 2 216 106681. Ahangaran Meysam, Chiò Adriano, D'Ovidio Fabrizio, Manera Umberto, Vasta Rosario, Canosa Antonio, Moglia Cristina, Calvo Andrea, Minaei-Bidgoli Behrouz, Jahed-Motlagh Mohammad-Re |
| Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study. BMC neurology 2022 12 22 (1): 454. Santamaría-García Hernando, Ogonowsky Natalia, Baez Sandra, Palacio Nicole, Reyes Pablo, Schulte Michael, López Andrea, Matallana Diana, Ibanez Agust |
| TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms. Frontiers in aging neuroscience 2022 10 14 1020948. Tiloca Cinzia, Goldwurm Stefano, Calcagno Narghes, Verde Federico, Peverelli Silvia, Calini Daniela, Zecchinelli Anna Lena, Sangalli Davide, Ratti Antonia, Pezzoli Gianni, Silani Vincenzo, Ticozzi Nico |
| Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes. European journal of nuclear medicine and molecular imaging 2022 1 49 (7): 2242-2250. Canosa Antonio, Calvo Andrea, Moglia Cristina, Vasta Rosario, Palumbo Francesca, Solero Luca, Di Pede Francesca, Cabras Sara, Arena Vincenzo, Zocco Grazia, Casale Federico, Brunetti Maura, Sbaiz Luca, Gallone Salvatore, Grassano Maurizio, Manera Umberto, Pagani Marco, Chiò Adria |
| Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum. Research square 2023 8 . Ting Shen, Jacob W Vogel, Jeffrey Duda, Jeffrey S Phillips, Philip A Cook, James Gee, Lauren Elman, Colin Quinn, Defne A Amado, Michael Baer, Lauren Massimo, Murray Grossman, David J Irwin, Corey T McMill |
| Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis. Neurology 2023 5 . Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan J Traynor, Lucia Corrado, Sandra Dalfonso, Letizia Mazzini, Andrea Cal |
| Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
| Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. medRxiv : the preprint server for health sciences 2023 10 . Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , , , David B Goldstein, Matthew B Har |
| Disease survival and progression in TARDBP ALS patients from Sardinia, Italy. Journal of neurology 2023 10 . Giuseppe Borghero, Francesca Pili, Antonella Muroni, Tommaso Ercoli, Maria Ida Pateri, Silvy Pilotto, Alessandra Maccabeo, Giovanni Defaz |
| Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration. Neurology 2024 9 103 (8): e209832. Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle E Brushaber, Adam M Staffaroni, Daniel H Geschwind, Amy A Wolf, Kejal Kantarci, Tania Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea C Bozoki, David Clark, R Ryan Darby, Bradford C Dickerson, Kimiko Domoto-Reilly, Julie A Fields, Douglas Galasko, Nupur Ghoshal, Neill R Graff-Radford, Ian M Grant, Lawrence S Honig, Ging-Yuek R Hsiung, Edward D Huey, David J Irwin, David S Knopman, Justin Y Kwan, Gabriel C Léger, Irene Litvan, Joseph C Masdeu, Mario F Mendez, Chiadi U Onyike, Belen Pascual, Peter S Pressman, Aaron Ritter, Erik D Roberson, Allison Snyder, Anna Campbell Sullivan, Maria Carmela Tartaglia, Dylan Wint, Hilary W Heuer, Leah K Forsberg, Adam L Boxer, Howard J Rosen, Bradley F Boeve, Rosa Rademakers, |
| Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis. Cellular and molecular life sciences : CMLS 2024 7 81 (1): 316. Maria Guarnaccia, Giovanna Morello, Valentina La Cognata, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavalla |
| Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients. Journal of neuromuscular diseases 2024 7 . Daniel Baumgartner, Zuzana Mušová, Jana Zídková, Petra Hedvi?áková, Eva Vl?ková, Lubica Joppeková, Tereza Kramá?ová, Lenka Fajkusová, Viktor Stránecký, Jan Geryk, Pavel Votýpka, Radim Mazan |
| Parkinson's Disease Gene Screening in Familial Cases from Central and South America. Movement disorders : official journal of the Movement Disorder Society 2024 7 . Oswaldo Lorenzo-Betancor, Seysha Mehta, Janvi Ramchandra, Sekinat Mumuney, Artur F Schumacher-Schuh, Mario Cornejo-Olivas, Elison H Sarapura-Castro, Luis Torres, Miguel A Inca-Martinez, Pilar Mazzetti, Carlos Cosentino, Federico Micheli, Vitor Tumas, Elena Dieguez, Victor Raggio, Vanderci Borges, Henrique B Ferraz, Pedro Chana-Cuevas, Marlene Jimenez-Del-Rio, Carlos Velez-Pardo, Sonia Moreno, Francisco Lopera, Jorge L Orozco-Velez, Beatriz Muñoz-Ospina, Carlos R M Rieder, Alex Medina-Escobar, Dora Yearout, Cyrus P Zabetian, Ignacio F Mata, |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. BMC genomics 2024 7 25 (1): 651. Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , , , David B Goldstein, Matthew B Har |
| 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 |
| Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration. medRxiv : the preprint server for health sciences 2024 4 . Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle Brushaber, Adam M Staffaroni, Daniel Geschwind, Amy Wolf, Kejal Kantarci, Tania F Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew C Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea Bozoki, David Clark, R Ryan Darby, Bradford C Dickerson, Kimiko Domoto-Reilly, Julie A Fields, Douglas R Galasko, Nupur Ghoshal, Neill Graff-Radford, Ian M Grant, Lawrence S Honig, Ging-Yuek Robin Hsiung, Edward D Huey, David Irwin, David S Knopman, Justin Y Kwan, Gabriel C Léger, Irene Litvan, Joseph C Masdeu, Mario F Mendez, Chiadi Onyike, Belen Pascual, Peter Pressman, Aaron Ritter, Erik D Roberson, Allison Snyder, Anna Campbell Sullivan, M Carmela Tartaglia, Dylan Wint, Hilary W Heuer, Leah K Forsberg, Adam L Boxer, Howard J Rosen, Bradley F Boeve, Rosa Rademake |
| Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study. Scientific reports 2024 12 14 (1): 30781. Ellie Mitsi, Christina Votsi, Pantelitsa Koutsou, Anthi Georghiou, Christiana C Christodoulou, Kleopas Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoulou, Paschalis Nicola |
| Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 12 1-10. Giuseppe Piga, Laura Fadda, Giuseppe Borghero, Alessandra Maccabeo, Francesca Pala, Maria Rita Murru, Sabrina Giglio, Monica Puligheddu, Gianluca Flor |
| Neural stem cell homeostasis is affected in cortical organoids carrying a mutation in Angiogenin. The Journal of pathology 2024 1 . Ross Ferguson, Michael A van Es, Leonard H van den Berg, Vasanta Subramani |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. Research square 2024 1 . Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , David B Goldstein, Matthew B Har |
- Page last reviewed:Feb 1, 2024
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