Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 339 Records) |
| Query Trace: Disease and C9orf72[original query] |
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| C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds. Neurology. Genetics 2023 12 10 (1): e200112. Marie Ryan, Mark A Doherty, Ahmad Al Khleifat, Emmet Costello, Jennifer C Hengeveld, Mark Heverin, Ammar Al-Chalabi, Russell L Mclaughlin, Orla Hardim |
| Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 12 1-4. Silvia Peverelli, Alberto Brusati, Valeria Casiraghi, Marta Nice Sorce, Sabrina Invernizzi, Serena Santangelo, Claudia Morelli, Federico Verde, Vincenzo Silani, Nicola Ticozzi, Antonia Rat |
| 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 |
| 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, |
| NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons. Human molecular genetics 2024 9 . Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, Valeria Casiraghi, Silvia Peverelli, Alberto Brusati, Claudia Colombrita, Nicola Ticozzi, Vincenzo Silani, Patrizia Bossolasco, Antonia Rat |
| Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions. Human molecular genetics 2024 9 . Anna-Karin Roos, Erica Stenvall, Emmy Skelton Kockum, Kornelia Åman Grönlund, Helena Alstermark, Anna Wuolikainen, Peter M Andersen, Angelica Nordin, Karin M E Forsbe |
| C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan. Journal of the neurological sciences 2024 9 466 123209. Seiji Emori, Kodai Kume, Yoshiaki Nakayama, Hidefumi Ito, Hideshi Kawaka |
| Clinical, neuropathological, and molecular characteristics of rapidly progressive dementia with Lewy bodies: a distinct clinicopathological entity? Alzheimer's research & therapy 2024 9 16 (1): 201. Giuseppe Mario Bentivenga, Simone Baiardi, Andrea Mastrangelo, Edoardo Ruggeri, Angela Mammana, Alice Ticca, Marcello Rossi, Sabina Capellari, Piero Parc |
| Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study. Journal of Alzheimer's disease : JAD 2024 8 . Maria Serpente, Chiara Fenoglio, Marina Arcaro, Tiziana Carandini, Luca Sacchi, Manuela Pintus, Emanuela Rotondo, Vittoria Borracci, Laura Ghezzi, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sánchez Valle, Robert Laforce, Caroline Graff, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Florence Pasquier, Simon Ducharme, Chris R Butler, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, James B Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Jonathan D Rohrer, Andrea Arighi, Daniela Galimberti, |
| Cognitive reserve as a modulator of cognitive decline and of behavioral symptoms in patients with amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 8 1-11. Sara Simão, Miguel Oliveira Santos, Marta Gromicho, Isabel Pavão Martins, Mamede De Carval |
| Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia. Movement disorders : official journal of the Movement Disorder Society 2024 8 . Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad-Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng-King Tan, Shen-Yang L |
| 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 |
| Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study. Brain communications 2024 7 6 (4): fcae185. Enrico Premi, Matteo Diano, Irene Mattioli, Daniele Altomare, Valentina Cantoni, Martina Bocchetta, Roberto Gasparotti, Emanuele Buratti, Marta Pengo, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, Carolin Heller, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Daniela Galimberti, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Matthis Synofzik, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Barbara Borroni, |
| Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions. International journal of molecular sciences 2024 7 25 (13): . Antonio Longobardi, Sonia Bellini, Roland Nicsanu, Andrea Pilotto, Andrea Geviti, Alessandro Facconi, Chiara Tolassi, Ilenia Libri, Claudia Saraceno, Silvia Fostinelli, Barbara Borroni, Alessandro Padovani, Giuliano Binetti, Roberta Ghido |
| 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 |
| Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland. Journal of neurology 2024 6 . Danielle J Leighton, Morad Ansari, Judith Newton, Elaine Cleary, Laura Stephenson, Emily Beswick, Javier Carod Artal, Richard Davenport, Callum Duncan, George H Gorrie, Ian Morrison, Robert Swingler, Ian J Deary, Mary Porteous, Siddharthan Chandran, Suvankar Pal, |
| Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics 2024 6 . Elka Stefanova, Ana Marjanovi?, Valerija Dobri?i?, Gorana Mandi?-Stojmenovi?, Tanja Stojkovi?, Marija Brankovi?, Maksim Šar?evi?, Ivana Novakovi?, Vladimir S Kost |
| Progressive Cerebrocerebellar Uncoupling in Sporadic and Genetic Forms of Amyotrophic Lateral Sclerosis. Neurology 2024 6 103 (2): e209623. Marlene Tahedl, Ee Ling Tan, Jana Kleinerova, Siobhan Delaney, Jennifer C Hengeveld, Mark A Doherty, Russell L Mclaughlin, Pierre-Francois Pradat, Cédric Raoul, Fabrice Ango, Orla Hardiman, Kai Ming Chang, Jasmin Lope, Peter Be |
| Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study. Journal of neurology 2024 6 . Dongchao Shen, Xunzhe Yang, Di He, Kang Zhang, Shuangwu Liu, Xiaohan Sun, Jinyue Li, Zhengyi Cai, Mingsheng Liu, Xue Zhang, Qing Liu, Liying C |
| 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 |
| 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 |
| Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. Cells 2024 4 13 (8): . Paola Ruffo, Francesca De Amicis, Vincenzo La Bella, Francesca Luisa Confor |
| 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 |
| [Not Available]. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 4 . Maurice Pasternak, Saira S Mirza, Nicholas Luciw, Henri J M M Mutsaerts, Jan Petr, David Thomas, David Cash, Martina Bocchetta, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ekaterina Rogaeva, Lucy L Russell, Arabella Bouzigues, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Robert Laforce, Pietro Tiraboschi, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Chris Butler, Alex Gerhard, Raquel Sanchez-Valle, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Johannes Levin, Markus Otto, Isabel Santana, Antonio P Strafella, Bradley J MacIntosh, Jonathan D Rohrer, Mario Masellis, |
| 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 |
| Reward processing deficits arise early in familial frontotemporal dementia. Frontiers in neuroscience 2024 11 18 1491972. Noah G Cryns, Emily G Hardy, Ashlin R K Roy, Samir Datta, Andrzej Sokolowski, Virginia E Sturm, Joel H Kramer, Adam L Boxer, Bruce L Miller, Howard J Rosen, David C Per |
| Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations. BMC medical genomics 2024 1 17 (1): 30. Zsófia Flóra Nagy, Margit Pál, József I Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Szé |
| Brain aging rejuvenation factors in adults with genetic and sporadic neurodegenerative disease. Brain communications 2025 1 7 (1): fcae432. Kaitlin B Casaletto, Rowan Saloner, John Kornak, Adam M Staffaroni, Saul Villeda, Emily Paolillo, Anna M VandeBunte, Claire J Cadwallader, Argentina Lario Lago, Julia Webb, Coty Chen, Katya Rascovsky, Toji Miyagawa, Eliana Marisa Ramos, Joseph C Masdeu, Alexander Pantelyat, Maria Carmela Tartaglia, Andrea Bozoki, Peter S Pressman, Rosa Rademakers, Walter Kremers, Ryan Darby, Kyan Younes, Belen Pascual, Nupur Ghoshal, Maria Lapid, Ian R A Mackenzie, Jingyao Li, Ging-Yuek Robin Hsiung, Jacob N Hall, Maya V Yutsis, Irene Litvan, Victor W Henderson, Rajeev Sivasankaran, Katie Worringer, Kimiko Domoto-Reilly, Allison Synder, Joseph Loureiro, Joel H Kramer, Hilary Heuer, Leah K Forsberg, Howard J Rosen, Bradley Boeve, Julio C Rojas, Adam L Box |
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