Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Disease Progression and C9orf72[original query] |
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| Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation. Neuropathology and applied neurobiology 2013 Aug 39 (5): 562-71. Kirby J, Highley J R, Cox L, Goodall E F, Hewitt C, Hartley J A, Hollinger H C, Fox M, Ince P G, McDermott C J, Shaw P |
| Longitudinal diffusion tensor imaging in frontotemporal dementia. Annals of neurology 2015 Jan 77 (1): 33-46. Mahoney Colin J, Simpson Ivor J A, Nicholas Jennifer M, Fletcher Phillip D, Downey Laura E, Golden Hannah L, Clark Camilla N, Schmitz Nicole, Rohrer Jonathan D, Schott Jonathan M, Zhang Hui, Ourselin Sebastian, Warren Jason D, Fox Nick |
| HFE p.H63D polymorphism does not influence ALS phenotype and survival. Neurobiology of aging 2015 Oct 36 (10): 2906.e7-2906.e11. Chiò Adriano, Mora Gabriele, Sabatelli Mario, Caponnetto Claudia, Lunetta Christian, Traynor Bryan J, Johnson Janel O, Nalls Mike A, Calvo Andrea, Moglia Cristina, Borghero Giuseppe, Monsurrò Maria Rosaria, La Bella Vincenzo, Volanti Paolo, Simone Isabella, Salvi Fabrizio, Logullo Francesco O, Nilo Riva, Giannini Fabio, Mandrioli Jessica, Tanel Raffaella, Murru Maria Rita, Mandich Paola, Zollino Marcella, Conforti Francesca L, Penco Silvana, , , Brunetti Maura, Barberis Marco, Restagno Gabriel |
| Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis. The Lancet. Neurology 2015 Mar 14 (3): 253-62. Rohrer Jonathan D, Nicholas Jennifer M, Cash David M, van Swieten John, Dopper Elise, Jiskoot Lize, van Minkelen Rick, Rombouts Serge A, Cardoso M Jorge, Clegg Shona, Espak Miklos, Mead Simon, Thomas David L, De Vita Enrico, Masellis Mario, Black Sandra E, Freedman Morris, Keren Ron, MacIntosh Bradley J, Rogaeva Ekaterina, Tang-Wai David, Tartaglia Maria Carmela, Laforce Robert, Tagliavini Fabrizio, Tiraboschi Pietro, Redaelli Veronica, Prioni Sara, Grisoli Marina, Borroni Barbara, Padovani Alessandro, Galimberti Daniela, Scarpini Elio, Arighi Andrea, Fumagalli Giorgio, Rowe James B, Coyle-Gilchrist Ian, Graff Caroline, Fallström Marie, Jelic Vesna, Ståhlbom Anne Kinhult, Andersson Christin, Thonberg Håkan, Lilius Lena, Frisoni Giovanni B, Pievani Michela, Bocchetta Martina, Benussi Luisa, Ghidoni Roberta, Finger Elizabeth, Sorbi Sandro, Nacmias Benedetta, Lombardi Gemma, Polito Cristina, Warren Jason D, Ourselin Sebastien, Fox Nick C, Rossor Martin |
| Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Frontiers in molecular neuroscience 2017 10 370. Cooper-Knock Johnathan, Robins Henry, Niedermoser Isabell, Wyles Matthew, Heath Paul R, Higginbottom Adrian, Walsh Theresa, Kazoka Mbombe, , Ince Paul G, Hautbergue Guillaume M, McDermott Christopher J, Kirby Janine, Shaw Pamela |
| Peripheral inflammatory markers and clinical correlations in patients with frontotemporal lobar degeneration with and without the C9orf72 repeat expansion. Journal of neurology 2019 Sep . Katisko Kasper, Solje Eino, Korhonen Paula, Jääskeläinen Olli, Loppi Sanna, Hartikainen Päivi, Koivisto Anne M, Kontkanen Aleksi, Korhonen Ville E, Helisalmi Seppo, Malm Tarja, Herukka Sanna-Kaisa, Remes Anne M, Haapasalo Annakai |
| Genetic predictors of survival in behavioral variant frontotemporal degeneration. Neurology 2019 9 93 (18): e1707-e1714. Caswell Carrie, McMillan Corey T, Xie Sharon X, Van Deerlin Vivianna M, Suh EunRan, Lee Edward B, Trojanowski John Q, Lee Virginia M-Y, Irwin David J, Grossman Murray, Massimo Lauren |
| Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis. Frontiers in neuroscience 2019 5 13 440. Consonni Monica, Dalla Bella Eleonora, Nigri Anna, Pinardi Chiara, Demichelis Greta, Porcu Luca, Gellera Cinzia, Pensato Viviana, Cappa Stefano F, Bruzzone Maria Grazia, Lauria Giuseppe, Ferraro Stefan |
| Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. The Lancet. Neurology 2019 Dec 18 (12): 1103-1111. van der Ende Emma L, Meeter Lieke H, Poos Jackie M, Panman Jessica L, Jiskoot Lize C, Dopper Elise G P, Papma Janne M, de Jong Frank Jan, Verberk Inge M W, Teunissen Charlotte, Rizopoulos Dimitris, Heller Carolin, Convery Rhian S, Moore Katrina M, Bocchetta Martina, Neason Mollie, Cash David M, Borroni Barbara, Galimberti Daniela, Sanchez-Valle Raquel, Laforce Robert, Moreno Fermin, Synofzik Matthis, Graff Caroline, Masellis Mario, Carmela Tartaglia Maria, Rowe James B, Vandenberghe Rik, Finger Elizabeth, Tagliavini Fabrizio, de Mendonça Alexandre, Santana Isabel, Butler Chris, Ducharme Simon, Gerhard Alex, Danek Adrian, Levin Johannes, Otto Markus, Frisoni Giovanni B, Cappa Stefano, Pijnenburg Yolande A L, Rohrer Jonathan D, van Swieten John C, |
| Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis. Neurology 2020 5 94 (24): e2592-e2604. van der Burgh Hannelore K, Westeneng Henk-Jan, Walhout Renée, van Veenhuijzen Kevin, Tan Harold H G, Meier Jil M, Bakker Leonhard A, Hendrikse Jeroen, van Es Michael A, Veldink Jan H, van den Heuvel Martijn P, van den Berg Leonard |
| Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia. Journal of neurology 2020 Feb . Poos J M, Jiskoot L C, Leijdesdorff S M J, Seelaar H, Panman J L, van der Ende E L, Mol M O, Meeter L H H, Pijnenburg Y A L, Donker Kaat L, de Jong F J, van Swieten J C, Papma J M, van den Berg |
| Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 1 16 (1): 11-21. Staffaroni Adam M, Bajorek Lynn, Casaletto Kaitlin B, Cobigo Yann, Goh Sheng-Yang M, Wolf Amy, Heuer Hilary W, Elahi Fanny M, Ljubenkov Peter A, Dever Reilly, Kornak John, Appleby Brian, Bove Jessica, Bordelon Yvette, Brannelly Patrick, Brushaber Danielle, Caso Christina, Coppola Giovanni, Dheel Christina, Dickerson Bradford C, Dickinson Susan, Dominguez Sophia, Domoto-Reilly Kimiko, Faber Kelly, Ferrall Jessica, Fields Julie A, Fishman Ann, Fong Jamie, Foroud Tatiana, Forsberg Leah K, Gavrilova Ralitza, Gearhart Debra, Ghazanfari Behnaz, Ghoshal Nupur, Goldman Jill, Graff-Radford Jonathan, Graff-Radford Neill, Grant Ian, Grossman Murray, Haley Dana, Hsiung Ging-Yuek, Huey Edward D, Irwin David J, Jones David T, Jones Lynne, Kantarci Kejal, Karydas Anna, Kaufer Daniel I, Kerwin Diana R, Knopman David S, Kraft Ruth, Kremers Walter K, Kukull Walter A, Litvan Irene, Lucente Diane, Lungu Codrin, Mackenzie Ian R, Maldonado Miranda, Manoochehri Masood, McGinnis Scott M, McKinley Emily, Mendez Mario F, Miller Bruce L, Multani Namita, Onyike Chiadi, Padmanabhan Jaya, Pantelyat Alex, Pearlman Rodney, Petrucelli Len, Potter Madeline, Rademakers Rosa, Ramos Eliana Marisa, Rankin Katherine P, Rascovsky Katya, Roberson Erik D, Rogalski Emily, Sengdy Pheth, Shaw Leslie M, Syrjanen Jeremy, Tartaglia M Carmela, Tatton Nadine, Taylor Joanne, Toga Arthur, Trojanowski John Q, Weintraub Sandra, Wang Ping, Wong Bonnie, Wszolek Zbigniew, Boxer Adam L, Boeve Brad F, Kramer Joel H, Rosen Howard J, |
| Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis. Neurological research 2021 8 44 (3): 206-216. Liu WenChao, Li XiaoGang, Sun Yan, Yu XiaoTong, Wang Yan, Liu Na, Deng M |
| Humoral response to neurofilaments and dipeptide repeats in ALS progression. Annals of clinical and translational neurology 2021 Jul . Puentes Fabiola, Lombardi Vittoria, Lu Ching-Hua, Yildiz Ozlem, Fratta Pietro, Isaacs Adrian, Bobeva Yoana, Wuu Joanne, , , Benatar Michael, Malaspina Andr |
| Synaptic density in carriers of C9orf72 mutations: a [ C]UCB-J PET study. Annals of clinical and translational neurology 2021 6 8 (7): 1515-1523. Malpetti Maura, Holland Negin, Jones P Simon, Ye Rong, Cope Thomas E, Fryer Tim D, Hong Young T, Savulich George, Rittman Timothy, Passamonti Luca, Mak Elijah, Aigbirhio Franklin I, O'Brien John T, Rowe James |
| Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration. Neurology 2021 4 96 (18): e2296-e2312. Rojas Julio C, Wang Ping, Staffaroni Adam M, Heller Carolin, Cobigo Yann, Wolf Amy, Goh Sheng-Yang M, Ljubenkov Peter A, Heuer Hilary W, Fong Jamie C, Taylor Joanne B, Veras Eliseo, Song Linan, Jeromin Andreas, Hanlon David, Yu Lili, Khinikar Arvind, Sivasankaran Rajeev, Kieloch Agnieszka, Valentin Marie-Anne, Karydas Anna M, Mitic Laura L, Pearlman Rodney, Kornak John, Kramer Joel H, Miller Bruce L, Kantarci Kejal, Knopman David S, Graff-Radford Neill, Petrucelli Leonard, Rademakers Rosa, Irwin David J, Grossman Murray, Ramos Eliana Marisa, Coppola Giovanni, Mendez Mario F, Bordelon Yvette, Dickerson Bradford C, Ghoshal Nupur, Huey Edward D, Mackenzie Ian R, Appleby Brian S, Domoto-Reilly Kimiko, Hsiung Ging-Yuek R, Toga Arthur W, Weintraub Sandra, Kaufer Daniel I, Kerwin Diana, Litvan Irene, Onyike Chiadikaobi U, Pantelyat Alexander, Roberson Erik D, Tartaglia Maria C, Foroud Tatiana, Chen Weiping, Czerkowicz Julie, Graham Danielle L, van Swieten John C, Borroni Barbara, Sanchez-Valle Raquel, Moreno Fermin, Laforce Robert, Graff Caroline, Synofzik Matthis, Galimberti Daniela, Rowe James B, Masellis Mario, Finger Elizabeth, Vandenberghe Rik, de Mendonça Alexandre, Tagliavini Fabrizio, Santana Isabel, Ducharme Simon, Butler Chris R, Gerhard Alexander, Levin Johannes, Danek Adrian, Otto Markus, Sorbi Sandro, Cash David M, Convery Rhian S, Bocchetta Martina, Foiani Martha, Greaves Caroline V, Peakman Georgia, Russell Lucy, Swift Imogen, Todd Emily, Rohrer Jonathan D, Boeve Bradley F, Rosen Howard J, Boxer Adam L, |
| Mutation-specific metabolic profiles in presymptomatic amyotrophic lateral sclerosis. European journal of neurology 2022 9 30 (1): 87-95. Xia Kailin, Witzel Simon, Witzel Christina, Klose Veronika, Fan Dongsheng, Ludolph Albert C, Dorst Johann |
| Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum. Neurobiology of aging 2022 8 119 117-126. Witzel Simon, Wagner Matias, Zhao Chen, Kandler Katharina, Graf Elisabeth, Berutti Riccardo, Oexle Konrad, Brenner David, Winkelmann Juliane, Ludolph Albert |
| 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 |
| Language impairment in the genetic forms of behavioural variant frontotemporal dementia. Journal of neurology 2022 12 . Samra Kiran, MacDougall Amy M, Bouzigues Arabella, Bocchetta Martina, Cash David M, Greaves Caroline V, Convery Rhian S, van Swieten John C, Seelaar Harro, Jiskoot Lize, Moreno Fermin, Sanchez-Valle Raquel, Laforce Robert, Graff Caroline, Masellis Mario, Tartaglia Maria Carmela, Rowe James B, Borroni Barbara, Finger Elizabeth, Synofzik Matthis, Galimberti Daniela, Vandenberghe Rik, de Mendonça Alexandre, Butler Christopher R, Gerhard Alexander, Ducharme Simon, Le Ber Isabelle, Tiraboschi Pietro, Santana Isabel, Pasquier Florence, Levin Johannes, Otto Markus, Sorbi Sandro, Rohrer Jonathan D, Russell Lucy L, |
| Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers. NeuroImage. Clinical 2022 10 36 103222. Tondo Giacomo, Mazzini Letizia, Caminiti Silvia Paola, Sarnelli Maria Francesca, Corrado Lucia, Matheoud Roberta, D'Alfonso Sandra, Cantello Roberto, Sacchetti Gian Mauro, Perani Daniela, Comi Cristoforo, De Marchi Fabio |
| Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report. Frontiers in genetics 2023 9 14 1208673. Elif Bayraktar, Vildan Çiftçi, Hilmi Uysal, A Nazl? Ba? |
| 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 |
| Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis. Brain communications 2023 5 5 (3): fcad152. Wolfgang P Ruf, Matej Boros, Axel Freischmidt, David Brenner, Veselin Grozdanov, Joao de Meirelles, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Grosskreutz, Ute Weyen, Rene Guenther, Martin Regensburger, Tim Hagenacker, Jan C Koch, Alexander Emmer, Annekathrin Roediger, Robert Steinbach, Joachim Wolf, Jochen H Weishaupt, Paul Lingor, Marcus Deschauer, Isabell Cordts, Thomas Klopstock, Peter Reilich, Florian Schoeberl, Berthold Schrank, Daniel Zeller, Andreas Hermann, Antje Knehr, Kornelia Günther, Johannes Dorst, Joachim Schuster, Reiner Siebert, Albert C Ludolph, Kathrin Müll |
| Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping 2023 3 . Bussy Aurélie, Levy Jake P, Best Tristin, Patel Raihaan, Cupo Lani, Van Langenhove Tim, Nielsen Jørgen E, Pijnenburg Yolande, Waldö Maria Landqvist, Remes Anne M, Schroeter Matthias L, Santana Isabel, Pasquier Florence, Otto Markus, Danek Adrian, Levin Johannes, Le Ber Isabelle, Vandenberghe Rik, Synofzik Matthis, Moreno Fermin, de Mendonça Alexandre, Sanchez-Valle Raquel, Laforce Robert, Langheinrich Tobias, Gerhard Alexander, Graff Caroline, Butler Chris R, Sorbi Sandro, Jiskoot Lize, Seelaar Harro, van Swieten John C, Finger Elizabeth, Tartaglia Maria Carmela, Masellis Mario, Tiraboschi Pietro, Galimberti Daniela, Borroni Barbara, Rowe James B, Bocchetta Martina, Rohrer Jonathan D, Devenyi Gabriel A, Chakravarty M Mallar, Ducharme Simon, |
| 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 |
| 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 |
| 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 |
| 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 |
| [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, |
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