Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 460 Records) |
Query Trace: C9orf72[original query] |
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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 |
Psychopharmacological Medication Use in Frontotemporal Dementia at the Time of Diagnosis: Comparison with Alzheimer's Disease. Journal of Alzheimer's disease : JAD 2023 8 . Kasper Katisko, Johanna Krüger, Helmi Soppela, Päivi Hartikainen, Annakaisa Haapasalo, Anne M Remes, Eino Sol |
No Association of Multiple Sclerosis with C9orf72 Hexanucleotide Repeat Size in an Austrian Cohort. International journal of molecular sciences 2023 7 24 (14): . Theresa König, Fritz Leutmezer, Thomas Berger, Alexander Zimprich, Christiane Schmied, Elisabeth Stögmann, Tobias Zrza |
Clinical Value of Longitudinal Serum Neurofilament Light Chain in Prodromal Genetic Frontotemporal Dementia. Neurology 2023 7 . Lucia A A Giannini, Harro Seelaar, Emma L van der Ende, Jackie M Poos, Lize C Jiskoot, Elise G P Dopper, Yolande A L Pijnenburg, Eline A J Willemse, Lisa Vermunt, Charlotte Teunissen, John van Swieten, Lieke H Meet |
Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors. Muscle & nerve 2023 7 . Giuseppe Borghero, Maria Margherita Sechi, Rosario Vasta, Vincenzo Pierri, Francesca Pili, Ida Pateri, Silvy Pilotto, Tommaso Ercoli, Antonella Muroni, Adriano Chiò, Giovanni Defaz |
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies. Neurology. Genetics 2023 6 9 (4): e200079. John Dou, Kelly Bakulski, Kai Guo, Junguk Hur, Lili Zhao, Sara Saez-Atienzar, Ali Stark, Ruth Chia, Alberto García-Redondo, Ricardo Rojas-Garcia, Juan Francisco Vázquez Costa, Ruben Fernandez Santiago, Sara Bandres-Ciga, Pilar Gómez-Garre, Maria Teresa Periñán, Pablo Mir, Jordi Pérez-Tur, Fernando Cardona, Manuel Menendez-Gonzalez, Javier Riancho, Daniel Borrego-Hernández, Lucia Galán-Dávila, Jon Infante Ceberio, Pau Pastor, Carmen Paradas, Oriol Dols-Icardo, Bryan J Traynor, Eva L Feldman, Stephen A Goutman, |
Cognitive and neuropsychiatric endophenotypes in amyotrophic lateral sclerosis. Brain communications 2023 6 5 (3): fcad166. Emmet Costello, Marie Ryan, Bronagh Donohoe, Caoimhe Kavanagh, Marta Pinto-Grau, Mark Doherty, Russell Lewis McLaughlin, Caroline McHutchison, Sharon Abrahams, Mark Heverin, Orla Hardiman, Niall Pend |
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell genomics 2023 6 3 (6): 100316. Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L Walton, Ryan L Collins, Kimberley Billingsley, Harrison Brand, Michael Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Alvarez Jerez, Laksh Malik, Ted M Dawson, Liana S Rosenthal, Marilyn S Albert, Olga Pletnikova, Juan C Troncoso, Mario Masellis, Julia Keith, Sandra E Black, Luigi Ferrucci, Susan M Resnick, Toshiko Tanaka, , , , , Eric Topol, Ali Torkamani, Pentti Tienari, Tatiana M Foroud, Bernardino Ghetti, John E Landers, Mina Ryten, Huw R Morris, John A Hardy, Letizia Mazzini, Sandra D'Alfonso, Cristina Moglia, Andrea Calvo, Geidy E Serrano, Thomas G Beach, Tanis Ferman, Neill R Graff-Radford, Bradley F Boeve, Zbigniew K Wszolek, Dennis W Dickson, Adriano Chiò, David A Bennett, Philip L De Jager, Owen A Ross, Clifton L Dalgard, J Raphael Gibbs, Bryan J Traynor, Sonja W Scho |
Psychotic Symptoms in Frontotemporal Dementia with TDP-43 tend to be associated with subtype B pathology. Neuropathology and applied neurobiology 2023 6 e12921. Veronica Hirsch-Reinshagen, Christa Hercher, Fidel Vila-Rodriguez, Manuela Neumann, Rosa Rademakers, William G Honer, Ging-Yuek R Hsiung, Ian R Mackenz |
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 6 451 120707. Martin Paucar, José Laffita-Mesa, Valter Niemelä, Helena Malmgren, Inger Nennesmo, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Per Svenningss |
Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort. Journal of the neurological sciences 2023 6 451 120711. Kiran Samra, Amy M MacDougall, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John C van Swieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alex Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Lucy L Russell, |
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 |
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 |
Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. Brain communications 2023 4 5 (2): fcad087. Wiesenfarth Maximilian, Günther Kornelia, Müller Kathrin, Witzel Simon, Weiland Ulrike, Mayer Kristina, Herrmann Christine, Brenner David, Schuster Joachim, Freischmidt Axel, Lulé Dorothée, Meyer Thomas, Regensburger Martin, Grehl Torsten, Emmer Alexander, Petri Susanne, Großkreutz Julian, Rödiger Annekathrin, Steinbach Robert, Klopstock Thomas, Reilich Peter, Schöberl Florian, Wolf Joachim, Hagenacker Tim, Weyen Ute, Zeller Daniel, Ludolph Albert C, Dorst Johann |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity. Frontiers in genetics 2023 3 14 1087098. Kaivola Karri, Pirinen Matti, Laaksovirta Hannu, Jansson Lilja, Rautila Osma, Launes Jyrki, Hokkanen Laura, Lahti Jari, Eriksson Johan G, Strandberg Timo E, FinnGen , Tienari Pentti |
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, |
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients. Scientific reports 2023 2 13 (1): 3187. Manini Arianna, Gagliardi Delia, Meneri Megi, Antognozzi Sara, Del Bo Roberto, Comi Giacomo Pietro, Corti Stefania, Ronchi Dar |
Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis. Frontiers in aging neuroscience 2023 2 15 1067954. Manini Arianna, Casiraghi Valeria, Brusati Alberto, Maranzano Alessio, Gentile Francesco, Colombo Eleonora, Bonetti Ruggero, Peverelli Silvia, Invernizzi Sabrina, Gentilini Davide, Messina Stefano, Verde Federico, Poletti Barbara, Fogh Isabella, Morelli Claudia, Silani Vincenzo, Ratti Antonia, Ticozzi Nico |
The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study. Journal of the neurological sciences 2023 2 446 120590. Jiskoot Lize C, Russell Lucy L, Peakman Georgia, Convery Rhian S, Greaves Caroline V, Bocchetta Martina, Poos Jackie M, Seelaar Harro, Giannini Lucia A A, van Swieten John C, van Minkelen Rick, Pijnenburg Yolande A L, Rowe James B, Borroni Barbara, Galimberti Daniela, Masellis Mario, Tartaglia Carmela, Finger Elizabeth, Butler Chris R, Graff Caroline, Laforce Robert, Sanchez-Valle Raquel, de Mendonça Alexandre, Moreno Fermin, Synofzik Matthis, Vandenberghe Rik, Ducharme Simon, le Ber Isabelle, Levin Johannes, Otto Markus, Pasquier Florence, Santana Isabel, Cash David M, Thomas David, Rohrer Jonathan D, |
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 |
Identifying risk loci for FTD and shared genetic component with ALS: A large-scale multitrait association analysis. Neurobiology of aging 2023 11 134 28-39. Keying Chen, Tongyu Gao, Ying Liu, Kexuan Zhu, Ting Wang, Ping Ze |
Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 10 . Kelly N H Nudelman, Trever Jackson, Malia Rumbaugh, Ani Eloyan, Marco Abreu, Jeffrey L Dage, Casey Snoddy, Kelley M Faber, Tatiana Foroud, Dustin B Hammers, , Alexander Taurone, Maryanne Thangarajah, Paul Aisen, Laurel Beckett, Joel Kramer, Robert Koeppe, Walter A Kukull, Melissa E Murray, Arthur W Toga, Prashanthi Vemuri, Alireza Atri, Gregory S Day, Ranjan Duara, Neill R Graff-Radford, Lawrence S Honig, David T Jones, Joseph C Masdeu, Mario Mendez, Erik Musiek, Chiadi U Onyike, Meghan Riddle, Emily Rogalski, Stephen Salloway, Sharon J Sha, R Scott Turner, Thomas S Wingo, David A Wolk, Maria C Carrillo, Bradford C Dickerson, Gil D Rabinovici, Liana G Apostolova, |
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 |
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 |
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 |
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- Page last updated:Apr 16, 2024
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