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Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
Almeida, Sandra, Gascon, Eduardo, Tran, Hélène, Chou, Hsin Jung, Gendron, Tania F., DeGroot, Steven, Tapper, Andrew R., Sellier, Chantal, Charlet-Berguerand, Nicolas, Karydas, Anna, Seeley, William W., Boxer, Adam L., Petrucelli, Leonard, Miller, Bruce L., Gao, Fen-Biao
Published in Acta neuropathologica (01.09.2013)
Published in Acta neuropathologica (01.09.2013)
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TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
Yeetong, Patra, Pongpanich, Monnat, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Shotelersuk, Varote, Tantirukdham, Nithiphut, Chunharas, Chaipat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
Waite, Adrian J., Bäumer, Dirk, East, Simon, Neal, James, Morris, Huw R., Ansorge, Olaf, Blake, Derek J.
Published in Neurobiology of aging (01.07.2014)
Published in Neurobiology of aging (01.07.2014)
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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Dewan, Ramita, Keagle, Pamela, Bacikova, Dagmar, Soltis, Anthony R., Kost, Jason, Colombrita, Claudia, Lewis, Elizabeth A., Pensato, Viviana, Castellotti, Barbara, McLaughlin, Russell L., Comi, Giacomo P., Ceroni, Mauro, Gagliardi, Stella, van Blitterswijk, Marka, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Morrison, Karen E., Veldink, Jan H., Brown, Robert H., Ambrose, John C., Brittain, H., Elgar, Greg, Halai, Dina, Holman, James E., Jackson, Rob, Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Riesgo-Ferreiro, Pablo, Rogers, Tim, Watters, Sarah A., Arepalli, Sampath, Chiò, Adriano, Dunckley, Travis L., Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Gerhard, Glenn, Jansson, Lilja, Kirby, Janine, Mora, Gabriele, Nalls, Mike A., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Khoshnood, Behzad, Sorbi, Sandro, Pastor, Pau, Bigio, Eileen H., Black, Sandra E., Brunetti, Maura, Canosa, Antonio, Gan-Or, Ziv, Goate, Alison, Hupalo, Daniel, Infante, Jon, Kaufmann, Horacio, Kim, Ronald C., Krüger, Rejko, Logroscino, Giancarlo, Love, Seth, Mao, Qinwen, Masliah, Eliezer, Pletnikova, Olga, Reynolds, Regina H., Scherzer, Clemens R., Serrano, Geidy E., Xiromerisiou, Georgia, Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Malaspina, Andrea, Thompson, Leslie M., Dardiotis, Efthimios, Chandran, Siddharthan, Butovsky, Oleg, Dubnau, Joshua, Harms, Matt, Poss, Mary, Phillips-Cremins, Jennifer, Altschuler, Steven, Hu, Michele T.M., Leigh, P. Nigel, Massey, Luke A., Pavese, Nicola, Vaughan, Jenny, Rowe, James B., Ghidoni, Roberta, Ryten, Mina, Tanaka, Toshiko, Ferrucci, Luigi, Vonsattel, Jean Paul, Landers, John E.
Published in Neuron (Cambridge, Mass.) (03.02.2021)
Published in Neuron (Cambridge, Mass.) (03.02.2021)
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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Gendron, Tania F., Bieniek, Kevin F., Zhang, Yong-Jie, Jansen-West, Karen, Ash, Peter E. A., Caulfield, Thomas, Daughrity, Lillian, Dunmore, Judith H., Castanedes-Casey, Monica, Chew, Jeannie, Cosio, Danielle M., van Blitterswijk, Marka, Lee, Wing C., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard
Published in Acta neuropathologica (01.12.2013)
Published in Acta neuropathologica (01.12.2013)
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Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene
Ruotolo, G., D’Anzi, A., Giovenale, A.M.G., Giacometti, C., Ferrari, D., Vulcano, E., D’Asdia, C., Lattante, S., Sabatelli, M., Codazzi, F., Consalez, G., Marano, M., Di Lazzaro, V., Pennuto, M., Vescovi, A., Rosati, J.
Published in Stem cell research (01.12.2024)
Published in Stem cell research (01.12.2024)
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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
Hensman Moss, Davina J, Poulter, Mark, Beck, Jon, Hehir, Jason, Polke, James M, Campbell, Tracy, Adamson, Garry, Mudanohwo, Ese, McColgan, Peter, Haworth, Andrea, Wild, Edward J, Sweeney, Mary G, Houlden, Henry, Mead, Simon, Tabrizi, Sarah J
Published in Neurology (28.01.2014)
Published in Neurology (28.01.2014)
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Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
Cooper-Knock, Johnathan, Walsh, Matthew J., Higginbottom, Adrian, Robin Highley, J., Dickman, Mark J., Edbauer, Dieter, Ince, Paul G., Wharton, Stephen B., Wilson, Stuart A., Kirby, Janine, Hautbergue, Guillaume M., Shaw, Pamela J.
Published in Brain (London, England : 1878) (01.07.2014)
Published in Brain (London, England : 1878) (01.07.2014)
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Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
Boeve, Bradley F., Boylan, Kevin B., Graff-Radford, Neill R., DeJesus-Hernandez, Mariely, Knopman, David S., Pedraza, Otto, Vemuri, Prashanthi, Jones, David, Lowe, Val, Murray, Melissa E., Dickson, Dennis W., Josephs, Keith A., Rush, Beth K., Machulda, Mary M., Fields, Julie A., Ferman, Tanis J., Baker, Matthew, Rutherford, Nicola J., Adamson, Jennifer, Wszolek, Zbigniew K., Adeli, Anahita, Savica, Rodolfo, Boot, Brendon, Kuntz, Karen M., Gavrilova, Ralitza, Reeves, Andrew, Whitwell, Jennifer, Kantarci, Kejal, Jack, Clifford R., Parisi, Joseph E., Lucas, John A., Petersen, Ronald C., Rademakers, Rosa
Published in Brain (London, England : 1878) (01.03.2012)
Published in Brain (London, England : 1878) (01.03.2012)
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Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers
Le Blanc, Gabriella, Jetté Pomerleau, Vincent, McCarthy, Jillian, Borroni, Barbara, Swieten, John, Galimberti, Daniela, Sanchez‐Valle, Raquel, LaForce, Robert, Moreno, Fermin, Synofzik, Matthis, Graff, Caroline, Masellis, Mario, Tartaglia, Maria C., Rowe, James B., Vandenberghe, Rik, Finger, Elizabeth, Tagliavini, Fabrizio, Mendonça, Alexandre, Santana, Isabel, Butler, Chris, Gerhard, Alex, Danek, Adrian, Levin, Johannes, Otto, Markus, Frisoni, Giovanni, Sorbi, Sandro, Rohrer, Jonathan D., Ducharme, Simon
Published in Annals of neurology (01.07.2020)
Published in Annals of neurology (01.07.2020)
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A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy
Wieben, Eric D., Aleff, Ross A., Tosakulwong, Nirubol, Butz, Malinda L., Highsmith, W. Edward, Edwards, Albert O., Baratz, Keith H.
Published in PloS one (21.11.2012)
Published in PloS one (21.11.2012)
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The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK
Rautila, Osma S., Kaivola, Karri, Rautila, Harri, Hokkanen, Laura, Launes, Jyrki, Strandberg, Timo E., Laaksovirta, Hannu, Palmio, Johanna, Tienari, Pentti J.
Published in American journal of human genetics (01.02.2024)
Published in American journal of human genetics (01.02.2024)
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The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10
Hasan, Ali, Furtado, Gabriel Vasata, Miglorini, Elaine, Mergener, Rafaella, Massuyama, Breno, Barsottini, Orlando, Pedroso, José Luiz, Teive, Helio G., Saraiva-Pereira, Maria Luiza, Ashizawa, Tetsuo, Jardim, Laura Bannach
Published in Journal of neurology (01.04.2025)
Published in Journal of neurology (01.04.2025)
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Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers
Walhout, Renée, Schmidt, Ruben, Westeneng, Henk-Jan, Verstraete, Esther, Seelen, Meinie, van Rheenen, Wouter, de Reus, Marcel A, van Es, Michael A, Hendrikse, Jeroen, Veldink, Jan H, van den Heuvel, Martijn P, van den Berg, Leonard H
Published in Neurology (17.11.2015)
Published in Neurology (17.11.2015)
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Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers
van Blitterswijk, Marka, Mullen, Bianca, Heckman, Michael G., Baker, Matthew C., DeJesus-Hernandez, Mariely, Brown, Patricia H., Murray, Melissa E., Hsiung, Ging-Yuek R., Stewart, Heather, Karydas, Anna M., Finger, Elizabeth, Kertesz, Andrew, Bigio, Eileen H., Weintraub, Sandra, Mesulam, Marsel, Hatanpaa, Kimmo J., White, Charles L., Neumann, Manuela, Strong, Michael J., Beach, Thomas G., Wszolek, Zbigniew K., Lippa, Carol, Caselli, Richard, Petrucelli, Leonard, Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Mackenzie, Ian R., Seeley, William W., Grinberg, Lea T., Miller, Bruce L., Boylan, Kevin B., Graff-Radford, Neill R., Boeve, Bradley F., Dickson, Dennis W., Rademakers, Rosa
Published in Neurobiology of aging (01.10.2014)
Published in Neurobiology of aging (01.10.2014)
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Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
Udine, Evan, DeJesus-Hernandez, Mariely, Tian, Shulan, das Neves, Sofia Pereira, Crook, Richard, Finch, NiCole A., Baker, Matthew C., Pottier, Cyril, Graff-Radford, Neill R., Boeve, Bradley F., Petersen, Ronald C., Knopman, David S., Josephs, Keith A., Oskarsson, Björn, Da Mesquita, Sandro, Petrucelli, Leonard, Gendron, Tania F., Dickson, Dennis W., Rademakers, Rosa, van Blitterswijk, Marka
Published in Acta neuropathologica (01.06.2024)
Published in Acta neuropathologica (01.06.2024)
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C9ORF72 repeat expansions not detected in a group of patients with schizophrenia
Huey, Edward D., Nagy, Peter L., Rodriguez-Murillo, Laura, Manoochehri, Masood, Goldman, Jill, Lieberman, Jeffrey, Karayiorgou, Maria, Mayeux, Richard
Published in Neurobiology of aging (01.04.2013)
Published in Neurobiology of aging (01.04.2013)
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Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation
Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Villa, Chiara, Bonsi, Rossana, Arighi, Andrea, Fumagalli, Giorgio G., Del Bo, Roberto, Bruni, Amalia C., Anfossi, Maria, Clodomiro, Alessandra, Cupidi, Chiara, Nacmias, Benedetta, Sorbi, Sandro, Piaceri, Irene, Bagnoli, Silvia, Bessi, Valentina, Marcone, Alessandra, Cerami, Chiara, Cappa, Stefano F., Filippi, Massimo, Agosta, Federica, Magnani, Giuseppe, Comi, Giancarlo, Franceschi, Massimo, Rainero, Innocenzo, Giordana, Maria Teresa, Rubino, Elisa, Ferrero, Patrizia, Rogaeva, Ekaterina, Xi, Zhengrui, Confaloni, Annamaria, Piscopo, Paola, Bruno, Giuseppe, Talarico, Giuseppina, Cagnin, Annachiara, Clerici, Francesca, Dell’Osso, Bernardo, Comi, Giacomo P., Altamura, A. Carlo, Mariani, Claudio, Scarpini, Elio
Published in Biological psychiatry (1969) (01.09.2013)
Published in Biological psychiatry (1969) (01.09.2013)
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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease
Harms, Matthew, Benitez, Bruno A, Cairns, Nigel, Cooper, Breanna, Cooper, Paul, Mayo, Kevin, Carrell, David, Faber, Kelley, Williamson, Jennifer, Bird, Tom, Diaz-Arrastia, Ramon, Foroud, Tatiana M, Boeve, Bradley F, Graff-Radford, Neill R, Mayeux, Richard, Chakraverty, Sumitra, Goate, Alison M, Cruchaga, Carlos
Published in JAMA neurology (01.06.2013)
Published in JAMA neurology (01.06.2013)
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