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Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
Teyssou, Elisa, Takeda, Takahiro, Lebon, Vincent, Boillée, Séverine, Doukouré, Brahima, Bataillon, Guillaume, Sazdovitch, Véronique, Cazeneuve, Cécile, Meininger, Vincent, LeGuern, Eric, Salachas, François, Seilhean, Danielle, Millecamps, Stéphanie
Published in Acta neuropathologica (01.04.2013)
Published in Acta neuropathologica (01.04.2013)
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Journal Article
Large-scale differentiation of iPSC-derived motor neurons from ALS and control subjects
Workman, Michael J., Lim, Ryan G., Wu, Jie, Frank, Aaron, Ornelas, Loren, Panther, Lindsay, Galvez, Erick, Perez, Daniel, Meepe, Imara, Lei, Susan, Valencia, Viviana, Gomez, Emilda, Liu, Chunyan, Moran, Ruby, Pinedo, Louis, Tsitkov, Stanislav, Ho, Ritchie, Kaye, Julia A., Thompson, Terri, Rothstein, Jeffrey D., Finkbeiner, Steven, Fraenkel, Ernest, Sareen, Dhruv, Thompson, Leslie M., Svendsen, Clive N.
Published in Neuron (Cambridge, Mass.) (19.04.2023)
Published in Neuron (Cambridge, Mass.) (19.04.2023)
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Journal Article
Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
Kmetzsch, Virgilio, Anquetil, Vincent, Saracino, Dario, Rinaldi, Daisy, Camuzat, Agnès, Gareau, Thomas, Jornea, Ludmila, Forlani, Sylvie, Couratier, Philippe, Wallon, David, Pasquier, Florence, Robil, Noémie, de la Grange, Pierre, Moszer, Ivan, Le Ber, Isabelle, Colliot, Olivier, Becker, Emmanuelle
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2021)
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Journal Article
MIF and D-DT are potential disease severity modifiers in male MS subjects
Benedek, Gil, Meza-Romero, Roberto, Jordan, Kelley, Zhang, Ying, Nguyen, Ha, Kent, Gail, Li, Jia, Siu, Edwin, Frazer, Jenny, Piecychna, Marta, Du, Xin, Sreih, Antoine, Leng, Lin, Wiedrick, Jack, Caillier, Stacy J., Offner, Halina, Oksenberg, Jorge R., Yadav, Vijayshree, Bourdette, Dennis, Bucala, Richard, Vandenbark, Arthur A.
Published in Proceedings of the National Academy of Sciences - PNAS (03.10.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (03.10.2017)
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Journal Article
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
Patsopoulos, Nikolaos A., Baranzini, Sergio E., Santaniello, Adam, Shoostari, Parisa, Cotsapas, Chris, Wong, Garrett, Beecham, Ashley H., James, Tojo, Replogle, Joseph, Vlachos, Ioannis S., McCabe, Cristin, Pers, Tune H., Brandes, Aaron, White, Charles, Keenan, Brendan, Cimpean, Maria, Winn, Phoebe, Panteliadis, Ioannis-Pavlos, Robbins, Allison, Andlauer, Till F. M., Zarzycki, Onigiusz, Dubois, Bénédicte, Goris, An, Søndergaard, Helle Bach, Sellebjerg, Finn, Sorensen, Per Soelberg, Ullum, Henrik, Thørner, Lise Wegner, Saarela, Janna, Cournu-Rebeix, Isabelle, Damotte, Vincent, Fontaine, Bertrand, Guillot-Noel, Lena, Lathrop, Mark, Vukusic, Sandra, Berthele, Achim, Pongratz, Viola, Buck, Dorothea, Gasperi, Christiane, Graetz, Christiane, Grummel, Verena, Hemmer, Bernhard, Hoshi, Muni, Knier, Benjamin, Korn, Thomas, Lill, Christina M., Luessi, Felix, Mühlau, Mark, Zipp, Frauke, Dardiotis, Efthimios, Agliardi, Cristina, Amoroso, Antonio, Barizzone, Nadia, Benedetti, Maria D., Bernardinelli, Luisa, Cavalla, Paola, Clarelli, Ferdinando, Comi, Giancarlo, Cusi, Daniele, Esposito, Federica, Ferrè, Laura, Galimberti, Daniela, Guaschino, Clara, Leone, Maurizio A., Martinelli, Vittorio, Moiola, Lucia, Salvetti, Marco, Sorosina, Melissa, Vecchio, Domizia, Zauli, Andrea, Santoro, Silvia, Mancini, Nicasio, Zuccalà, Miriam, Mescheriakova, Julia, van Duijn, Cornelia, Bos, Steffan D., Celius, Elisabeth G., Spurkland, Anne, Comabella, Manuel, Montalban, Xavier, Alfredsson, Lars, Bomfim, Izaura L., Gomez-Cabrero, David, Hillert, Jan, Jagodic, Maja, Lindén, Magdalena, Piehl, Fredrik, Jelčić, Ilijas, Martin, Roland, Sospedra, Mirela, Baker, Amie, Ban, Maria, Hawkins, Clive, Hysi, Pirro, Kalra, Seema, Karpe, Fredrik, Khadake, Jyoti, Lachance, Genevieve, Molyneux, Paul, Neville, Matthew
Published in Science (American Association for the Advancement of Science) (27.09.2019)
Published in Science (American Association for the Advancement of Science) (27.09.2019)
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Journal Article
A pathogenic and clonally expanded B cell transcriptome in active multiple sclerosis
Ramesh, Akshaya, Schubert, Ryan D., Greenfield, Ariele L., Dandekar, Ravi, Loudermilk, Rita, Sabatino, Joseph J., Koelzer, Matthew T., Tran, Edwina B., Koshal, Kanishka, Kim, Kicheol, Pröbstel, Anne-Katrin, Banerji, Debarko, Guo, Chu-Yueh, Green, Ari J., Bove, Riley M., DeRisi, Joseph L., Gelfand, Jeffrey M., Cree, Bruce A. C., Zamvil, Scott S., Baranzini, Sergio E., Hauser, Stephen L., Wilson, Michael R.
Published in Proceedings of the National Academy of Sciences - PNAS (15.09.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (15.09.2020)
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Journal Article
Cerebrospinal Fluid and Peripheral Blood Lymphomonocyte Single-Cell Transcriptomics in a Subject with Multiple Sclerosis Acutely Infected with HIV
Pinnetti, Carmela, Rozera, Gabriella, Messina, Francesco, Spezia, Pietro Giorgio, Lazzari, Elisabetta, Fabeni, Lavinia, Chillemi, Giovanni, Pietrucci, Daniele, Haggiag, Shalom, Mastrorosa, Ilaria, Vergori, Alessandra, Girardi, Enrico, Antinori, Andrea, Maggi, Fabrizio, Abbate, Isabella
Published in International journal of molecular sciences (01.10.2024)
Published in International journal of molecular sciences (01.10.2024)
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Journal Article
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Beecham, Ashley H, Patsopoulos, Nikolaos A, Xifara, Dionysia K, Davis, Mary F, Kemppinen, Anu, Cotsapas, Chris, Shah, Tejas S, Spencer, Chris, Booth, David, Goris, An, Oturai, Annette, Saarela, Janna, Fontaine, Bertrand, Hemmer, Bernhard, Martin, Claes, Zipp, Frauke, D'Alfonso, Sandra, Martinelli-Boneschi, Filippo, Taylor, Bruce, Harbo, Hanne F, Kockum, Ingrid, Hillert, Jan, Olsson, Tomas, Ban, Maria, Oksenberg, Jorge R, Hintzen, Rogier, Barcellos, Lisa F, Agliardi, Cristina, Alfredsson, Lars, Alizadeh, Mehdi, Anderson, Carl, Andrews, Robert, Søndergaard, Helle Bach, Baker, Amie, Band, Gavin, Baranzini, Sergio E, Barizzone, Nadia, Barrett, Jeffrey, Bellenguez, Céline, Bergamaschi, Laura, Bernardinelli, Luisa, Berthele, Achim, Biberacher, Viola, Binder, Thomas M C, Blackburn, Hannah, Bomfim, Izaura L, Brambilla, Paola, Broadley, Simon, Brochet, Bruno, Brundin, Lou, Buck, Dorothea, Butzkueven, Helmut, Caillier, Stacy J, Camu, William, Carpentier, Wassila, Cavalla, Paola, Celius, Elisabeth G, Coman, Irène, Comi, Giancarlo, Corrado, Lucia, Cosemans, Leentje, Cournu-Rebeix, Isabelle, Cree, Bruce A C, Cusi, Daniele, Damotte, Vincent, Defer, Gilles, Delgado, Silvia R, Deloukas, Panos, di Sapio, Alessia, Dilthey, Alexander T, Donnelly, Peter, Dubois, Bénédicte, Duddy, Martin, Edkins, Sarah, Elovaara, Irina, Esposito, Federica, Evangelou, Nikos, Fiddes, Barnaby, Field, Judith, Franke, Andre, Freeman, Colin, Frohlich, Irene Y, Galimberti, Daniela, Gieger, Christian, Gourraud, Pierre-Antoine, Graetz, Christiane, Graham, Andrew, Grummel, Verena, Guaschino, Clara, Hadjixenofontos, Athena, Hakonarson, Hakon, Halfpenny, Christopher, Hall, Gillian, Hall, Per, Hamsten, Anders, Harley, James, Harrower, Timothy, Hawkins, Clive, Hellenthal, Garrett, Hillier, Charles
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Journal Article
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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Journal Article
Web Resource
Changes in Cerebrospinal Fluid Concentrations of Selenium Species Induced by Tofersen Administration in Subjects with Amyotrophic Lateral Sclerosis Carrying SOD1 Gene Mutations: Changes in Cerebrospinal Fluid Concentrations of Selenium Species Induced by Tofersen Administration in Subjects with Amyotrophic Lateral Sclerosis Carrying SOD1 Gene Mutations
Vinceti, Marco, Urbano, Teresa, Filippini, Tommaso, Bedin, Roberta, Simonini, Cecilia, Sorarù, Gianni, Trojsi, Francesca, Michalke, Bernhard, Mandrioli, Jessica
Published in Biological trace element research (01.04.2025)
Published in Biological trace element research (01.04.2025)
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Journal Article
Advantages and pitfalls in the application of mixed-model association methods
Yang, Jian, Zaitlen, Noah A, Goddard, Michael E, Visscher, Peter M, Price, Alkes L
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Journal Article
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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Journal Article
Hot-spot KIF5A mutations cause familial ALS
Brenner, David, Yilmaz, Rüstem, Müller, Kathrin, Grehl, Torsten, Petri, Susanne, Meyer, Thomas, Grosskreutz, Julian, Weydt, Patrick, Ruf, Wolfgang, Neuwirth, Christoph, Weber, Markus, Pinto, Susana, Claeys, Kristl G, Schrank, Berthold, Jordan, Berit, Knehr, Antje, Günther, Kornelia, Hübers, Annemarie, Zeller, Daniel, Kubisch, Christian, Jablonka, Sibylle, Sendtner, Michael, Klopstock, Thomas, de Carvalho, Mamede, Sperfeld, Anne, Borck, Guntram, Volk, Alexander E, Dorst, Johannes, Weis, Joachim, Otto, Markus, Schuster, Joachim, Del Tredici, Kelly, Braak, Heiko, Danzer, Karin M, Freischmidt, Axel, Meitinger, Thomas, Strom, Tim M, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H
Published in Brain (London, England : 1878) (01.03.2018)
Published in Brain (London, England : 1878) (01.03.2018)
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Journal Article
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
Cady, Janet, Allred, Peggy, Bali, Taha, Pestronk, Alan, Goate, Alison, Miller, Timothy M., Mitra, Robi D., Ravits, John, Harms, Matthew B., Baloh, Robert H.
Published in Annals of neurology (01.01.2015)
Published in Annals of neurology (01.01.2015)
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Journal Article
Dynamics of oligodendrocyte generation in multiple sclerosis
Yeung, Maggie S. Y., Djelloul, Mehdi, Steiner, Embla, Bernard, Samuel, Salehpour, Mehran, Possnert, Göran, Brundin, Lou, Frisén, Jonas
Published in Nature (London) (01.02.2019)
Published in Nature (London) (01.02.2019)
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Journal Article
Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study
Querin, Giorgia, Bede, Peter, El Mendili, Mohamed Mounir, Li, Menghan, Pélégrini‐Issac, Mélanie, Rinaldi, Daisy, Catala, Martin, Saracino, Dario, Salachas, François, Camuzat, Agnes, Marchand‐Pauvert, Véronique, Cohen‐Adad, Julien, Colliot, Olivier, Le Ber, Isabelle, Pradat, Pierre‐François
Published in Annals of neurology (01.08.2019)
Published in Annals of neurology (01.08.2019)
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Journal Article
Deficits in verbal fluency in presymptomatic C9orf72 mutation gene carriers—a developmental disorder
Lulé, Dorothée E, Müller, Hans-Peter, Finsel, Julia, Weydt, Patrick, Knehr, Antje, Winroth, Ivar, Andersen, Peter, Weishaupt, Jochen, Uttner, Ingo, Kassubek, Jan, Ludolph, Albert C
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2020)
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Journal Article
Systematic review and meta-analysis on microRNAs in amyotrophic lateral sclerosis
Liu, Hua, Lan, Shan, Shi, Xiao-Jie, Fan, Fang-Cheng, Liu, Qing-Shan, Cong, Lin, Cheng, Yong
Published in Brain research bulletin (01.03.2023)
Published in Brain research bulletin (01.03.2023)
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Journal Article
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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