The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia by Abramzon, Yevgeniya A, Fratta, Pietro, Traynor, Bryan J, Chia, Ruth

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Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy by Caress, James B., Johnson, Janel O., Abramzon, Yevgeniya A., Hawkins, Gregory A., Gibbs, J. Raphael, Sullivan, Elizabeth A., Chahal, Chamanpreet S., Traynor, Bryan J.

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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis by Noyce, Alastair J., Hemani, Gibran, Mora, Gabriele, Bartolomei, Ilaria, Benigni, Michele, Borghero, Giuseppe, Brunetti, Maura, Calvo, Andrea, Cammarosano, Stefania, Cannas, Antonino, Caponnetto, Claudia, Casale, Federico, Cavallaro, Sebastiano, Chiò, Adriano, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Corrado, Lucia, Costantino, Emanuela, D'Alfonso, Sandra, Femiano, Cinzia, Ferrarese, Carlo, Fini, Nicola, Floris, Gianluca, Grassano, Maurizio, Lattante, Serena, Logroscino, Giancarlo, Loi, Daniela, Mancardi, Gianluigi, Mandich, Paola, Manera, Umberto, Marinou, Kalliopi, Marrali, Giuseppe, Marrosu, Maria Giovanna, Mazzini, Letizia, Melis, Maurizio, Messina, Sonia, Mora, Gabriele, Occhineri, Patrizia, Origone, Paola, Pani, Carla, Petrucci, Antonio, Pirisi, Angelo, Restagno, Gabriella, Ricci, Claudia, Riva, Nilo, Sabatelli, Mario, Santarelli, Marialuisa, Spataro, Rossella, Tanel, Raffaella, Tremolizzo, Lucio, Volanti, Paolo, Zollino, Marcella, Arepalli, Sampath, Bowser, Robert, Broach, James, Camu, William, Chia, Ruth, Chiò, Adriano, Ding, Jinhui, Dunckley, Travis L., Eicher, John D., Faghri, Faraz, Feldman, Eva, Fratta, Pietro, Geiger, Joshua T., Gerhard, Glenn, Hardy, John, Harms, Matthew B., Heiman‐Patterson, Terry D., Kamel, Freya, MacGowan, Daniel J.L., Maragakis, Nicholas J., Murphy, Natalie A., Myllykangas, Liisa, Nalls, Mike A., Nicolas, Aude, Orrell, Richard W., Pamphlett, Roger, Pickering‐Brown, Stuart, Pioro, Erik, Pliner, Hannah A., Pulst, Stefan M., Ravits, John M., Rothstein, Jeffrey D., Salvi, Erika, Sendtner, Michael, Simmons, Zachary, Stone, David C., Sulkava, Raimo, Troncoso, Juan C., Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Tienari, Pentti J., Stone, David J., Nalls, Mike A., Singleton, Andrew B., Traynor, Bryan J.

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Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study by Chia, Ruth, Saez-Atienzar, Sara, Murphy, Natalie, Chiò, Adriano, Blauwendraat, Cornelis, Roda, Ricardo H, Tienari, Pentti J, Kaminski, Henry J, Ricciardi, Roberta, Guida, Melania, De Rosa, Anna, Petrucci, Loredana, Evoli, Amelia, Provenzano, Carlo, Drachman, Daniel B, Traynor, Bryan J

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Investigation of the genetic aetiology of Lewy body diseases with and without dementia by Wu, Lesley Yue, Real, Raquel, Martinez-Carrasco, Alejandro, Chia, Ruth, Lawton, Michael A, Shoai, Maryam, Bresner, Catherine, Blauwendraat, Cornelis, Singleton, Andrew B, Ryten, Mina, Scholz, Sonja W, Traynor, Bryan J, Williams, Nigel M, Hu, Michele T M, Ben-Shlomo, Yoav, Grosset, Donald G, Hardy, John, Morris, Huw R

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Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy by Caress, James B, Johnson, Janel O, Abramzon, Yevgeniya A, Hawkins, Gregory A, Gibbs, J Raphael, Sullivan, Elizabeth A, Chahal, Chamanpreet S, Traynor, Bryan J

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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease by JOHNSON, Janel O, RAPHAEL GIBBS, J, REILLY, Mary M, MUNTONI, Francesco, ABRAMZON, Yevgeniya, HOULDEN, Henry, SINGLETON, Andrew B, MEGARBANE, Andre, ANDONI URTIZBEREA, J, HERNANDEZ, Dena G, REGHAN FOLEY, A, AREPALLI, Sampath, PANDRAUD, Amelie, SIMON-SANCHEZ, Javier, CLAYTON, Peter

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Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis by Abramzon, Yevgeniya, Johnson, Janel O, Scholz, Sonja W, Taylor, J.P, Brunetti, Maura, Calvo, Andrea, Mandrioli, Jessica, Benatar, Michael, Mora, Gabriele, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J

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Genetic analysis of neurodegenerative diseases in a pathology cohort by Blauwendraat, Cornelis, Pletnikova, Olga, Geiger, Joshua T., Murphy, Natalie A., Abramzon, Yevgeniya, Rudow, Gay, Mamais, Adamantios, Sabir, Marya S., Crain, Barbara, Ahmed, Sarah, Rosenthal, Liana S., Bakker, Catherine C., Faghri, Faraz, Chia, Ruth, Ding, Jinhui, Dawson, Ted M., Pantelyat, Alexander, Albert, Marilyn S., Nalls, Mike A., Resnick, Susan M., Ferrucci, Luigi, Cookson, Mark R., Hillis, Argye E., Troncoso, Juan C., Scholz, Sonja W.

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD by Renton, Alan E., Majounie, Elisa, Waite, Adrian, Simón-Sánchez, Javier, Rollinson, Sara, Gibbs, J. Raphael, Schymick, Jennifer C., Laaksovirta, Hannu, van Swieten, John C., Myllykangas, Liisa, Kalimo, Hannu, Paetau, Anders, Abramzon, Yevgeniya, Remes, Anne M., Kaganovich, Alice, Scholz, Sonja W., Duckworth, Jamie, Ding, Jinhui, Harmer, Daniel W., Hernandez, Dena G., Johnson, Janel O., Mok, Kin, Ryten, Mina, Trabzuni, Danyah, Guerreiro, Rita J., Orrell, Richard W., Neal, James, Murray, Alex, Pearson, Justin, Jansen, Iris E., Sondervan, David, Seelaar, Harro, Blake, Derek, Young, Kate, Halliwell, Nicola, Callister, Janis Bennion, Toulson, Greg, Richardson, Anna, Gerhard, Alex, Snowden, Julie, Mann, David, Neary, David, Nalls, Michael A., Peuralinna, Terhi, Jansson, Lilja, Isoviita, Veli-Matti, Kaivorinne, Anna-Lotta, Hölttä-Vuori, Maarit, Ikonen, Elina, Sulkava, Raimo, Benatar, Michael, Wuu, Joanne, Chiò, Adriano, Restagno, Gabriella, Borghero, Giuseppe, Sabatelli, Mario, Heckerman, David, Rogaeva, Ekaterina, Zinman, Lorne, Rothstein, Jeffrey D., Sendtner, Michael, Drepper, Carsten, Eichler, Evan E., Alkan, Can, Abdullaev, Ziedulla, Pack, Svetlana D., Dutra, Amalia, Pak, Evgenia, Hardy, John, Singleton, Andrew, Williams, Nigel M., Heutink, Peter, Pickering-Brown, Stuart, Morris, Huw R., Tienari, Pentti J., Traynor, Bryan J.

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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 by CHIO, Adriano, BORGHERO, Giuseppe, PUGLIATTI, Maura, SOTGIU, Maria Alessandra, MURRU, Maria Rita, MARROSU, Maria Giovanna, MARROSU, Francesco, MARINOU, Kalliopi, MANDRIOLI, Jessica, SOLA, Patrizia, CAPONNETTO, Claudia, MANCARDI, Gianluigi, RESTAGNO, Gabriella, MANDICH, Paola, BELLA, Vincenzo La, SPATARO, Rossella, CONTE, Amelia, MONSURRO, Maria Rosaria, TEDESCHI, Gioacchino, PISANO, Fabrizio, BARTOLOMEI, Ilaria, SALVI, Fabrizio, PINTER, Giuseppe Lauria, MORA, Gabriele, SIMONE, Isabella, LOGROSCINO, Giancarlo, GAMBARDELLA, Antonio, QUATTRONE, Aldo, LUNETTA, Christian, VOLANTI, Paolo, ZOLLINO, Marcella, PENCO, Silvana, BATTISTINI, Stefania, RENTON, Alan E, DREPPER, Carsten, MAJOUNIE, Elisa, ABRAMZON, Yevgeniya, CONFORTI, Francesca Luisa, GIANNINI, Fabio, CORBO, Massimo, SABATELLI, Mario, TRAYNOR, Bryan J, SENDTNER, Michael, BRUNETTI, Maura, OSSOLA, Irene, CALVO, Andrea

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study by Majounie, Elisa, PhD, Renton, Alan E, PhD, Mok, Kin, MSc, Dopper, Elise GP, Waite, Adrian, PhD, Rollinson, Sara, PhD, Chiò, Adriano, MD, Restagno, Gabriella, MD, Nicolaou, Nayia, MSc, Simon-Sanchez, Javier, PhD, van Swieten, John C, Prof, Abramzon, Yevgeniya, Johnson, Janel O, PhD, Sendtner, Michael, Prof, Pamphlett, Roger, MD, Orrell, Richard W, MD, Mead, Simon, MD, Sidle, Katie C, MD, Houlden, Henry, Prof, Rohrer, Jonathan D, MD, Morrison, Karen E, Prof, Pall, Hardev, MD, Talbot, Kevin, Prof, Ansorge, Olaf, MD, Hernandez, Dena G, MSc, Arepalli, Sampath, MS, Sabatelli, Mario, MD, Mora, Gabriele, MD, Corbo, Massimo, MD, Giannini, Fabio, MD, Calvo, Andrea, MD, Englund, Elisabet, MD, Borghero, Giuseppe, MD, Floris, Gian Luca, MD, Remes, Anne M, Prof, Laaksovirta, Hannu, MD, McCluskey, Leo, MD, Trojanowski, John Q, Prof, Van Deerlin, Vivianna M, MD, Schellenberg, Gerard D, Prof, Nalls, Michael A, PhD, Drory, Vivian E, MD, Lu, Chin-Song, Prof, Yeh, Tu-Hsueh, MD, Ishiura, Hiroyuki, MD, Takahashi, Yuji, MD, Tsuji, Shoji, Prof, Le Ber, Isabelle, MD, Brice, Alexis, Prof, Drepper, Carsten, PhD, Williams, Nigel, PhD, Kirby, Janine, PhD, Shaw, Pamela, Prof, Hardy, John, Prof, Tienari, Pentti J, MD, Heutink, Peter, Prof, Morris, Huw R, MD, Pickering-Brown, Stuart, Prof, Traynor, Bryan J, Dr

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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases by Blauwendraat, Cornelis, Faghri, Faraz, Pihlstrom, Lasse, Geiger, Joshua T, Elbaz, Alexis, Lesage, Suzanne, Corvol, Jean-Christophe, May, Patrick, Nicolas, Aude, Abramzon, Yevgeniya, Murphy, Natalie A, Gibbs, J. Raphael, Ryten, Mina, Ferrari, Raffaele, Bras, Jose, Guerreiro, Rita, Williams, Julie, Sims, Rebecca, Lubbe, Steven, Hernandez, Dena G, Mok, Kin Y, Robak, Laurie, Campbell, Roy H, Rogaeva, Ekaterina, Traynor, Bryan J, Chia, Ruth, Chung, Sun Ju, Hardy, John A, Brice, Alexis, Wood, Nicholas W, Houlden, Henry, Shulman, Joshua M, Morris, Huw R, Gasser, Thomas, Krüger, Rejko, Heutink, Peter, Sharma, Manu, Simón-Sánchez, Javier, Nalls, Mike A, Singleton, Andrew B, Scholz, Sonja W

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FUS mutations in sporadic amyotrophic lateral sclerosis by Lai, Shiao-Lin, Abramzon, Yevgeniya, Schymick, Jennifer C, Stephan, Dietrich A, Dunckley, Travis, Dillman, Allissa, Cookson, Mark, Calvo, Andrea, Battistini, Stefania, Giannini, Fabio, Caponnetto, Claudia, Mancardi, Giovanni Luigi, Spataro, Rossella, Monsurro, Maria Rosaria, Tedeschi, Gioacchino, Marinou, Kalliopi, Sabatelli, Mario, Conte, Amelia, Mandrioli, Jessica, Sola, Patrizia, Salvi, Fabrizio, Bartolomei, Ilaria, Lombardo, Federica, Mora, Gabriele, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J

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Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types by Saez-Atienzar, Sara, Bandres-Ciga, Sara, Langston, Rebekah G, Kim, Jonggeol J, Choi, Shing Wan, Reynolds, Regina H, Abramzon, Yevgeniya, Dewan, Ramita, Ahmed, Sarah, Landers, John E, Chia, Ruth, Ryten, Mina, Cookson, Mark R, Nalls, Michael A, Chiò, Adriano, Traynor, Bryan J

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Large C9orf72 repeat expansions are not a common cause of Parkinson's disease by Majounie, Elisa, Abramzon, Yevgeniya, Renton, Alan E, Keller, Margaux F, Traynor, Bryan J, Singleton, Andrew B

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A de novo missense mutation of the FUS gene in a “true” sporadic ALS case by Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Ossola, Irene, Brunetti, Maura, Sbaiz, Luca, Lai, Shiao-lin, Abramzon, Yevgeniya, Traynor, Bryan J, Restagno, Gabriella

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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS by Johnson, Janel O., Mandrioli, Jessica, Benatar, Michael, Abramzon, Yevgeniya, Van Deerlin, Vivianna M., Trojanowski, John Q., Gibbs, J. Raphael, Brunetti, Maura, Gronka, Susan, Wuu, Joanne, Ding, Jinhui, McCluskey, Leo, Martinez-Lage, Maria, Falcone, Dana, Hernandez, Dena G., Arepalli, Sampath, Chong, Sean, Schymick, Jennifer C., Rothstein, Jeffrey, Landi, Francesco, Wang, Yong-Dong, Calvo, Andrea, Mora, Gabriele, Sabatelli, Mario, Monsurrò, Maria Rosaria, Battistini, Stefania, Salvi, Fabrizio, Spataro, Rossella, Sola, Patrizia, Borghero, Giuseppe, Galassi, Giuliana, Scholz, Sonja W., Taylor, J. Paul, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J.

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C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population by Sabatelli, Mario, Conforti, Francesca Luisa, Zollino, Marcella, Mora, Gabriele, Monsurrò, Maria Rosaria, Volanti, Paolo, Marinou, Kalliopi, Salvi, Fabrizio, Corbo, Massimo, Giannini, Fabio, Battistini, Stefania, Penco, Silvana, Lunetta, Christian, Quattrone, Aldo, Gambardella, Antonio, Logroscino, Giancarlo, Simone, Isabella, Bartolomei, Ilaria, Pisano, Fabrizio, Tedeschi, Gioacchino, Conte, Amelia, Spataro, Rossella, La Bella, Vincenzo, Caponnetto, Claudia, Mancardi, Gianluigi, Mandich, Paola, Sola, Patrizia, Mandrioli, Jessica, Renton, Alan E, Majounie, Elisa, Abramzon, Yevgeniya, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Sotgiu, Maria Alessandra, Pugliatti, Maura, Rodolico, Carmelo, Moglia, Cristina, Calvo, Andrea, Ossola, Irene, Brunetti, Maura, Traynor, Bryan J, Borghero, Giuseppe, Restagno, Gabriella, Chiò, Adriano

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HLA in isolated REM sleep behavior disorder and Lewy body dementia by Yu, Eric, Krohn, Lynne, Ruskey, Jennifer A, Asayesh, Farnaz, Spiegelman, Dan, Shah, Zalak, Chia, Ruth, Arnulf, Isabelle, Hu, Michele T M, Montplaisir, Jacques Y, Gagnon, Jean-François, Desautels, Alex, Dauvilliers, Yves, Gigli, Gian Luigi, Valente, Mariarosaria, Janes, Francesco, Bernardini, Andrea, Högl, Birgit, Stefani, Ambra, Ibrahim, Abubaker, Heidbreder, Anna, Sonka, Karel, Dusek, Petr, Kemlink, David, Oertel, Wolfgang, Janzen, Annette, Plazzi, Giuseppe, Antelmi, Elena, Figorilli, Michela, Puligheddu, Monica, Mollenhauer, Brit, Trenkwalder, Claudia, Sixel-Döring, Friederike, Cochen De Cock, Valérie, Ferini-Strambi, Luigi, Dijkstra, Femke, Viaene, Mineke, Abril, Beatriz, Boeve, Bradley F, Rouleau, Guy A, Postuma, Ronald B, Scholz, Sonja W, Gan-Or, Ziv

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