Large C9orf72 repeat expansions are not a common cause of Parkinson’s disease

Por Majounie, Elisa, Abramzon, Yevgeniya, Renton, Alan E., Keller, Margaux F., Traynor, Bryan J., Singleton, Andrew B.
Publicado no Neurobiol Aging (2012)

A de novo missense mutation of the FUS gene in a ‘true’ sporadic ALS case

Por Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Ossola, Irene, Brunetti, Maura, Sbaiz, Luca, Lai, Shiao-lin, Abramzon, Yevgeniya, Traynor, Bryan J., Restagno, Gabriella
Publicado em 2010

Repeat Expansion in C9ORF72 in Alzheimer’s Disease

Por Majounie, Elisa, Abramzon, Yevgeniya, Renton, Alan E., Perry, Rodney, Bassett, Susan S., Pletnikova, Olga, Troncoso, Juan C., Hardy, John, Singleton, Andrew B., Traynor, Bryan J.
Publicado em 2012

Valosin-containing protein mutations in sporadic amyotrophic lateral sclerosis

Por Abramzon, Yevgeniya, Johnson, Janel O., Scholz, Sonja W., Taylor, J. Paul, Brunetti, Maura, Calvo, Andrea, Mandrioli, Jessica, Benatar, Michael, Mora, Gabriele, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J.
Publicado em 2012

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Por Johnson, Janel O., Gibbs, J. Raphael, Megarbane, Andre, Urtizberea, J. Andoni, Hernandez, Dena G., Foley, A. Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M., Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B.
Publicado em 2012

Large proportion of amyotrophic lateral sclerosis cases in Sardinia are due to a single founder mutation of the TARDBP gene

Por Chiò, Adriano, Borghero, Giuseppe, Pugliatti, Maura, Ticca, Anna, Calvo, Andrea, Moglia, Cristina, Mutani, Roberto, Brunetti, Maura, Ossola, Irene, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Cossu, Paola, Abramzon, Yevgeniya, Johnson, Janel O., Nalls, Michael A., Arepalli, Sampath, Chong, Sean, Hernandez, Dena G., Traynor, Bryan J., Restagno, Gabriella
Publicado em 2011

FUS mutations in sporadic amyotrophic lateral sclerosis

Por 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.
Publicado em 2010

Exome sequencing reveals VCP mutations as a cause of familial ALS

Por 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, Michael, 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.
Publicado em 2010

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

Por Chiò, Adriano, Borghero, Giuseppe, Restagno, Gabriella, Mora, Gabriele, Drepper, Carsten, Traynor, Bryan J., Sendtner, Michael, Brunetti, Maura, Ossola, Irene, Calvo, Andrea, Pugliatti, Maura, Sotgiu, Maria Alessandra, Murru, Maria Rita, Marrosu, Maria Giovanna, Marrosu, Francesco, Marinou, Kalliopi, Mandrioli, Jessica, Sola, Patrizia, Caponnetto, Claudia, Mancardi, Gianluigi, Mandich, Paola, La Bella, Vincenzo, Spataro, Rossella, Conte, Amelia, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Pisano, Fabrizio, Bartolomei, Ilaria, Salvi, Fabrizio, Lauria Pinter, Giuseppe, Simone, Isabella, Logroscino, Giancarlo, Gambardella, Antonio, Quattrone, Aldo, Lunetta, Christian, Volanti, Paolo, Zollino, Marcella, Penco, Silvana, Battistini, Stefania, Renton, Alan E., Majounie, Elisa, Abramzon, Yevgeniya, Conforti, Francesca Luisa, Giannini, Fabio, Corbo, Massimo, Sabatelli, Mario
Publicado em 2012

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

Por 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
Publicado em 2012

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Por Johnson, Janel O., Pioro, Erik P., Boehringer, Ashley, Chia, Ruth, Feit, Howard, Renton, Alan E., Pliner, Hannah A., Abramzon, Yevgeniya, Marangi, Giuseppe, Winborn, Brett J., Gibbs, J Raphael, Nalls, Michael A., Morgan, Sarah, Shoai, Maryam, Hardy, John, Pittman, Alan, Orrell, Richard W., Malaspina, Andrea, Sidle, Katie C., Fratta, Pietro, Harms, Matthew B., Baloh, Robert H., Pestronk, Alan, Weihl, Conrad C., Rogaeva, Ekaterina, Zinman, Lorne, Drory, Vivian E., Borghero, Giuseppe, Mora, Gabriele, Calvo, Andrea, Rothstein, Jeffrey D., Drepper, Carsten, Sendtner, Michael, Singleton, Andrew B., Taylor, J. Paul, Cookson, Mark R., Restagno, Gabriella, Sabatelli, Mario, Bowser, Robert, Chiò, Adriano, Traynor, Bryan J.
Publicado em 2014

A Genome-wide Association Study of Myasthenia Gravis

Por Renton, Alan E., Pliner, Hannah A., Provenzano, Carlo, Evoli, Amelia, Ricciardi, Roberta, Nalls, Michael A., Marangi, Giuseppe, Abramzon, Yevgeniya, Arepalli, Sampath, Chong, Sean, Hernandez, Dena G., Johnson, Janel O., Bartoccioni, Emanuela, Scuderi, Flavia, Maestri, Michelangelo, Raphael Gibbs, J., Errichiello, Edoardo, Chiò, Adriano, Restagno, Gabriella, Sabatelli, Mario, Macek, Mark, Scholz, Sonja W., Corse, Andrea, Chaudhry, Vinay, Benatar, Michael, Barohn, Richard J., McVey, April, Pasnoor, Mamatha, Dimachkie, Mazen M., Rowin, Julie, Kissel, John, Freimer, Miriam, Kaminski, Henry J., Sanders, Donald B., Lipscomb, Bernadette, Massey, Janice M., Chopra, Manisha, Howard, James F., Koopman, Wilma J., Nicolle, Michael W., Pascuzzi, Robert M., Pestronk, Alan, Wulf, Charlie, Florence, Julaine, Blackmore, Derrick, Soloway, Aimee, Siddiqi, Zaeem, Muppidi, Srikanth, Wolfe, Gil, Richman, David, Mezei, Michelle M., Jiwa, Theresa, Oger, Joel, Drachman, Daniel B., Traynor, Bryan J.
Publicado no JAMA Neurol (2015)

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Por Majounie, Elisa, Renton, Alan E, Mok, Kin, Dopper, Elise GP, Waite, Adrian, Rollinson, Sara, Chiò, Adriano, Restagno, Gabriella, Nicolaou, Nayia, Simon-Sanchez, Javier, van Swieten, John C, Abramzon, Yevgeniya, Johnson, Janel O, Sendtner, Michael, Pamphlett, Roger, Orrell, Richard W, Mead, Simon, Sidle, Katie C, Houlden, Henry, Rohrer, Jonathan D, Morrison, Karen E, Pall, Hardev, Talbot, Kevin, Ansorge, Olaf, Hernandez, Dena G, Arepalli, Sampath, Sabatelli, Mario, Mora, Gabriele, Corbo, Massimo, Giannini, Fabio, Calvo, Andrea, Englund, Elisabet, Borghero, Giuseppe, Floris, Gian Luca, Remes, Anne M, Laaksovirta, Hannu, McCluskey, Leo, Trojanowski, John Q, Van Deerlin, Vivianna M, Schellenberg, Gerard D, Nalls, Michael A, Drory, Vivian E, Lu, Chin-Song, Yeh, Tu-Hsueh, Ishiura, Hiroyuki, Takahashi, Yuji, Tsuji, Shoji, Le Ber, Isabelle, Brice, Alexis, Drepper, Carsten, Williams, Nigel, Kirby, Janine, Shaw, Pamela, Hardy, John, Tienari, Pentti J, Heutink, Peter, Morris, Huw R, Pickering-Brown, Stuart, Traynor, Bryan J
Publicado em 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Por 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, 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, Sendtner, Michael, Drepper, Carsten, Eichler, Evan E., Alkan, Can, Abdullaev, Zied, 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.
Publicado em 2011