Rare Variants in the TREX1 Gene and Susceptibility to Autoimmune Diseases

by Barizzone, Nadia, Monti, Sara, Mellone, Simona, Godi, Michela, Marchini, Maurizio, Scorza, Raffaella, Danieli, Maria G., D'Alfonso, Sandra
Published 2013

Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report

by Gramaglia, Carla, Cantello, Roberto, Terazzi, Emanuela, Carecchio, Miryam, D’Alfonso, Sandra, Chieppa, Nunzia, Ressico, Francesca, Rizza, Maria Cristina, Zeppegno, Patrizia
Published 2014

Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering

by Anand, Santosh, Mangano, Eleonora, Barizzone, Nadia, Bordoni, Roberta, Sorosina, Melissa, Clarelli, Ferdinando, Corrado, Lucia, Martinelli Boneschi, Filippo, D’Alfonso, Sandra, De Bellis, Gianluca
Published 2016

Multiple Polymorphisms Affect Expression and Function of the Neuropeptide S Receptor (NPSR1)

by Anedda, Francesca, Zucchelli, Marco, Schepis, Danika, Hellquist, Anna, Corrado, Lucia, D'Alfonso, Sandra, Achour, Adnane, McInerney, Gerald, Bertorello, Alejandro, Lördal, Mikael, Befrits, Ragnar, Björk, Jan, Bresso, Francesca, Törkvist, Leif, Halfvarson, Jonas, Kere, Juha, D'Amato, Mauro
Published 2011

Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis

by Gemmati, Donato, Zeri, Giulia, Orioli, Elisa, De Gaetano, Francesca E, Salvi, Fabrizio, Bartolomei, Ilaria, D’Alfonso, Sandra, Dall’Osso, Claudia, Leone, Maurizio A, Singh, Ajay V, Asselta, Rosanna, Zamboni, Paolo
Published 2012

The Impact of Osteopontin Gene Variations on Multiple Sclerosis Development and Progression

by Comi, Cristoforo, Cappellano, Giuseppe, Chiocchetti, Annalisa, Orilieri, Elisabetta, Buttini, Sara, Ghezzi, Laura, Galimberti, Daniela, Guerini, Franca, Barizzone, Nadia, Perla, Franco, Leone, Maurizio, D'Alfonso, Sandra, Caputo, Domenico, Scarpini, Elio, Cantello, Roberto, Dianzani, Umberto
Published 2012

Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure

by Alonso-Perez, Elisa, Suarez-Gestal, Marian, Calaza, Manuel, Witte, Torsten, Papasteriades, Chryssa, Marchini, Maurizio, Migliaresi, Sergio, Kovacs, Attila, Ordi-Ros, Josep, Bijl, Marc, Santos, Maria Jose, Ruzickova, Sarka, Pullmann, Rudolf, Carreira, Patricia, Skopouli, Fotini N., D'Alfonso, Sandra, Sebastiani, Gian Domenico, Suarez, Ana, Blanco, Francisco J., Gomez-Reino, Juan J., Gonzalez, Antonio
Published 2011

Association of Genetic Markers with CSF Oligoclonal Bands in Multiple Sclerosis Patients

by Leone, Maurizio A., Barizzone, Nadia, Esposito, Federica, Lucenti, Ausiliatrice, Harbo, Hanne F., Goris, An, Kockum, Ingrid, Oturai, Annette Bang, Celius, Elisabeth Gulowsen, Mero, Inger L., Dubois, Bénédicte, Olsson, Tomas, Søndergaard, Helle Bach, Cusi, Daniele, Lupoli, Sara, Andreassen, Bettina Kulle, Myhr, Kjell-Morten, Guerini, Franca R., Comi, Giancarlo, Martinelli-Boneschi, Filippo, D'Alfonso, Sandra
Published 2013

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

by Delgado-Vega, Angélica M, Dozmorov, Mikhail G, Quirós, Manuel Bernal, Wu, Ying-Yu, Martínez-García, Belén, Kozyrev, Sergey V, Frostegård, Johan, Truedsson, Lennart, de Ramón, Enrique, González-Escribano, María F, Ortego-Centeno, Norberto, Pons-Estel, Bernardo A, D'Alfonso, Sandra, Sebastiani, Gian Domenico, Witte, Torsten, Lauwerys, Bernard R, Endreffy, Emoke, Kovács, László, Vasconcelos, Carlos, da Silva, Berta Martins, Wren, Jonathan D, Martin, Javier, Castillejo-López, Casimiro, Alarcón-Riquelme, Marta E
Published 2012

Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies

by George, Michaela F., Briggs, Farren B.S., Shao, Xiaorong, Gianfrancesco, Milena A., Kockum, Ingrid, Harbo, Hanne F., Celius, Elisabeth G., Bos, Steffan D., Hedström, Anna, Shen, Ling, Bernstein, Allan, Alfredsson, Lars, Hillert, Jan, Olsson, Tomas, Patsopoulos, Nikolaos A., De Jager, Philip L., Oturai, Annette B., Søndergaard, Helle B., Sellebjerg, Finn, Sorensen, Per S., Gomez, Refujia, Caillier, Stacy J., Cree, Bruce A.C., Oksenberg, Jorge R., Hauser, Stephen L., D'Alfonso, Sandra, Leone, Maurizio A., Boneschi, Filippo Martinelli, Sorosina, Melissa, van der Mei, Ingrid, Taylor, Bruce V., Zhou, Yuan, Schaefer, Catherine, Barcellos, Lisa F.
Published 2016

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

by Beecham, Ashley H, Patsopoulos, Nikolaos A, Xifara, Dionysia K, Davis, Mary F, Kemppinen, Anu, Cotsapas, Chris, Shahi, 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, Hobart, Jeremy, Hoshi, Muni, Hunt, Sarah E, Jagodic, Maja, Jelčić, Ilijas, Jochim, Angela, Kendall, Brian, Kermode, Allan, Kilpatrick, Trevor, Koivisto, Keijo, Konidari, Ioanna, Korn, Thomas, Kronsbein, Helena, Langford, Cordelia, Larsson, Malin, Lathrop, Mark, Lebrun-Frenay, Christine, Lechner-Scott, Jeannette, Lee, Michelle H, Leone, Maurizio A, Leppä, Virpi, Liberatore, Giuseppe, Lie, Benedicte A, Lill, Christina M, Lindén, Magdalena, Link, Jenny, Luessi, Felix, Lycke, Jan, Macciardi, Fabio, Männistö, Satu, Manrique, Clara P, Martin, Roland, Martinelli, Vittorio, Mason, Deborah, Mazibrada, Gordon, McCabe, Cristin, Mero, Inger-Lise, Mescheriakova, Julia, Moutsianas, Loukas, Myhr, Kjell-Morten, Nagels, Guy, Nicholas, Richard, Nilsson, Petra, Piehl, Fredrik, Pirinen, Matti, Price, Siân E, Quach, Hong, Reunanen, Mauri, Robberecht, Wim, Robertson, Neil P, Rodegher, Mariaemma, Rog, David, Salvetti, Marco, Schnetz-Boutaud, Nathalie C, Sellebjerg, Finn, Selter, Rebecca C, Schaefer, Catherine, Shaunak, Sandip, Shen, Ling, Shields, Simon, Siffrin, Volker, Slee, Mark, Sorensen, Per Soelberg, Sorosina, Melissa, Sospedra, Mireia, Spurkland, Anne, Strange, Amy, Sundqvist, Emilie, Thijs, Vincent, Thorpe, John, Ticca, Anna, Tienari, Pentti, van Duijn, Cornelia, Visser, Elizabeth M, Vucic, Steve, Westerlind, Helga, Wiley, James S, Wilkins, Alastair, Wilson, James F, Winkelmann, Juliane, Zajicek, John, Zindler, Eva, Haines, Jonathan L, Pericak-Vance, Margaret A, Ivinson, Adrian J, Stewart, Graeme, Hafler, David, Hauser, Stephen L, Compston, Alastair, McVean, Gil, De Jager, Philip, Sawcer, Stephen, McCauley, Jacob L
Published 2013

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

by Sawcer, Stephen, Hellenthal, Garrett, Pirinen, Matti, Spencer, Chris C.A., Patsopoulos, Nikolaos A., Moutsianas, Loukas, Dilthey, Alexander, Su, Zhan, Freeman, Colin, Hunt, Sarah E., Edkins, Sarah, Gray, Emma, Booth, David R., Potter, Simon C., Goris, An, Band, Gavin, Oturai, Annette Bang, Strange, Amy, Saarela, Janna, Bellenguez, Céline, Fontaine, Bertrand, Gillman, Matthew, Hemmer, Bernhard, Gwilliam, Rhian, Zipp, Frauke, Jayakumar, Alagurevathi, Martin, Roland, Leslie, Stephen, Hawkins, Stanley, Giannoulatou, Eleni, D’alfonso, Sandra, Blackburn, Hannah, Boneschi, Filippo Martinelli, Liddle, Jennifer, Harbo, Hanne F., Perez, Marc L., Spurkland, Anne, Waller, Matthew J, Mycko, Marcin P., Ricketts, Michelle, Comabella, Manuel, Hammond, Naomi, Kockum, Ingrid, McCann, Owen T., Ban, Maria, Whittaker, Pamela, Kemppinen, Anu, Weston, Paul, Hawkins, Clive, Widaa, Sara, Zajicek, John, Dronov, Serge, Robertson, Neil, Bumpstead, Suzannah J., Barcellos, Lisa F., Ravindrarajah, Rathi, Abraham, Roby, Alfredsson, Lars, Ardlie, Kristin, Aubin, Cristin, Baker, Amie, Baker, Katharine, Baranzini, Sergio E., Bergamaschi, Laura, Bergamaschi, Roberto, Bernstein, Allan, Berthele, Achim, Boggild, Mike, Bradfield, Jonathan P., Brassat, David, Broadley, Simon A., Buck, Dorothea, Butzkueven, Helmut, Capra, Ruggero, Carroll, William M., Cavalla, Paola, Celius, Elisabeth G., Cepok, Sabine, Chiavacci, Rosetta, Clerget-Darpoux, Françoise, Clysters, Katleen, Comi, Giancarlo, Cossburn, Mark, Cournu-Rebeix, Isabelle, Cox, Mathew B., Cozen, Wendy, Cree, Bruce A.C., Cross, Anne H., Cusi, Daniele, Daly, Mark J., Davis, Emma, de Bakker, Paul I.W., Debouverie, Marc, D’hooghe, Marie Beatrice, Dixon, Katherine, Dobosi, Rita, Dubois, Bénédicte, Ellinghaus, David, Elovaara, Irina, Esposito, Federica, Fontenille, Claire, Foote, Simon, Franke, Andre, Galimberti, Daniela, Ghezzi, Angelo, Glessner, Joseph, Gomez, Refujia, Gout, Olivier, Graham, Colin, Grant, Struan F.A., Guerini, Franca Rosa, Hakonarson, Hakon, Hall, Per, Hamsten, Anders, Hartung, Hans-Peter, Heard, Rob N., Heath, Simon, Hobart, Jeremy, Hoshi, Muna, Infante-Duarte, Carmen, Ingram, Gillian, Ingram, Wendy, Islam, Talat, Jagodic, Maja, Kabesch, Michael, Kermode, Allan G., Kilpatrick, Trevor J., Kim, Cecilia, Klopp, Norman, Koivisto, Keijo, Larsson, Malin, Lathrop, Mark, Lechner-Scott, Jeannette S., Leone, Maurizio A., Leppä, Virpi, Liljedahl, Ulrika, Bomfim, Izaura Lima, Lincoln, Robin R., Link, Jenny, Liu, Jianjun, Lorentzen, Åslaug R., Lupoli, Sara, Macciardi, Fabio, Mack, Thomas, Marriott, Mark, Martinelli, Vittorio, Mason, Deborah, McCauley, Jacob L., Mentch, Frank, Mero, Inger-Lise, Mihalova, Tania, Montalban, Xavier, Mottershead, John, Myhr, Kjell-Morten, Naldi, Paola, Ollier, William, Page, Alison, Palotie, Aarno, Pelletier, Jean, Piccio, Laura, Pickersgill, Trevor, Piehl, Fredrik, Pobywajlo, Susan, Quach, Hong L., Ramsay, Patricia P., Reunanen, Mauri, Reynolds, Richard, Rioux, John D., Rodegher, Mariaemma, Roesner, Sabine, Rubio, Justin P., Rückert, Ina-Maria, Salvetti, Marco, Salvi, Erika, Santaniello, Adam, Schaefer, Catherine A., Schreiber, Stefan, Schulze, Christian, Scott, Rodney J., Sellebjerg, Finn, Selmaj, Krzysztof W., Sexton, David, Shen, Ling, Simms-Acuna, Brigid, Skidmore, Sheila, Sleiman, Patrick M.A., Smestad, Cathrine, Sørensen, Per Soelberg, Søndergaard, Helle Bach, Stankovich, Jim, Strange, Richard C., Sulonen, Anna-Maija, Sundqvist, Emilie, Syvänen, Ann-Christine, Taddeo, Francesca, Taylor, Bruce, Blackwell, Jenefer M., Tienari, Pentti, Bramon, Elvira, Tourbah, Ayman, Brown, Matthew A., Tronczynska, Ewa, Casas, Juan P., Tubridy, Niall, Corvin, Aiden, Vickery, Jane, Jankowski, Janusz, Villoslada, Pablo, Markus, Hugh S., Wang, Kai, Mathew, Christopher G., Wason, James, Palmer, Colin N.A., Wichmann, H-Erich, Plomin, Robert, Willoughby, Ernest, Rautanen, Anna, Winkelmann, Juliane, Wittig, Michael, Trembath, Richard C., Yaouanq, Jacqueline, Viswanathan, Ananth C., Zhang, Haitao, Wood, Nicholas W., Zuvich, Rebecca, Deloukas, Panos, Langford, Cordelia, Duncanson, Audrey, Oksenberg, Jorge R., Pericak-Vance, Margaret A., Haines, Jonathan L., Olsson, Tomas, Hillert, Jan, Ivinson, Adrian J., De Jager, Philip L., Peltonen, Leena, Stewart, Graeme J., Hafler, David A., Hauser, Stephen L., McVean, Gil, Donnelly, Peter, Compston, Alastair
Published 2011