Reply to Millecamps et al.: Elucidating the role of D amino acid oxidase in familial amyotrophic lateral sclerosis

по de Belleroche, Jacqueline, Morris, Alex
Опубликовано 2010

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB

по Kwok, Chun T, Morris, Alex, de Belleroche, Jacqueline S
Опубликовано 2014

A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12.1-16q12.2

по Abalkhail, Halah, Mitchell, John, Habgood, James, Orrell, Richard, de Belleroche, Jacqueline
Опубликовано 2003

Pharmacological analysis of red-wine-induced migrainous headaches

по Peatfield, Richard C., Fletcher, Gordon, Rhodes, Keith, Gardiner, Ian M., de Belleroche, Jacqueline
Опубликовано 2003

Tissue‐selective regulation of protein homeostasis and unfolded protein response signalling in sporadic ALS

по Montibeller, Luigi, Tan, Li Yi, Kim, Joo Kyung, Paul, Praveen, de Belleroche, Jacqueline
Опубликовано в: J Cell Mol Med (2020)

Investigation of G72 (DAOA) expression in the human brain

по Benzel, Isabel, Kew, James NC, Viknaraja, Ramya, Kelly, Fiona, de Belleroche, Jacqueline, Hirsch, Steven, Sanderson, Thirza H, Maycox, Peter R
Опубликовано 2008

Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons

по Kondori, Nazanin Rahmani, Paul, Praveen, Robbins, Jacqueline P., Liu, Ke, Hildyard, John C. W., Wells, Dominic J., de Belleroche, Jacqueline S.
Опубликовано в: PLoS One (2017)

Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS)

по Kondori, Nazanin R., Paul, Praveen, Robbins, Jacqueline P., Liu, Ke, Hildyard, John C. W., Wells, Dominic J., de Belleroche, Jacqueline S.
Опубликовано в: Front Mol Biosci (2018)

Identification of PEX7 as the Second Gene Involved in Refsum Disease

по van den Brink, Daan M., Brites, Pedro, Haasjes, Janet, Wierzbicki, Anthony S., Mitchell, John, Lambert-Hamill, Michelle, de Belleroche, Jacqueline, Jansen, Gerbert A., Waterham, Hans R., Wanders, Ronald J. A.
Опубликовано 2003

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

по Mitchell, John, Paul, Praveen, Chen, Han-Jou, Morris, Alex, Payling, Miles, Falchi, Mario, Habgood, James, Panoutsou, Stefania, Winkler, Sabine, Tisato, Veronica, Hajitou, Amin, Smith, Bradley, Vance, Caroline, Shaw, Christopher, Mazarakis, Nicholas D., de Belleroche, Jacqueline
Опубликовано 2010

Heat Shock Protein 27 Overexpression Mitigates Cytokine-Induced Islet Apoptosis and Streptozotocin-Induced Diabetes

по Dai, Tiane, Patel-Chamberlin, Mina, Natarajan, Rama, Todorov, Ivan, Ma, Jun, LaPage, Janine, Phillips, Lynetta, Nast, Cynthia C., Becerra, Diana, Chuang, Peter, Tong, Lili, de Belleroche, Jacqueline, Wells, Dominic J., Wang, Ying, Adler, Sharon G.
Опубликовано 2009

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

по Sreedharan, Jemeen, Blair, Ian P., Tripathi, Vineeta B., Hu, Xun, Vance, Caroline, Rogelj, Boris, Ackerley, Steven, Durnall, Jennifer C., Williams, Kelly L., Buratti, Emanuele, Baralle, Francisco, de Belleroche, Jacqueline, Mitchell, J. Douglas, Leigh, P. Nigel, Al-Chalabi, Ammar, Miller, Christopher C., Nicholson, Garth, Shaw, Christopher E.
Опубликовано в: Science (2008)

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

по de Majo, Martina, Topp, Simon D., Smith, Bradley N., Nishimura, Agnes L., Chen, Han-Jou, Gkazi, Athina Soragia, Miller, Jack, Wong, Chun Hao, Vance, Caroline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Kenna, Kevin P., Ticozzi, Nicola, Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Morrison, Karen E., Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Gellera, Cinzia, Ratti, Antonia, Al-Chalabi, Ammar, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.
Опубликовано в: Neurobiol Aging (2018)

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

по Smith, Bradley N, Newhouse, Stephen, Shatunov, Aleksey, Vance, Caroline, Topp, Simon, Johnson, Lauren, Miller, Jack, Lee, Younbok, Troakes, Claire, Scott, Kirsten M, Jones, Ashley, Gray, Ian, Wright, Jamie, Hortobágyi, Tibor, Al-Sarraj, Safa, Rogelj, Boris, Powell, John, Lupton, Michelle, Lovestone, Simon, Sapp, Peter C, Weber, Markus, Nestor, Peter J, Schelhaas, Helenius J, Asbroek, Anneloor ALM ten, Silani, Vincenzo, Gellera, Cinzia, Taroni, Franco, Ticozzi, Nicola, Van den Berg, Leonard, Veldink, Jan, Van Damme, Phillip, Robberecht, Wim, Shaw, Pamela J, Kirby, Janine, Pall, Hardev, Morrison, Karen E, Morris, Alex, de Belleroche, Jacqueline, Vianney de Jong, J M B, Baas, Frank, Andersen, Peter M, Landers, John, Brown, Robert H, Weale, Michael E, Al-Chalabi, Ammar, Shaw, Christopher E
Опубликовано 2013

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

по Smith, Bradley N., Topp, Simon D., Fallini, Claudia, Shibata, Hideki, Chen, Han-Jou, Troakes, Claire, King, Andrew, Ticozzi, Nicola, Kenna, Kevin P., Soragia-Gkazi, Athina, Miller, Jack W., Sato, Akane, Dias, Diana Marques, Jeon, Maryangel, Vance, Caroline, Wong, Chun Hao, de Majo, Martina, Kattuah, Wejdan, Mitchell, Jacqueline C., Scotter, Emma L., Parkin, Nicholas W., Sapp, Peter C., Nolan, Matthew, Nestor, Peter J., Simpson, Michael, Weale, Michael, Lek, Monkel, Baas, Frank, de Jong, J. M. Vianney, ten Asbroek, Anneloor L. M. A., Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Leigh, Nigel, Pall, Hardev, Morrison, Karen E., Al-Chalabi, Ammar, Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Maki, Masatoshi, Moss, Stephen E., Miller, Christopher, Gellera, Cinzia, Ratti, Antonia, Al-Sarraj, Safa, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.
Опубликовано в: Sci Transl Med (2017)

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

по Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, oz-Blanco, José Luis Muñ, Simpson, Michael, Consortium, SLAGEN, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E.
Опубликовано в: Neuron (2014)

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

по Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.
Опубликовано в: Nat Commun (2016)

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

по Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, Asbroek, Anneloor L M A ten, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E
Опубликовано в: Nat Genet (2016)

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

по Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L., Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L., Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O., D’Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, de Araujo Martins Moreno, Cristiane, Kamalakaran, Sitharthan, Goldstein, David B., Gitler, Aaron D., Harris, Tim, Myers, Richard M., Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K., LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N., Thompson, Leslie M., Van Eyk, Jennifer E., Berry, James D., Miller, Timothy M., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Malaspina, Andrea, Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Sapp, Peter C., McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, Pulst, Stefan M., Ravits, John M., MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H., Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Rouleau, Guy A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W., Maragakis, Nicholas J., Rothstein, Jeffrey D., Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Camu, William, Trojanowski, John Q., Van Deerlin, Vivianna M, Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Harms, Matthew B., Glass, Jonathan D., Stone, David J., Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E.
Опубликовано в: Neuron (2018)