Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
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
Published in Lancet neurology (01.04.2012)
Published in Lancet neurology (01.04.2012)
Get full text
Journal Article
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John M E, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J H, Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, Kurian, Manju A
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
Get full text
Journal Article
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
Shatunov, Aleksey, PhD, Mok, Kin, MSc, Newhouse, Stephen, PhD, Weale, Michael E, PhD, Smith, Bradley, PhD, Vance, Caroline, PhD, Johnson, Lauren, PhD, Veldink, Jan H, MD, van Es, Michael A, MD, van den Berg, Leonard H, Prof, Robberecht, Wim, Prof, Van Damme, Philip, MD, Hardiman, Orla, Prof, Farmer, Anne E, Prof, Lewis, Cathryn M, Prof, Butler, Amy W, PhD, Abel, Olubunmi, MSc, Andersen, Peter M, Prof, Fogh, Isabella, PhD, Silani, Vincenzo, Prof, Chiò, Adriano, MD, Traynor, Bryan J, MD, Melki, Judith, Prof, Meininger, Vincent, Prof, Landers, John E, PhD, McGuffin, Peter, Prof, Glass, Jonathan D, MD, Pall, Hardev, MD, Leigh, P Nigel, Prof, Hardy, John, Prof, Brown, Robert H, Prof, Powell, John F, DPhil, Orrell, Richard W, MD, Morrison, Karen E, Prof, Shaw, Pamela J, Prof, Shaw, Christopher E, Prof, Al-Chalabi, Ammar, Prof
Published in Lancet neurology (01.10.2010)
Published in Lancet neurology (01.10.2010)
Get full text
Journal Article
Phenotypic insights into ADCY5-associated disease
Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez-Dueñas, Belen, Grattan-Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
Get full text
Journal Article
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
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, Jr, Robert H, Weale, Michael E, Al-Chalabi, Ammar, Shaw, Christopher E
Published in European journal of human genetics : EJHG (01.01.2013)
Published in European journal of human genetics : EJHG (01.01.2013)
Get full text
Journal Article
SGCE mutations cause psychiatric disorders: clinical and genetic characterization
PEALL, Kathryn J, SMITH, Daniel J, WHITE, Cathy, LUX, Andrew, JARDINE, Philip, BAJAJ, Narinder, LYNCH, Bryan, KIROV, George, O'RIORDAN, Sean, SAMUEL, Michael, LYNCH, Timothy, KING, Mary D, KURIAN, Manju A, CHINNERY, Patrick F, WARNER, Thomas T, BLAKE, Derek J, OWEN, Michael J, MORRIS, Huw R, WARDLE, Mark, WAITE, Adrian J, HEDDERLY, Tammy, LIN, Jean-Pierre, SMITH, Martin, WHONE, Alan, PALL, Hardev
Published in Brain (London, England : 1878) (2013)
Published in Brain (London, England : 1878) (2013)
Get full text
Journal Article
Theory of mind deficits in Parkinson's disease: a product of executive dysfunction?
Eddy, Clare M, Beck, Sarah R, Mitchell, Ian J, Praamstra, Peter, Pall, Hardev S
Published in Neuropsychology (01.01.2013)
Published in Neuropsychology (01.01.2013)
Get more information
Journal Article
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death
Morimoto, Masafumi, Musson, Rhiannon, van Marion, Ingrid, Moons, Lieve, Al-Chalabi, Ammar, Katayama, Shigehiro, Leigh, Nigel, Del-Favero, Jurgen, Hansen, Valerie, Collen, Désiré, Shaw, Christopher, Rutgeerts, Paul, Awata, Takuya, Marklund, Stefan L, Lambrechts, Diether, Andersson, Jörgen, Lang-Lazdunski, Loïc, Vlietinck, Robert, Van Broeckhoven, Christine, Thijs, Vincent, Pall, Hardev Singh, Carmeliet, Peter, Robberecht, Wim, Storkebaum, Erik, Bornes, Stephanie, Andersen, Peter M, Vermeire, Severine, Desmet, Frederik, Adolfsson, Rolf, Morrison, Karen E, Prats, Hervé, Wyns, Sabine, Beckman, Lars, Dewerchin, Mieke
Published in Nature genetics (01.08.2003)
Published in Nature genetics (01.08.2003)
Get full text
Journal Article
N‐glycosylation and expression in human tissues of the orphan GPR61 receptor
Kozielewicz, Paweł, Alomar, Hatun, Yusof, Syaratul, Grafton, Gillian, Cooper, Alison J., Curnow, S. John, Ironside, James W., Pall, Hardev, Barnes, Nicholas M.
Published in FEBS open bio (01.12.2017)
Published in FEBS open bio (01.12.2017)
Get full text
Journal Article
Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis
Xiao, Shangxi, Sato, Christine, Kawarai, Toshitaka, Goodall, Emily F, Pall, Hardev S, Zinman, Lorne H, Robertson, Janice, Morrison, Karen, Rogaeva, Ekaterina
Published in Neurobiology of aging (01.08.2008)
Published in Neurobiology of aging (01.08.2008)
Get full text
Journal Article
Large-scale pathways-based association study in amyotrophic lateral sclerosis
Kasperavičiūtė, Dalia, Weale, Mike E., Shianna, Kevin V., Banks, Gareth T., Simpson, Claire L., Hansen, Valerie K., Turner, Martin R., Shaw, Christopher E., Al-Chalabi, Ammar, Pall, Hardev S., Goodall, Emily F., Morrison, Karen E., Orrell, Richard W., Beck, Marcus, Jablonka, Sibylle, Sendtner, Michael, Brockington, Alice, Ince, Paul G., Hartley, Judith, Nixon, Hannah, Shaw, Pamela J., Schiavo, Giampietro, Wood, Nicholas W., Goldstein, David B., Fisher, Elizabeth M.C.
Published in Brain (London, England : 1878) (01.09.2007)
Published in Brain (London, England : 1878) (01.09.2007)
Get full text
Journal Article
Deep brain stimulation of the subthalamic nucleus for advanced Parkinson disease using general anesthesia: long-term results
Harries, Anwen M, Kausar, Jamilla, Roberts, Stuart A G, Mocroft, A Paul, Hodson, James A, Pall, Hardev S, Mitchell, Rosalind D
Published in Journal of neurosurgery (01.01.2012)
Published in Journal of neurosurgery (01.01.2012)
Get more information
Journal Article
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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, ten Asbroek, Anneloor L M A, 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
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
Get full text
Journal Article
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
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, Muñoz-Blanco, José Luis, Simpson, Michael, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, 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.
Published in Neuron (Cambridge, Mass.) (22.10.2014)
Published in Neuron (Cambridge, Mass.) (22.10.2014)
Get full text
Journal Article
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
Johnson, Janel O, Chia, Ruth, Miller, Danny E, Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E, Topp, Simon D, Gibbs, J Raphael, Cookson, Mark R, Sabir, Marya S, Dalgard, Clifton L, Troakes, Claire, Jones, Ashley R, Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P, Dobson-Stone, Carol, Kwok, John B, Bonkowski, Emily S, Palvadeau, Robin, Tienari, Pentti J, Morrison, Karen E, Shaw, Pamela J, Al-Chalabi, Ammar, Brown, Jr, Robert H, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J, Perlman, Seth J, Glass, Ian, Scott, Anna I, Shaw, Christopher E, Basak, A Nazli, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan J, Smith, Bradley N, Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D, Scotter, Emma L, Kenna, Kevin P, Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, Ten Asbroek, Anneloor L M A, McKenna-Yasek, Diane, McLaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Stevic, Zorica, D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L, Nicholson, Garth A, Leblond-Manry, Claire, Rouleau, Guy A, Hardiman, Orla, Veldink, Jan H, van den Berg, Leonard H, Al-Chalabi, Ammar, Pall, Hardev, Turner, Martin R
Published in Archives of neurology (Chicago) (01.10.2021)
Published in Archives of neurology (Chicago) (01.10.2021)
Get full text
Journal Article
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
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, Vianney de Jong, J M, 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, Jr, Robert H, Silani, Vincenzo, Landers, John E, Shaw, Christopher E
Published in Science translational medicine (03.05.2017)
Published in Science translational medicine (03.05.2017)
Get more information
Journal Article