Zobrazeno 51 - 60
of 793
pro vyhledávání: '"Rose, Sarah"'
Autor:
Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska
Publikováno v:
Nature
Nature, Nature Publishing Group, 2020, 583 (7814), pp.96-102. ⟨10.1038/s41586-020-2434-2⟩
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O, Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Daniels, M J & Evans, D G 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature (London), vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Nature, 583(7814), 96-102. Nature Publishing Group
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Nature, Nature Publishing Group, 2020, 583 (7814), pp.96-102. ⟨10.1038/s41586-020-2434-2⟩
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, 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Daniels, M J & Evans, D G 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature (London), vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Nature, 583(7814), 96-102. Nature Publishing Group
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system
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Oosterloo, Mayke, Bijlsma, Emilia K., van Kuijk, Sander MJ., Minkels, Floor, de Die-Smulders, Christine EM., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna-Rita, Biunno, Ida, Bonelli, Raphael M., Bronzova, Juliana, Burgunder, Jean-Marc, Dunnett, Stephen B., Ferreira, Joaquim J., Frich, Jan, Giuliano, Joe, Handley, Olivia J., Heiberg, Arvid, Illarioshkin, Sergey, Illmann, Torsten, Klempir, Jiri, Landwehrmeyer, G. Bernhard, Levey, Jamie, Mclean, Tim, Nielsen, Jørgen E., Koivisto, Susana Pro, Päivärinta, Markku, Pålhagen, Sven, Quarrell, Oliver, Ramos-Arroyo, Maria, Roos, Raymund A. 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Jenny, Cubillo, Patricia Trigo, van Walsem, Marleen R., Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Hecht, Karen, Herranhof, Brigitte, Holl (formerly Hödl), Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Linder, Christoph, Pirker, Walter, Liessens, Dirk, Calmeyn, Godelinde, Somers, Nele, Delvaux, Isabelle, Boogaerts, Andrea, Flamez, Anja, de Raedt, 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A., Dumas, Eve M., t Hart, Ellen P., Hogenboom, Marye, Jacobs, Milou, Jurgens, Caroline, Kampstra, Anne, Schoonderbeek, Anne, Witjes-Ané, Marie-Noëlle, Duits, Annelien, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Retterstøl, Lars, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, van Walsem, Marleen, Wehus, Ragnhild, Arntsen, Vibeke, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Østern, Rune, Paulsen, Julie, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska – Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anna Bryl, Jacek Anioła, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol (formerly Kalbarczyk), Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski+, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, Dias, Margarida, Morgado, Joana, Semedo, Cristina, Coelho, Miguel, 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Díaz-Zorita, Juan Pablo, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Ruiz Idiago, Jesús Miguel, Riballo, Antonio Villa, Campolongo, Antonia, Fernandez de Bobadilla, Ramon, Bojarsky, Jaime Kulisevsky, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Acera Gil, Maria Angeles, Corrales, Koldo Berganzo, Gomez Esteban, Juan Carlos, González, Amaia, Merino, Beatriz Tijero, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Sánchez, Jesús, Romero, Sandra Gutierrez, Arbelo, José Matías, Malo de Molina, Rocío, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Loarte, María del Valle, Barrero, Francisco, Morales, Blas, Frades, Belén, Villanueva, Marina Ávila, Zea Sevilla, Maria Ascension, Fenollar, María del Mar, García-Ramos García, Rocío, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatás, Caldentey, Juan García, Ribas, Guillermo García, 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Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Goudie, David, Buchanan, Lindsay, Mcfadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Carrie, Ho, Mcgill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Neumann, Christian, Patterson, Kirsten, Thomson, David, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Harrison, Kaye, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Rowett, Liz, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Gosling (nee Brown), Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thomas, Wild, Edward, Ackermann, Oda, Duport, Sophie, Scott, Adrienne, Stoy, Nicholas, Vaughn, Jenny, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen (formerly Ritchie), Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Lois, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Purkayastha, Debasish Das, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O., Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Burn, John, Bailey, Wendy, Coleman, Caroline, Majeed, Tahir, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Aileen, Ho, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, 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Publikováno v:
Oosterloo, M, Bijlsma, E K, van Kuijk, S M, Minkels, F, de Die-Smulders, C E & REGISTRY Investigators of the European Huntington's Disease Network 2019, ' Clinical and genetic characteristics of late-onset Huntington's disease ', Parkinsonism & Related Disorders, vol. 61, pp. 101-105 . https://doi.org/10.1016/j.parkreldis.2018.11.009
Parkinsonism & related disorders (2018). doi:10.1016/j.parkreldis.2018.11.009
info:cnr-pdr/source/autori:Oosterloo M.; Bijlsma E.K.; van Kuijk S.M.; Minkels F.; de Die-Smulders C.E.; Bachoud-Levi A.-C.; Bentivoglio A.-R.; Biunno I.; Bonelli R.M.; Bronzova J.; Burgunder J.-M.; Dunnett S.B.; Ferreira J.J.; Frich J.; Giuliano J.; Handley O.J.; Heiberg A.; Illarioshkin S.; Illmann T.; Klempir J.; Landwehrmeyer G.B.; Levey J.; McLean T.; Nielsen J.E.; Koivisto S.P.; Paivarinta M.; Palhagen S.; Quarrell O.; Ramos-Arroyo M.; Roos R.A.C.; Saft C.; Sebastian A.R.; Tabrizi S.J.; Vandenberghe W.; Verellen-Dumoulin C.; Uhrova T.; Wahlstrom+ J.; Zaremba J.; (formerly Rodig V.B.; Barth K.; Garde M.B.; Becanovic K.; Bernard T.; Betz S.; Bos R.; Come A.; Guedes L.C.; Callaghan J.; Capodarca S.; Charpentier S.; Vieira da Silva W.; Di Renzo M.; Ecker D.; Finisterra A.M.; Fullam R.; Genoves C.; Gilling M.; Handley O.J.; Horta A.; Hvalstedt C.; Held C.; Hussain H.; Koppers K.; Lamanna C.; Laura M.; Descals A.M.; Martinez-Horta S.; Mestre T.; Minster S.; Monza D.; Munkel K.; Mutze L.; 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van de Wyngaerde F.; Dupuis M.; Minet C.; Ribai P.; Van Paemel D.; Verellen-Dumoulin C.; Boogaerts A.; Vandenberghe W.; van Reijen D.; Weckx P.; Kaiserova M.; Senkarova Z.; Bezdicek O.; Klempir J.; Klempirova O.; Majerova-Ibarburu V.; Nikolai T.; Roth J.; Starkova I.; Madsen L.H.; Moller A.T.; Hjermind L.; Jacobsen O.; Larsen I.U.; Lindquist S.; Nielsen J.; Regeur L.; Roos P.; Stockholm J.; Vangsted-Hansen C.; Vinther-Jensen T.; Lolk A.; Lundsgaard M.; Wermuth L.; Andersson C.; Nyberg C.; Sundblom J.; Peippo M.; Sipponen M.; Bruun A.; Hartikainen P.; Makipaa S.; Ollokainen M.; Aman J.; Karppa M.; Ignatius J.; Jaaskelainen O.; Kajula O.; Moilanen J.; Mustonen A.; Santala M.; Eklund P.; Hiivola H.; Hypponen H.; Martikainen K.; Ojala M.; Tahkapaa S.; Tuuha K.; Allain P.; Bonneau D.; Bost M.; Gohier B.; Guerid M.-A.; Olivier A.; Prouzet J.; Prundean A.; Scherer-Gagou C.; Verny C.; Babiloni B.; Bled D.; Debruxelles S.; Duche C.; Fraisse S.; Goizet C.; Jameau L.; Lafoucriere D.; Spampinato U.; 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Roze E.; Tataru A.; Tchikviladze M.; Bioux S.; Bliaux E.; Girard C.; Guyant-Marechal L.; Hannequin D.; Hannier V.; Jourdain S.; Maltete D.; Pouliquen D.; Anheim M.; Barun N.; Lagha-Boukbiza O.; Longato N.; Marcel C.; Phillipps C.; Rudolf G.; Steinmetz G.; Tranchant C.; Wagner C.; Zimmermann M.-A.; Blondeau L.; Calvas F.; Cheriet S.; Delabaere H.; Demonet J.-F.; Marquine L.; Pariente J.; Pierre M.; Pomies E.; Rolland S.; Souyris C.; Kosinski C.M.; Milkereit E.; Probst D.; Reetz K.; Sass C.; Schiefer J.; Schlangen C.; Werner C.J.; Beuth M.; Gelderblom H.; Priller J.; Pruss H.; Spruth E.; Thiel S.; Andrich J.; Ellrichmann G.; Herrmann L.; Hoffmann R.; Kaminski B.; Kraus P.; Saft C.; Stamm C.; Ganos C.; Stubbe L.; Tadic V.; Tubing J.; Lange H.; Bosredon C.; Hunger U.; Lohle M.; Maass A.; Ossig C.; Schmidt S.; Storch A.; Wolz A.; Wolz M.; Kohl Z.; Kozay C.; Ullah J.; Winkler J.; Bergmann U.; Boringer R.; Capetian P.; Kammel G.; Lambeck J.; Machtel M.; Meier S.; Rijntjes M.; Zucker B.; Boelmans K.; Ganos C.; Goerendt I.; Heinicke W.; Hidding U.; Lewerenz J.; Munchau A.; Orth M.; Schmalfeld J.; Stubbe L.; Zittel S.; Diercks G.; Dressler D.; Francis F.; Gayde-Stephan S.; Gorzolla H.; Kramer B.; Minschke R.; Schrader C.; Tacik P.; Ribbat+ M.; Longinus B.; Moller C.; Burk K.; Lusebrink A.; Muhlau M.; Peinemann A.; Stadtler M.; Weindl A.; Winkelmann J.; Ziegler C.; Bechtel N.; Beckmann H.; Bohlen S.; Gopfert N.; Holzner E.; Lange H.; Reilmann R.; Rohm S.; Rumpf S.; Sass C.; Schepers S.; Weber N.; Bachmeier M.; Dose M.; Hofstetter N.; Marquard R.; Muhlback A.; Barth K.; Buck A.; Connemann J.; Ecker D.; Geitner C.; Held C.; Kesse A.; Landwehrmeyer B.; Lezius F.; Lewerenz J.; Nepper S.; Niess A.; Orth M.; Schneider A.; Schwenk D.; Sussmuth S.; Trautmann S.; Vogel M.; Weydt P.; Klebe S.; Musacchio T.; Leypold C.; Noth K.; Cormio C.; Difruscolo O.; Franco G.; Nuzzi A.; Sciruicchio V.; Serpino C.; de Tommaso M.; Calandra-Buonaura G.; Capellari S.; Cortelli P.; Gallassi R.; Poda R.; Scaglione C.; Agosti C.; Barlati S.; Compostella S.; Marchina E.; Padovani A.; Figorilli M.; Marrosu F.; Muroni A.; Piras V.; Vacca M.; Bertini E.; Bartoli C.; Fortunato F.; Ghelli E.; Ginestroni A.; Mechi C.; Paganini M.; Piacentini S.; Pradella S.; Romoli A.M.; Sorbi S.; Abbruzzese G.; Bandettini di Poggio M.; Ferrandes G.; Mandich P.; Marchese R.; Di Maria E.; Tamburini T.; Albanese A.; Castagliuolo S.; Castaldo A.; Di Donato S.; Di Bella D.; Gellera C.; Genitrini S.; Mariotti C.; Monza D.; Nanetti L.; Panzeri M.; Paridi D.; Soliveri P.; Spagnolo F.; Taroni F.; Tomasello C.; De Michele G.; Di Maio L.; Rinaldi C.; Massarelli M.; Peluso S.; Roca A.; Russo C.V.; Salvatore E.; Sorrentino P.; Tucci T.; Cannella M.; Codella V.; De Gregorio F.; De Nicola A.; Elifani F.; Esposito C.; Martino T.; Mazzante I.; Petrollini M.; Simonelli M.; Vezza M.; Squitieri F.; D'Alessio B.; Lovo F.; Bentivoglio A.R.; Bove F.; Catalli C.; Di Giacopo R.; Fasano A.; Frontali M.; Guidubaldi A.; Ialongo T.; Jacopini G.; Loria G.; Modoni A.; Petracca M.; Piano C.; Chiara P.; Quaranta D.; Romano S.; Soleti F.; Solito M.; Spadaro M.; Torlizzi F.; Zinzi P.; Coarelli G.; Ferraldeschi M.; Frontali M.; Jacopini G.; Ristori G.; Romano S.; Zinzi P.; van Hout M.S.E.; van Vugt J.P.P.; Marit de Weert A.; Verhoeven M.; Dekker M.; Klooster J.; Leenders N.; van Oostrom J.; Kremer B.; Baake V.; van den Bogaard S.J.A.; Bos R.; Dumas E.M.; t Hart E.P.; Hogenboom M.; Jacobs M.; Jurgens C.; Kampstra A.; Roos R.A.C.; Schoonderbeek A.; Witjes-Ane M.-N.; Duits A.; Oosterloo M.; Waber M.; Kremer B.; Verstappen C.; Blinkenberg E.O.; Hauge E.; Tyvoll H.; Aaserud O.; Aanonsen N.O.; Bjorgo K.; Borgerod N.; Dramstad E.; Fannemel M.; Frich J.C.; Gorvell P.F.; Haggag K.; Johannessen C.H.; Heiberg A.; Retterstol L.; Rosby O.; Rummel J.; Sikiric A.; Stokke B.; van Walsem M.; Wehus R.; Arntsen V.; Bjornevoll I.; Sando S.B.; Haug M.G.; Storseth H.H.; Ostern R.; Paulsen J.; Dziadkiewicz A.; Konkel A.; Narozanska E.; Nowak M.; Robowski P.; Sitek E.; Slawek J.; Soltan W.; Szinwelski M.; Arkuszewski M.; Blaszczyk M.; Boczarska-Jedynak M.; Ciach-Wysocka E.; Gorzkowska A.; Jasinska-Myga B.; Kaczmarczyk A.; Klodowska-Duda G.; Opala G.; Rudzinska M.; Stompel D.; Banaszkiewicz K.; Bocwinska D.; Bojakowska-Jaremek K.; Dec M.; Grabska N.; Krawczyk M.; Kubowicz E.; Malec-Litwinowicz M.; Rudzinska M.; Stenwak A.; Szczudlik A.; Szczygiel E.; Wojcik M.; Wasielewska A.; Anna Bryl J.A.; Ciesielska A.; Klimberg A.; Marcinkowski J.; Samara H.; Sempolowicz J.; Wisniewski B.; Zielonka D.; Gogol (formerly Kalbarczyk) A.; Janik P.; Jamrozik Z.; Kaminska A.; Kwiecinski+ H.; Antczak J.; Jachinska K.; Krysa W.; Rakowicz M.; Rola R.; Ryglewicz D.; Sienkiewicz-Jarosz H.; Stepniak I.; Sulek A.; Witkowski G.; Zaremba J.; Zdzienicka E.; Ziora-Jakutowicz K.; Januario C.; Julio F.; Almeida M.; Calado A.; Dias M.; Morgado J.; Semedo C.; Guedes L.C.; Coelho M.; Ferreira J.J.; Magalhaes A.; Mestre T.; Mendes T.; Neutel D.; Rodrigues F.; Valadas A.; Costa C.; Cardoso H.; Mendes T.; Santos M.; Cacao G.; Cavaco S.; Damasio J.; Fernandes J.; Goncalves A.; Loureiro R.; Moreira I.; Magalhaes M.; Salgado P.; Andrade C.; Costa A.; Garrett C.; Gago M.; Guimaraes J.; Massano J.; Meireles J.; Monteiro A.; Khasanova D.; Zalyalova Z.; Illarioshkin S.; Klyushnikov S.; Sidorova O.; Smirnov O.; Yudina E.; Seliverstov Y.; Antonova V.; Kopishinskaya S.; Korotysh M.; Magzhanov R.; Saifullina E.; Kurbatov S.; Solis P.; Herrera C.D.; Moreno P.G.; Bas J.; Busquets N.; Calopa M.; Classen S.J.; Dedicha N.R.; Buongiorno M.T.; Maria A.D.L.C.S.; Munoz E.; Santacruz P.; Barbera M.A.; Sebastian A.R.; Pardo S.A.; Guia D.B.; Calzado N.; Hernanz L.C.; Tartari Diaz-Zorita J.P.; Catena J.L.; Ferrer P.Q.; Carruesco G.T.; Robert M.F.; Viladrich C.M.; Roca E.; Ruiz Idiago J.M.; Riballo A.V.; Campolongo A.; Fernandez de Bobadilla R.; Horta A.; Bojarsky J.K.; Martinez-Horta S.; Pagonabarraga J.; Perez J.P.; Ribosa R.; Villa C.; Acera Gil M.A.; Corrales K.B.; Gomez Esteban J.C.; Gonzalez A.; Merino B.T.; Cubo E.; Polo C.G.; Mariscal N.; Sanchez J.; Romero S.G.; Arbelo J.M.; Malo de Molina R.; Martin I.; Perianez J.M.; Udaeta B.; Alonso-Frech F.; Loarte M.D.V.; Barrero F.; Morales B.; Frades B.; Villanueva M.A.; Zea Sevilla M.A.; Fenollar M.D.M.; Garcia-Ramos Garcia R.; Villanueva C.; Bascunana M.; Ventura M.F.; Caldentey J.G.; Ribas G.G.; Garcia de Yebenes J.; Lopez-Sendon Moreno J.L.; Barral V.M.; Cubillo P.T.; Feliz C.; Garcia Ruiz P.J.; Garcia A.; Caldentey J.G.; Lopez R.G.; Barcenas A.H.; Martinez-Descals A.; Pueyo A.M.; Martin V.P.; Martinez N.R.; Montojo T.; Sainz Artiga M.J.; Sanchez V.; Alarcon M.D.; Almagro C.A.; Dieguez E.; Fortuna L.; Legaz A.; Manzanares S.; Munoz J.M.; Antequera Torres M.M.; Perea F.N.; Vivancos L.; Gonzalez S.; Guisasola L.M.; Prieto M.P.; Ribacoba R.; Salvador C.; Lozano P.S.; Caldentey J.G.; Ramirez I.L.; Benito D.M.; Arques P.N.; Lopera M.R.; Pastor B.V.; Gaston I.; Garcia-Amigot F.; Martinez-Jaurrieta M.D.; Ramos-Arroyo M.A.; Adarmes A.; Bernal-Escudero M.; Carrillo F.; Jesus S.; Mir P.; Vargas-Gonzalez L.; Hermoso F.D.; Garcia Moreno J.M.; Jaramillo J.A.; Lucena C.M.; Pacheco Cortegana E.M.; Pena J.C.; Redondo L.; Sanchez V.S.; Fernandez C.M.; Romero Lemos M.D.; Mata M.P.; Casado R.V.; Bosca M.; Burguera J.A.; Brugada F.C.; Millan Salvador J.M.; Vilaplana C.P.; Solis P.; Figuerola B.J.; Palanca P.M.; Diago E.B.; Lopez del Val J.; Martinez L.M.; Lopez E.; Wahlstrom+ J.; Hosterey-Ugander U.; Fredlund G.; Constantinescu R.; Lewin K.; Neleborn-Lingefjard L.; Berglund M.; Berglund P.; Linnsand P.; Petersen A.; Reimer J.; Widner H.; Esmaeilzadeh M.; Tedroff J.; Winnberg E.; Benaminov S.; Bjornsson E.; Merrick D.; Paucar M.; Palhagen S.; Svenningsson P.; Wallden T.; Berglund M.; Loutfi G.; Olofsson C.; Stattin E.-L.; Westman L.; Wikstrom B.; Ekwall C.; Goller M.-L.; Johansson A.; Niemela V.; Nyholm D.; Sundblom J.; Wiklund L.; Burgunder J.-M.; Koehli J.; Stebler Y.; Kaelin A.; Romero I.; Schupbach M.; Zaugg S.W.; Esposito F.; Good J.-M.; Paus K.; Vingerhoets F.; Wider+ C.; Jung H.H.; Petersen J.A.; Ligon-Auer M.; Mihaylova V.; Downie L.; Jack R.; Matheson K.; Miedzybrodzka Z.; Rae D.; Simpson S.A.; Summers F.; Ure A.; Vaughan V.; Harrower T.; Vernon N.; Akhtar S.; Crooks J.; Curtis A.; de Souza (Keylock) J.; Piedad J.; Rickards H.; Wright J.; Haig-Brown D.; Craven J.; Pallett A.; Simpson S.; Weekes R.; Coulthard E.; Gethin L.; Hayward B.; Sieradzan K.; Wright A.; Barker R.A.; O'Keefe D.; Gerrtiz (nee Di Pietro) A.; Fisher K.; Goodman A.; Hill S.; Mason S.; Swain R.; Guzman N.V.; Busse M.; Butcher C.; Callaghan J.; Dunnett S.; Clenaghan C.; Fullam R.; Hunt S.; Jones L.; Jones U.; Khalil H.; Minster S.; Owen M.; Price K.; Townhill J.; Rosser A.; Goudie D.; Buchanan L.; McFadyen P.; Tonner A.; Taylor A.-M.; Edwards M.; Ho C.; McGill M.; Porteous M.; Pearson P.; Harrower T.; Irvine S.; Brockie P.; Foster J.; Johns N.; McKenzie S.; Rothery J.; Thomas G.; Yates S.; Neumann C.; Patterson K.; Thomson D.; Deith C.; Ireland J.; Ritchie S.; Brown P.; Burrows L.; Fletcher A.; Harding A.; Harrison K.; Laver F.; Silva M.; Thomson A.; Chu C.; Evans C.; Gallentree D.; Hamer S.; Kraus A.; Markova I.; Raman A.; Rowett L.; Andrew A.; Frost J.; Noad R.; Cosgrove J.; Gallantree D.; Hamer S.; Hobson E.; Jamieson S.; Kraus A.; Longthorpe M.; Markova I.; Musgrave H.; Peacy C.; Raman A.; Rowett L.; Toscano J.; Wild S.; Yardumian P.; Clayton C.; Dipple H.; Freire-Patino D.; Hallam C.; Middleton J.; Alusi S.; Davies R.; Foy K.; Gerrans E.; Pate L.; Anjum U.; Coebergh J.; Eddy C.; Lahiri N.; McEntagart M.; Patton M.; Peterson M.; Rose S.; Andrews T.; Dougherty A.; Golding C.; Kavalier F.; Laing H.; Lashwood A.; Robertson D.; Ruddy D.; Santhouse A.; Whaite A.; Andrews T.; Gosling (nee Brown) S.; Bruno S.; Chu E.; Doherty K.; Golding C.; Haider S.; Hensman D.; Lahiri N.; Lewis M.; Novak M.; Patel A.; Robertson N.; Rosser E.; Tabrizi S.; Taylor R.; Warner T.; Wild E.; Ackermann O.; Duport S.; Scott A.; Stoy N.; Vaughn J.; Arran N.; Bek J.; Callaghan J.; Craufurd D.; Fullam R.; Hare M.; Howard L.; Huson S.; Johnson L.; Jones M.; Krishnamoorthy A.; Murphy H.; Oughton E.; Partington-Jones L.; Rogers D.; Sollom A.; Snowden J.; Stopford C.; Thompson J.; Trender-Gerhard I.; Verstraelen (formerly Ritchie) N.; Westmoreland L.; Cass G.; Davidson L.; Davison J.; Fullerton N.; Holmes K.; Komati S.; McDonnell S.; Mohammed Z.; Morgan K.; Savage L.; Singh B.; Wood J.; Chu E.; Knight C.; O'Neill M.; Purkayastha D.D.; Nemeth A.H.; Siuda G.; Valentine R.; Dixon K.; Armstrong R.; Harrison D.; Hughes M.; Large S.; Donovan J.O.; Palmer A.; Parkinson A.; Soltysiak B.; Timings L.; Williams J.; Burn J.; Weekes R.; Craven J.; Bailey W.; Coleman C.; Haig-Brown D.; Simpson S.; Hare M.; Majeed T.; Verstraelen (Ritchie) N.; Armstrong R.; Dixon K.; Barrett W.; Ho A.; Bandmann O.; Bradbury A.; Fairtlough H.; Fillingham K.; Foustanos I.; Gill P.; Kazoka M.; O'Donovan K.; Nevitt L.; Peppa N.; Quarrell O.; Taylor C.; Tidswell K.; Kipps C.; MacKinnon L.; Agarwal V.; Hayward E.; Gunner K.; Harris K.; Anderson M.; Heywood M.; Keys L.; Smalley S.; El-Nimr G.; Duffell A.; Wood S.; Kennedy (nee Smith) K.; Gowers L.; Powell K.; Bethwaite P.; Edwards R.; Fuller K.; Phillips M.; Tan L.; Burgunder J.-M.; Lau P.N.; Pica E.; Roos R.A./titolo:Clinical and genetic characteristics of late-onset Huntington's disease/doi:10.1016%2Fj.parkreldis.2018.11.009/rivista:Parkinsonism & related disorders/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume
Parkinsonism & Related Disorders, 61, 101-105. ELSEVIER SCI LTD
Parkinsonism and Related Disorders, 61, 101-105. ELSEVIER SCI LTD
Oosterloo, M, Bijlsma, E K, van Kuijk, S MJ, Minkels, F, de Die-Smulders, C EM, Bachoud-Lévi, A C, Bentivoglio, A R, Biunno, I, Bonelli, R M, Bronzova, J, Burgunder, J M, Dunnett, S B, Ferreira, J J, Frich, J, Giuliano, J, Handley, O J, Heiberg, A, Illarioshkin, S, Illmann, T, Klempir, J, Landwehrmeyer, G B, Levey, J, McLean, T, Nielsen, J E, Koivisto, S P, Päivärinta, M, Pålhagen, S, Quarrell, O, Ramos-Arroyo, M, Roos, R A C, Saft, C, Sebastián, A R, Tabrizi, S J, Vandenberghe, W, Verellen-Dumoulin, C, Uhrova, T, Wahlström+, J, Zaremba, J, (formerly Rödig, V B, Barth, K, Garde, M B, Becanovic, K, Bernard, T, Betz, S, Bos, R, Come, A, Guedes, L C, Callaghan, J, Capodarca, S, Wermuth, L, for the REGISTRY Investigators of the European Huntington's Disease Network, Registry Steering committee, Language coordinators & EHDN's associate site in Singapore 2019, ' Clinical and genetic characteristics of late-onset Huntington's disease ', Parkinsonism and Related Disorders, vol. 61, pp. 101-105 . https://doi.org/10.1016/j.parkreldis.2018.11.009
Parkinsonism & related disorders (2018). doi:10.1016/j.parkreldis.2018.11.009
info:cnr-pdr/source/autori:Oosterloo M.; Bijlsma E.K.; van Kuijk S.M.; Minkels F.; de Die-Smulders C.E.; Bachoud-Levi A.-C.; Bentivoglio A.-R.; Biunno I.; Bonelli R.M.; Bronzova J.; Burgunder J.-M.; Dunnett S.B.; Ferreira J.J.; Frich J.; Giuliano J.; Handley O.J.; Heiberg A.; Illarioshkin S.; Illmann T.; Klempir J.; Landwehrmeyer G.B.; Levey J.; McLean T.; Nielsen J.E.; Koivisto S.P.; Paivarinta M.; Palhagen S.; Quarrell O.; Ramos-Arroyo M.; Roos R.A.C.; Saft C.; Sebastian A.R.; Tabrizi S.J.; Vandenberghe W.; Verellen-Dumoulin C.; Uhrova T.; Wahlstrom+ J.; Zaremba J.; (formerly Rodig V.B.; Barth K.; Garde M.B.; Becanovic K.; Bernard T.; Betz S.; Bos R.; Come A.; Guedes L.C.; Callaghan J.; Capodarca S.; Charpentier S.; Vieira da Silva W.; Di Renzo M.; Ecker D.; Finisterra A.M.; Fullam R.; Genoves C.; Gilling M.; Handley O.J.; Horta A.; Hvalstedt C.; Held C.; Hussain H.; Koppers K.; Lamanna C.; Laura M.; Descals A.M.; Martinez-Horta S.; Mestre T.; Minster S.; Monza D.; Munkel K.; Mutze L.; Oehmen M.; Padieu H.; Paterski L.; Peppa N.; Koivisto S.P.; Rindal B.; Rogers D.; Roren (formerly Heinonen) N.; Salgueiro A.; Sasinkova P.; Seliverstov Y.; Taylor C.; Timewell E.; Townhill J.; Cubillo P.T.; van Walsem M.R.; Witjes-Ane M.-N.; Witkowski G.; Wright A.; Yudina E.; Zielonka D.; Zielonka E.; Zinzi P.; Bonelli R.M.; Hecht K.; Herranhof B.; Holl (formerly Hodl) A.; Kapfhammer H.-P.; Koppitz M.; Lilek S.; Magnet M.; Muller N.; Otti D.; Painold A.; Reisinger K.; Scheibl M.; Schoggl H.; Ullah J.; Braunwarth E.-M.; Brugger F.; Buratti L.; Hametner E.-M.; Hepperger C.; Holas C.; Hotter A.; Hussl A.; Larcher B.; Mahlknecht P.; Muller C.; Pinter B.; Poewe W.; Reiter E.-M.; Seppi K.; Sprenger F.; Wenning G.; Bonelli R.M.; Ladurner G.; Lilek S.; Sinadinosa D.; Staffen W.; Walleczek A.M.; Linder C.; Pirker W.; Liessens D.; Calmeyn G.; Somers N.; Delvaux I.; Boogaerts A.; Flamez A.; de Raedt S.; Alaerts N.; Slama H.; Supiot F.; Constant E.; Gillardin A.-F.; Leonard M.-C.; Verellen-Dumoulin C.; van de Wyngaerde F.; Dupuis M.; Minet C.; Ribai P.; Van Paemel D.; Verellen-Dumoulin C.; Boogaerts A.; Vandenberghe W.; van Reijen D.; Weckx P.; Kaiserova M.; Senkarova Z.; Bezdicek O.; Klempir J.; Klempirova O.; Majerova-Ibarburu V.; Nikolai T.; Roth J.; Starkova I.; Madsen L.H.; Moller A.T.; Hjermind L.; Jacobsen O.; Larsen I.U.; Lindquist S.; Nielsen J.; Regeur L.; Roos P.; Stockholm J.; Vangsted-Hansen C.; Vinther-Jensen T.; Lolk A.; Lundsgaard M.; Wermuth L.; Andersson C.; Nyberg C.; Sundblom J.; Peippo M.; Sipponen M.; Bruun A.; Hartikainen P.; Makipaa S.; Ollokainen M.; Aman J.; Karppa M.; Ignatius J.; Jaaskelainen O.; Kajula O.; Moilanen J.; Mustonen A.; Santala M.; Eklund P.; Hiivola H.; Hypponen H.; Martikainen K.; Ojala M.; Tahkapaa S.; Tuuha K.; Allain P.; Bonneau D.; Bost M.; Gohier B.; Guerid M.-A.; Olivier A.; Prouzet J.; Prundean A.; Scherer-Gagou C.; Verny C.; Babiloni B.; Bled D.; Debruxelles S.; Duche C.; Fraisse S.; Goizet C.; Jameau L.; Lafoucriere D.; Spampinato U.; Couttier J.; Debilly B.; Delaigue C.; Derost P.; Durif F.; Germain V.; Legendre P.; Loiseau S.; Marques A.; Ulla M.; Vidal T.; Bachoud-Levi A.-C.; Badei F.; Boisse M.-F.; Boudali L.; Cleret de Langavant L.; Lemoine L.; Morgado G.; Youssov K.; Annic A.; Barthelemy R.; De Bruycker C.; Cabaret M.; Carette A.-S.; Carriere N.; Decorte E.; Defebvre L.; Delliaux M.; Delval A.; Depelchin A.; Destee A.; Dewulf-Pasz N.; Dondaine T.; Dugauquier F.; Dujardin K.; Hopes L.; Krystkowiak P.; Lemaire M.-H.; Manouvrier S.; Mutez E.; Peter M.; Plomhause L.; Sablonniere B.; Simonin C.; Tard C.; Thibault-Tanchou S.; Vuillaume I.; Bellonet M.; Blin S.; Chen S.; Krystkowiak P.; Masmoudi K.; Morin G.; Roussel M.; Tir M.; Schuler B.; Wannepain S.; Zouitina Y.; Azulay J.-P.; Delfini M.; Eusebio A.; Fluchere F.; Guenam A.; Mundler L.; Nguyen K.; Benaich S.; Brice A.; Boster S.; Charles P.; Durr A.; Ewenczyk C.; Francisque H.; Jauffret C.; Justo D.; Kassar A.; Klebe S.; Lesne F.; Milani P.; Monin M.-L.; Monnier T.; Roze E.; Tataru A.; Tchikviladze M.; Bioux S.; Bliaux E.; Girard C.; Guyant-Marechal L.; Hannequin D.; Hannier V.; Jourdain S.; Maltete D.; Pouliquen D.; Anheim M.; Barun N.; Lagha-Boukbiza O.; Longato N.; Marcel C.; Phillipps C.; Rudolf G.; Steinmetz G.; Tranchant C.; Wagner C.; Zimmermann M.-A.; Blondeau L.; Calvas F.; Cheriet S.; Delabaere H.; Demonet J.-F.; Marquine L.; Pariente J.; Pierre M.; Pomies E.; Rolland S.; Souyris C.; Kosinski C.M.; Milkereit E.; Probst D.; Reetz K.; Sass C.; Schiefer J.; Schlangen C.; Werner C.J.; Beuth M.; Gelderblom H.; Priller J.; Pruss H.; Spruth E.; Thiel S.; Andrich J.; Ellrichmann G.; Herrmann L.; Hoffmann R.; Kaminski B.; Kraus P.; Saft C.; Stamm C.; Ganos C.; Stubbe L.; Tadic V.; Tubing J.; Lange H.; Bosredon C.; Hunger U.; Lohle M.; Maass A.; Ossig C.; Schmidt S.; Storch A.; Wolz A.; Wolz M.; Kohl Z.; Kozay C.; Ullah J.; Winkler J.; Bergmann U.; Boringer R.; Capetian P.; Kammel G.; Lambeck J.; Machtel M.; Meier S.; Rijntjes M.; Zucker B.; Boelmans K.; Ganos C.; Goerendt I.; Heinicke W.; Hidding U.; Lewerenz J.; Munchau A.; Orth M.; Schmalfeld J.; Stubbe L.; Zittel S.; Diercks G.; Dressler D.; Francis F.; Gayde-Stephan S.; Gorzolla H.; Kramer B.; Minschke R.; Schrader C.; Tacik P.; Ribbat+ M.; Longinus B.; Moller C.; Burk K.; Lusebrink A.; Muhlau M.; Peinemann A.; Stadtler M.; Weindl A.; Winkelmann J.; Ziegler C.; Bechtel N.; Beckmann H.; Bohlen S.; Gopfert N.; Holzner E.; Lange H.; Reilmann R.; Rohm S.; Rumpf S.; Sass C.; Schepers S.; Weber N.; Bachmeier M.; Dose M.; Hofstetter N.; Marquard R.; Muhlback A.; Barth K.; Buck A.; Connemann J.; Ecker D.; Geitner C.; Held C.; Kesse A.; Landwehrmeyer B.; Lezius F.; Lewerenz J.; Nepper S.; Niess A.; Orth M.; Schneider A.; Schwenk D.; Sussmuth S.; Trautmann S.; Vogel M.; Weydt P.; Klebe S.; Musacchio T.; Leypold C.; Noth K.; Cormio C.; Difruscolo O.; Franco G.; Nuzzi A.; Sciruicchio V.; Serpino C.; de Tommaso M.; Calandra-Buonaura G.; Capellari S.; Cortelli P.; Gallassi R.; Poda R.; Scaglione C.; Agosti C.; Barlati S.; Compostella S.; Marchina E.; Padovani A.; Figorilli M.; Marrosu F.; Muroni A.; Piras V.; Vacca M.; Bertini E.; Bartoli C.; Fortunato F.; Ghelli E.; Ginestroni A.; Mechi C.; Paganini M.; Piacentini S.; Pradella S.; Romoli A.M.; Sorbi S.; Abbruzzese G.; Bandettini di Poggio M.; Ferrandes G.; Mandich P.; Marchese R.; Di Maria E.; Tamburini T.; Albanese A.; Castagliuolo S.; Castaldo A.; Di Donato S.; Di Bella D.; Gellera C.; Genitrini S.; Mariotti C.; Monza D.; Nanetti L.; Panzeri M.; Paridi D.; Soliveri P.; Spagnolo F.; Taroni F.; Tomasello C.; De Michele G.; Di Maio L.; Rinaldi C.; Massarelli M.; Peluso S.; Roca A.; Russo C.V.; Salvatore E.; Sorrentino P.; Tucci T.; Cannella M.; Codella V.; De Gregorio F.; De Nicola A.; Elifani F.; Esposito C.; Martino T.; Mazzante I.; Petrollini M.; Simonelli M.; Vezza M.; Squitieri F.; D'Alessio B.; Lovo F.; Bentivoglio A.R.; Bove F.; Catalli C.; Di Giacopo R.; Fasano A.; Frontali M.; Guidubaldi A.; Ialongo T.; Jacopini G.; Loria G.; Modoni A.; Petracca M.; Piano C.; Chiara P.; Quaranta D.; Romano S.; Soleti F.; Solito M.; Spadaro M.; Torlizzi F.; Zinzi P.; Coarelli G.; Ferraldeschi M.; Frontali M.; Jacopini G.; Ristori G.; Romano S.; Zinzi P.; van Hout M.S.E.; van Vugt J.P.P.; Marit de Weert A.; Verhoeven M.; Dekker M.; Klooster J.; Leenders N.; van Oostrom J.; Kremer B.; Baake V.; van den Bogaard S.J.A.; Bos R.; Dumas E.M.; t Hart E.P.; Hogenboom M.; Jacobs M.; Jurgens C.; Kampstra A.; Roos R.A.C.; Schoonderbeek A.; Witjes-Ane M.-N.; Duits A.; Oosterloo M.; Waber M.; Kremer B.; Verstappen C.; Blinkenberg E.O.; Hauge E.; Tyvoll H.; Aaserud O.; Aanonsen N.O.; Bjorgo K.; Borgerod N.; Dramstad E.; Fannemel M.; Frich J.C.; Gorvell P.F.; Haggag K.; Johannessen C.H.; Heiberg A.; Retterstol L.; Rosby O.; Rummel J.; Sikiric A.; Stokke B.; van Walsem M.; Wehus R.; Arntsen V.; Bjornevoll I.; Sando S.B.; Haug M.G.; Storseth H.H.; Ostern R.; Paulsen J.; Dziadkiewicz A.; Konkel A.; Narozanska E.; Nowak M.; Robowski P.; Sitek E.; Slawek J.; Soltan W.; Szinwelski M.; Arkuszewski M.; Blaszczyk M.; Boczarska-Jedynak M.; Ciach-Wysocka E.; Gorzkowska A.; Jasinska-Myga B.; Kaczmarczyk A.; Klodowska-Duda G.; Opala G.; Rudzinska M.; Stompel D.; Banaszkiewicz K.; Bocwinska D.; Bojakowska-Jaremek K.; Dec M.; Grabska N.; Krawczyk M.; Kubowicz E.; Malec-Litwinowicz M.; Rudzinska M.; Stenwak A.; Szczudlik A.; Szczygiel E.; Wojcik M.; Wasielewska A.; Anna Bryl J.A.; Ciesielska A.; Klimberg A.; Marcinkowski J.; Samara H.; Sempolowicz J.; Wisniewski B.; Zielonka D.; Gogol (formerly Kalbarczyk) A.; Janik P.; Jamrozik Z.; Kaminska A.; Kwiecinski+ H.; Antczak J.; Jachinska K.; Krysa W.; Rakowicz M.; Rola R.; Ryglewicz D.; Sienkiewicz-Jarosz H.; Stepniak I.; Sulek A.; Witkowski G.; Zaremba J.; Zdzienicka E.; Ziora-Jakutowicz K.; Januario C.; Julio F.; Almeida M.; Calado A.; Dias M.; Morgado J.; Semedo C.; Guedes L.C.; Coelho M.; Ferreira J.J.; Magalhaes A.; Mestre T.; Mendes T.; Neutel D.; Rodrigues F.; Valadas A.; Costa C.; Cardoso H.; Mendes T.; Santos M.; Cacao G.; Cavaco S.; Damasio J.; Fernandes J.; Goncalves A.; Loureiro R.; Moreira I.; Magalhaes M.; Salgado P.; Andrade C.; Costa A.; Garrett C.; Gago M.; Guimaraes J.; Massano J.; Meireles J.; Monteiro A.; Khasanova D.; Zalyalova Z.; Illarioshkin S.; Klyushnikov S.; Sidorova O.; Smirnov O.; Yudina E.; Seliverstov Y.; Antonova V.; Kopishinskaya S.; Korotysh M.; Magzhanov R.; Saifullina E.; Kurbatov S.; Solis P.; Herrera C.D.; Moreno P.G.; Bas J.; Busquets N.; Calopa M.; Classen S.J.; Dedicha N.R.; Buongiorno M.T.; Maria A.D.L.C.S.; Munoz E.; Santacruz P.; Barbera M.A.; Sebastian A.R.; Pardo S.A.; Guia D.B.; Calzado N.; Hernanz L.C.; Tartari Diaz-Zorita J.P.; Catena J.L.; Ferrer P.Q.; Carruesco G.T.; Robert M.F.; Viladrich C.M.; Roca E.; Ruiz Idiago J.M.; Riballo A.V.; Campolongo A.; Fernandez de Bobadilla R.; Horta A.; Bojarsky J.K.; Martinez-Horta S.; Pagonabarraga J.; Perez J.P.; Ribosa R.; Villa C.; Acera Gil M.A.; Corrales K.B.; Gomez Esteban J.C.; Gonzalez A.; Merino B.T.; Cubo E.; Polo C.G.; Mariscal N.; Sanchez J.; Romero S.G.; Arbelo J.M.; Malo de Molina R.; Martin I.; Perianez J.M.; Udaeta B.; Alonso-Frech F.; Loarte M.D.V.; Barrero F.; Morales B.; Frades B.; Villanueva M.A.; Zea Sevilla M.A.; Fenollar M.D.M.; Garcia-Ramos Garcia R.; Villanueva C.; Bascunana M.; Ventura M.F.; Caldentey J.G.; Ribas G.G.; Garcia de Yebenes J.; Lopez-Sendon Moreno J.L.; Barral V.M.; Cubillo P.T.; Feliz C.; Garcia Ruiz P.J.; Garcia A.; Caldentey J.G.; Lopez R.G.; Barcenas A.H.; Martinez-Descals A.; Pueyo A.M.; Martin V.P.; Martinez N.R.; Montojo T.; Sainz Artiga M.J.; Sanchez V.; Alarcon M.D.; Almagro C.A.; Dieguez E.; Fortuna L.; Legaz A.; Manzanares S.; Munoz J.M.; Antequera Torres M.M.; Perea F.N.; Vivancos L.; Gonzalez S.; Guisasola L.M.; Prieto M.P.; Ribacoba R.; Salvador C.; Lozano P.S.; Caldentey J.G.; Ramirez I.L.; Benito D.M.; Arques P.N.; Lopera M.R.; Pastor B.V.; Gaston I.; Garcia-Amigot F.; Martinez-Jaurrieta M.D.; Ramos-Arroyo M.A.; Adarmes A.; Bernal-Escudero M.; Carrillo F.; Jesus S.; Mir P.; Vargas-Gonzalez L.; Hermoso F.D.; Garcia Moreno J.M.; Jaramillo J.A.; Lucena C.M.; Pacheco Cortegana E.M.; Pena J.C.; Redondo L.; Sanchez V.S.; Fernandez C.M.; Romero Lemos M.D.; Mata M.P.; Casado R.V.; Bosca M.; Burguera J.A.; Brugada F.C.; Millan Salvador J.M.; Vilaplana C.P.; Solis P.; Figuerola B.J.; Palanca P.M.; Diago E.B.; Lopez del Val J.; Martinez L.M.; Lopez E.; Wahlstrom+ J.; Hosterey-Ugander U.; Fredlund G.; Constantinescu R.; Lewin K.; Neleborn-Lingefjard L.; Berglund M.; Berglund P.; Linnsand P.; Petersen A.; Reimer J.; Widner H.; Esmaeilzadeh M.; Tedroff J.; Winnberg E.; Benaminov S.; Bjornsson E.; Merrick D.; Paucar M.; Palhagen S.; Svenningsson P.; Wallden T.; Berglund M.; Loutfi G.; Olofsson C.; Stattin E.-L.; Westman L.; Wikstrom B.; Ekwall C.; Goller M.-L.; Johansson A.; Niemela V.; Nyholm D.; Sundblom J.; Wiklund L.; Burgunder J.-M.; Koehli J.; Stebler Y.; Kaelin A.; Romero I.; Schupbach M.; Zaugg S.W.; Esposito F.; Good J.-M.; Paus K.; Vingerhoets F.; Wider+ C.; Jung H.H.; Petersen J.A.; Ligon-Auer M.; Mihaylova V.; Downie L.; Jack R.; Matheson K.; Miedzybrodzka Z.; Rae D.; Simpson S.A.; Summers F.; Ure A.; Vaughan V.; Harrower T.; Vernon N.; Akhtar S.; Crooks J.; Curtis A.; de Souza (Keylock) J.; Piedad J.; Rickards H.; Wright J.; Haig-Brown D.; Craven J.; Pallett A.; Simpson S.; Weekes R.; Coulthard E.; Gethin L.; Hayward B.; Sieradzan K.; Wright A.; Barker R.A.; O'Keefe D.; Gerrtiz (nee Di Pietro) A.; Fisher K.; Goodman A.; Hill S.; Mason S.; Swain R.; Guzman N.V.; Busse M.; Butcher C.; Callaghan J.; Dunnett S.; Clenaghan C.; Fullam R.; Hunt S.; Jones L.; Jones U.; Khalil H.; Minster S.; Owen M.; Price K.; Townhill J.; Rosser A.; Goudie D.; Buchanan L.; McFadyen P.; Tonner A.; Taylor A.-M.; Edwards M.; Ho C.; McGill M.; Porteous M.; Pearson P.; Harrower T.; Irvine S.; Brockie P.; Foster J.; Johns N.; McKenzie S.; Rothery J.; Thomas G.; Yates S.; Neumann C.; Patterson K.; Thomson D.; Deith C.; Ireland J.; Ritchie S.; Brown P.; Burrows L.; Fletcher A.; Harding A.; Harrison K.; Laver F.; Silva M.; Thomson A.; Chu C.; Evans C.; Gallentree D.; Hamer S.; Kraus A.; Markova I.; Raman A.; Rowett L.; Andrew A.; Frost J.; Noad R.; Cosgrove J.; Gallantree D.; Hamer S.; Hobson E.; Jamieson S.; Kraus A.; Longthorpe M.; Markova I.; Musgrave H.; Peacy C.; Raman A.; Rowett L.; Toscano J.; Wild S.; Yardumian P.; Clayton C.; Dipple H.; Freire-Patino D.; Hallam C.; Middleton J.; Alusi S.; Davies R.; Foy K.; Gerrans E.; Pate L.; Anjum U.; Coebergh J.; Eddy C.; Lahiri N.; McEntagart M.; Patton M.; Peterson M.; Rose S.; Andrews T.; Dougherty A.; Golding C.; Kavalier F.; Laing H.; Lashwood A.; Robertson D.; Ruddy D.; Santhouse A.; Whaite A.; Andrews T.; Gosling (nee Brown) S.; Bruno S.; Chu E.; Doherty K.; Golding C.; Haider S.; Hensman D.; Lahiri N.; Lewis M.; Novak M.; Patel A.; Robertson N.; Rosser E.; Tabrizi S.; Taylor R.; Warner T.; Wild E.; Ackermann O.; Duport S.; Scott A.; Stoy N.; Vaughn J.; Arran N.; Bek J.; Callaghan J.; Craufurd D.; Fullam R.; Hare M.; Howard L.; Huson S.; Johnson L.; Jones M.; Krishnamoorthy A.; Murphy H.; Oughton E.; Partington-Jones L.; Rogers D.; Sollom A.; Snowden J.; Stopford C.; Thompson J.; Trender-Gerhard I.; Verstraelen (formerly Ritchie) N.; Westmoreland L.; Cass G.; Davidson L.; Davison J.; Fullerton N.; Holmes K.; Komati S.; McDonnell S.; Mohammed Z.; Morgan K.; Savage L.; Singh B.; Wood J.; Chu E.; Knight C.; O'Neill M.; Purkayastha D.D.; Nemeth A.H.; Siuda G.; Valentine R.; Dixon K.; Armstrong R.; Harrison D.; Hughes M.; Large S.; Donovan J.O.; Palmer A.; Parkinson A.; Soltysiak B.; Timings L.; Williams J.; Burn J.; Weekes R.; Craven J.; Bailey W.; Coleman C.; Haig-Brown D.; Simpson S.; Hare M.; Majeed T.; Verstraelen (Ritchie) N.; Armstrong R.; Dixon K.; Barrett W.; Ho A.; Bandmann O.; Bradbury A.; Fairtlough H.; Fillingham K.; Foustanos I.; Gill P.; Kazoka M.; O'Donovan K.; Nevitt L.; Peppa N.; Quarrell O.; Taylor C.; Tidswell K.; Kipps C.; MacKinnon L.; Agarwal V.; Hayward E.; Gunner K.; Harris K.; Anderson M.; Heywood M.; Keys L.; Smalley S.; El-Nimr G.; Duffell A.; Wood S.; Kennedy (nee Smith) K.; Gowers L.; Powell K.; Bethwaite P.; Edwards R.; Fuller K.; Phillips M.; Tan L.; Burgunder J.-M.; Lau P.N.; Pica E.; Roos R.A./titolo:Clinical and genetic characteristics of late-onset Huntington's disease/doi:10.1016%2Fj.parkreldis.2018.11.009/rivista:Parkinsonism & related disorders/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume
Parkinsonism & Related Disorders, 61, 101-105. ELSEVIER SCI LTD
Parkinsonism and Related Disorders, 61, 101-105. ELSEVIER SCI LTD
Oosterloo, M, Bijlsma, E K, van Kuijk, S MJ, Minkels, F, de Die-Smulders, C EM, Bachoud-Lévi, A C, Bentivoglio, A R, Biunno, I, Bonelli, R M, Bronzova, J, Burgunder, J M, Dunnett, S B, Ferreira, J J, Frich, J, Giuliano, J, Handley, O J, Heiberg, A, Illarioshkin, S, Illmann, T, Klempir, J, Landwehrmeyer, G B, Levey, J, McLean, T, Nielsen, J E, Koivisto, S P, Päivärinta, M, Pålhagen, S, Quarrell, O, Ramos-Arroyo, M, Roos, R A C, Saft, C, Sebastián, A R, Tabrizi, S J, Vandenberghe, W, Verellen-Dumoulin, C, Uhrova, T, Wahlström+, J, Zaremba, J, (formerly Rödig, V B, Barth, K, Garde, M B, Becanovic, K, Bernard, T, Betz, S, Bos, R, Come, A, Guedes, L C, Callaghan, J, Capodarca, S, Wermuth, L, for the REGISTRY Investigators of the European Huntington's Disease Network, Registry Steering committee, Language coordinators & EHDN's associate site in Singapore 2019, ' Clinical and genetic characteristics of late-onset Huntington's disease ', Parkinsonism and Related Disorders, vol. 61, pp. 101-105 . https://doi.org/10.1016/j.parkreldis.2018.11.009
Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical chara
Publikováno v:
In Inorganica Chimica Acta 2009 362(15):5237-5244
Publikováno v:
Clinical Medicine. Feb2018, Vol. 18 Issue 1, p88-92. 5p.
Autor:
Rose, Sarah
Transactions of the Cumberland & Westmorland Antiquarian & Archaeological Society, 15, 45-56
This article has been developed from a guidance paper written for volunteer researchers working on the Victoria County History (VCH) of Cumbria project.
This article has been developed from a guidance paper written for volunteer researchers working on the Victoria County History (VCH) of Cumbria project.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2dccb92bbc81a2fd8f7177c89556b12
Autor:
Iravani, Mahmoud M., Sadeghian, Mona, Leung, Clement C.M., Tel, Banu C., Rose, Sarah, Schapira, Anthony H., Jenner, Peter
Publikováno v:
In Experimental Neurology 2008 212(2):522-531