Zobrazeno 1 - 10
of 142
pro vyhledávání: '"Rosser, Elisabeth"'
Autor:
Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Konstantino, Monica, Leach, Meganne E., McCormick, David, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., Lakhani, Saquib A.
Publikováno v:
In Genetics in Medicine February 2024 26(2)
Autor:
McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James *, Hagelstrom, R Tanner *, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J **, Tucci, Arianna *
Publikováno v:
In The Lancet Neurology March 2022 21(3):234-245
Autor:
Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A., Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza (Keylock), Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O’Keefe, Deidre, Gerrtiz (nee Di Pietro), Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Callaghan, Jenny, Dunnett, Stephen, Clenaghan, Catherine, Fullam, Ruth, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, McFadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, McGill, Marie, Porteous, Mary, Pearson, Pauline, Harrower, Timothy, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, 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, 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, Rogers, Dawn, 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, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Burn, John, Weekes, Rebecca, Craven, Janet, Bailey, Wendy, Coleman, Caroline, Haig-Brown, Diane, Simpson, Steve, Majeed, Tahir, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Ho, Aileen, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O’Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Kipps, Christopher, MacKinnon, Lesley, Agarwal, Veena, Hayward, Elaine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Heywood, Melanie, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Wood, Sue, Kennedy (nee Smith), Karen, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Bucher, Walter, de Schepper, Beatrice, Eden, John, Hendrikx, Victor, Hughes, Alis, King, Diana, Kleibrink, Ursula, Kuttruff-Wilschut, Rita, Lenon-Bird, Anne, Lohkamp, Christiane, Perrousseaux, Marie-Odile, Martinez, Asuncion, Rapaille, Lilliane, Santini, Helen, Sasinkova, Pavla, Soltysiak, Beverley, Smith, Steve, van der Leer, Hans, van der Meer, Lucienne, Wooldridge, Michael, Zinzi, Paola, Ho, Aileen K., Horton, Mike C., Landwehrmeyer, G. Bernhard, Burgunder, Jean-Marc, Tennant, Alan
Publikováno v:
In Value in Health June 2019 22(6):712-720
Autor:
Rubinsztein, David C., Leggo, Jayne, Chiano, Mathias, Dodge, Alan, Norbury, Gail, Rosser, Elisabeth, Craufurd, David
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1997 Apr . 94(8), 3872-3876.
Externí odkaz:
https://www.jstor.org/stable/41922
Autor:
Jurkute, Neringa, Bertacchi, Michele, Arno, Gavin, Tocco, Chiara, Kim, Ungsoo Samuel, Kruszewski, Adam M, Avery, Robert A, Bedoukian, Emma C, Han, Jinu, Ahn, Sung Jun, Pontikos, Nikolas, Acheson, James, Davagnanam, Indran, Bowman, Richard, Kaliakatsos, Marios, Gardham, Alice, Wakeling, Emma, Oluonye, Ngozi, Reddy, Maddy Ashwin, Clark, Elaine, Rosser, Elisabeth, Amati-Bonneau, Patrizia, Charif, Majida, Lenaers, Guy, Meunier, Isabelle, Defoort, Sabine, Vincent-Delorme, Catherine, Robson, Anthony G, Holder, Graham E, Jeanjean, Luc, Martinez-Monseny, Antonio, Vidal-Santacana, Mariona, Dominici, Chloé, Gaggioli, Cedric, Giordano, Nadia, Caleo, Matteo, Liu, Grant T, Genomics England Research Consortium, Webster, Andrew R, Studer, Michèle, Yu-Wai-Man, Patrick
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cellula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b46fdc600ad4c435bc6b53b70ed9835
Akademický článek
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Autor:
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. C., Saft, Carsten, Sebastián, Ana Rojo, Tabrizi, Sarah J., Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström+, Jan, Zaremba, Jacek (formerly Rödig, Verena, Baake, Barth, Katrin, Garde, Monica Bascuñana, Becanovic, Kristina, Bernard, Tomáš, Betz, Sabrina, Bos, Reineke, Come, Adrien, Guedes, Leonor Correia, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Horta, Andrea, Hvalstedt, Carina, Held, Christine, Hussain, Hasina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren (formerly Heinonen), Niini, Salgueiro, Ana, Šašinková, Pavla, Seliverstov, Yury, Taylor, Catherine, Timewell, Erika, Townhill, 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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Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Anheim, Mathieu, Barun, Nadia, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Gisèle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-François, Marquine, Laurent, Pariente, Jérémie, Pierre, Michèle, Pomies, Elsa, Rolland, Sandrine, Souyris, Corinne, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Beuth, Markus, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Stamm, Christiane, Ganos, Christos, Stubbe, Lars, Tadic, Vera, Tübing, Jennifer, Lange, Herwig, Bosredon, 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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, Louise, Taylor, Cat, Tidswell, Katherine, Kipps, Christopher, Mackinnon, Lesley, Agarwal, Veena, Hayward, Elaine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Heywood, Melanie, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Wood, Sue, Kennedy (nee Smith), Karen, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Louis, Lau, Puay Ngoh, Pica, Emmanuel, Roos, Raymund AC.
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.; 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
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
Autor:
Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publikováno v:
DDD Study 2019, ' Author Correction : CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language ', Nature Communications, vol. 10, no. 1, pp. 883 . https://doi.org/10.1038/s41467-019-08800-2, https://doi.org/10.1038/s41467-019-10161-9
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Nature Communications
An Author Correction to this article was published on 15 February 2019 An Author Correction to this article was published on 02 May 2019 We thank all individuals and families for their contribution. We thank Amaia Carrion Castillo and Else Eising for
Publikováno v:
BMJ: British Medical Journal, 1999 May 01. 318(7193), 1289-1289.
Externí odkaz:
https://www.jstor.org/stable/25184591
Autor:
Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Kumar, V.K.Ajith, Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana
Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfeb11bdc3048d72d0ca00dd9a5d5c49