المؤلفون: Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi

مصطلحات موضوعية: FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7934r86tTest
https://escholarship.org/content/qt7934r86t/qt7934r86t.pdfTest

المؤلفون: Yau, Wai Yan, Ashton, Catherine, Mulroy, Eoin, Foltynie, Thomas, Limousin, Patricia, Vandrovcova, Jana, Verma, Kunal P, Stell, Rick, Davis, Mark, Lamont, Phillipa

المصدر: Annals of Clinical and Translational Neurology (2024) (In press).

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10192451/1/Ann%20Clin%20Transl%20Neurol%20-%202024%20-%20Yau%20-%20POLR3A%20related%20disorders.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10192451Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10192451/1/Ann%20Clin%20Transl%20Neurol%20-%202024%20-%20Yau%20-%20POLR3A%20related%20disorders.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10192451Test/

المؤلفون: Ashton, Catherine, Indelicato, Elisabetta, Pellerin, David, Clément, Guillemette, Danzi, Matt C, Dicaire, Marie-Josée, Bonnet, Céline, Houlden, Henry, Züchner, Stephan, Synofzik, Matthis, Lamont, Phillipa J, Renaud, Mathilde, Boesch, Sylvia, Brais, Bernard

المصدر: Brain Communications , 5 (5) , Article fcad239. (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10177609/1/fcad239.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10177609Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10177609/1/fcad239.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10177609Test/

المؤلفون: Pellerin, David, Danzi, Matt C, Wilke, Carlo, Renaud, Mathilde, Fazal, Sarah, Dicaire, Marie-Josée, Scriba, Carolin K, Ashton, Catherine, Yanick, Christopher, Beijer, Danique, Rebelo, Adriana, Rocca, Clarissa, Jaunmuktane, Zane, Sonnen, Joshua A, Larivière, Roxanne, Genís, David, Molina Porcel, Laura, Choquet, Karine, Sakalla, Rawan, Provost, Sylvie, Robertson, Rebecca, Allard-Chamard, Xavier, Tétreault, Martine, Reiling, Sarah J, Nagy, Sara, Nishadham, Vikas, Purushottam, Meera, Vengalil, Seena, Bardhan, Mainak, Nalini, Atchayaram, Chen, Zhongbo, Mathieu, Jean, Massie, Rami, Chalk, Colin H, Lafontaine, Anne-Louise, Evoy, François, Rioux, Marie-France, Ragoussis, Jiannis, Boycott, Kym M, Dubé, Marie-Pierre, Duquette, Antoine, Houlden, Henry, Ravenscroft, Gianina, Laing, Nigel G, Lamont, Phillipa J, Saporta, Mario A, Schüle, Rebecca, Schöls, Ludger, La Piana, Roberta, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard

المصدر: New England Journal of Medicine , 388 pp. 128-141. (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10162059Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10162059Test/

المؤلفون: Scriba, Carolin K, Stevanovski, Igor, Chintalaphani, Sanjog R, Gamaarachchi, Hasindu, Ghaoui, Roula, Ghia, Darshan, Henderson, Robert D, Jordan, Nerissa, Winkel, Antony, Lamont, Phillipa J, Rodrigues, Miriam J, Roxburgh, Richard H, Weisburd, Ben, Laing, Nigel G, Deveson, Ira W

مصطلحات موضوعية: Clinical sciences, Neurosciences, Biological psychology, ataxia, CANVAS, RFC1, sensory neuropathy, STR

العلاقة: Brain Communications; Scriba, CK; Stevanovski, I; Chintalaphani, SR; Gamaarachchi, H; Ghaoui, R; Ghia, D; Henderson, RD; Jordan, N; Winkel, A; Lamont, PJ; Rodrigues, MJ; Roxburgh, RH; Weisburd, B; Laing, NG; Deveson, IW; Davis, MR; Ravenscroft, G, RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics, Brain Communications, 2023, 5 (4), pp. fcad208; http://hdl.handle.net/10072/425696Test

الإتاحة: https://doi.org/10.1093/braincomms/fcad208Test
http://hdl.handle.net/10072/425696Test

المؤلفون: McLeish, Emily, Sooda, Anuradha, Slater, Nataliya, Kachigunda, Barbara, Beer, Kelly, Paramalingam, Shereen, Lamont, Phillipa J., Chopra, Abha, Mastaglia, Frank Louis, Needham, Merrilee, Coudert, Jerome David

المصدر: Frontiers in Immunology ; volume 14 ; ISSN 1664-3224

الإتاحة: https://doi.org/10.3389/fimmu.2023.1153789Test

المؤلفون: Parmar, Jevin M., McNamara, Elyshia L., Lamont, Phillipa J., Kumar, Kishore R., Rick, Audrey, Stoll, Marion, Pak Leng Cheong, Ravenscroft, Gianina

المصدر: Neurology: Genetics; Jun2024, Vol. 10 Issue 3, p1-6, 6p

المؤلفون: Pellerin, David, Del Gobbo, Giulia F., Couse, Madeline, Dolzhenko, Egor, Nageshwaran, Sathiji K., Cheung, Warren A., Xu, Isaac R. L., Dicaire, Marie-Josée, Spurdens, Guinevere, Matos-Rodrigues, Gabriel, Stevanovski, Igor, Scriba, Carolin K., Rebelo, Adriana, Roth, Virginie, Wandzel, Marion, Bonnet, Céline, Ashton, Catherine, Agarwal, Aman, Peter, Cyril, Hasson, Dan, Tsankova, Nadejda M., Dewar, Ken, Lamont, Phillipa J., Laing, Nigel G., Renaud, Mathilde, Houlden, Henry, Synofzik, Matthis, Usdin, Karen, Nussenzweig, Andre, Napierala, Marek, Chen, Zhao, Jiang, Hong, Deveson, Ira W., Ravenscroft, Gianina, Akbarian, Schahram, Eberle, Michael A., Boycott, Kym M., Pastinen, Tomi, Brais, Bernard, Zuchner, Stephan, Danzi, Matt C.

المصدر: Nature Genetics; July 2024, Vol. 56 Issue: 7 p1366-1370, 5p

المؤلفون: Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi, Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia

مصطلحات موضوعية: FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY

وصف الملف: application/pdf

العلاقة: qt7934r86t; https://escholarship.org/uc/item/7934r86tTest

الإتاحة: https://escholarship.org/uc/item/7934r86tTest

المؤلفون: Dashnow, Harriet, Pedersen, Brent S., Hiatt, Laurel, Brown, Joe, Beecroft, Sarah J., Ravenscroft, Gianina, LaCroix, Amy J., Lamont, Phillipa, Roxburgh, Richard H., Rodrigues, Miriam J., Davis, Mark, Mefford, Heather C., Laing, Nigel G., Quinlan, Aaron R.

المساهمون: National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Health and Medical Research Council, MRFF Genomics Health Futures Mission, National Institutes of Health

المصدر: Genome Biology ; volume 23, issue 1 ; ISSN 1474-760X

الإتاحة: https://doi.org/10.1186/s13059-022-02826-4Test