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1دورية أكاديمية
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/
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2دورية أكاديمية
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/
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3دورية أكاديمية
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
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4دورية أكاديمية
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
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5دورية أكاديمية
المؤلفون: Parmar, Jevin M., McNamara, Elyshia L., Lamont, Phillipa J., Kumar, Kishore R., Rick, Audrey, Stoll, Marion, Cheong, Pak Leng, Ravenscroft, Gianina
المصدر: Neurology Genetics ; volume 10, issue 3 ; ISSN 2376-7839
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6دورية أكاديمية
المؤلفون: Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocio Nur, Caballero-Avila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Sgobbi Souza, Paulo Victor, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso Jimenez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olive, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Dominguez-Gonzalez, Cristina, Papadimas, George K., Warman, Jodi, Claeys, Kristl G., de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N., Nair, Sruthi S., Manousakis, Georgios, Kushlaf, Hani A., Harms, Matthew B., Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, Garcia-Garcia, Jorge, Pal, Endre, Farrugia, Maria Elena, Lamont, Phillipa J., Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi
المساهمون: VCP International Study Group
المصدر: 0022-3050 ; Journal of neurology, neurosurgery and psychiatry
مصطلحات موضوعية: Human medicine
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000832647100001
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7مؤتمر
المؤلفون: Christodoulou, John, Baker, Naomi, Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kristen, Borrie, Sarah, Bratkovic, Drago, Braithwaite, Jeffrey, Bray, Alessandra, Burke, Jo, Coman, David, Compton, Alison G., Cowley, Mark, Delatycki, Martin, De Silva, Michelle, Ellaway, Carolyn, Fahey, Michael, Fletcher, Janice, Frajman, Leah, Frazier, Ann, Gayeskiv, Velimer, Ghaoui, Roula, Goel, Himanshu, Goranitis, Ilias, Hock, Daniella H., Howting, Denise, Jackson, Matilda, Kava, Maina, King-Smith, Sarah, Lake, Nicole J., Lamont, Phillipa J., Yaplito-Lee, Joy, Long, Janet, MacShane, Mandi, Martin, Ellenore, McGill, Jim, Murray, Sean, Panetta, Julie, Phillips, Liza, Quinn, Michael, Rius, Rocio, Ryan, Michael, Smith, Nicholas, Stroud, David, Tchan, Michel, Tom, Melanie, Wallis, Matthew, Ware, Tyson, Welch, AnneMarie, Wools, Christine, Wu, Eunice, Thorburn, David R.
المصدر: Christodoulou , J , Baker , N , Balasubramaniam , S , Best , S , Bhattacharya , K , Boggs , K , Borrie , S , Bratkovic , D , Braithwaite , J , Bray , A , Burke , J , Coman , D , Compton , A G , Cowley , M , Delatycki , M , De Silva , M , Ellaway , C , Fahey , M , Fletcher , J , Frajman , L , Frazier , A , Gayeskiv , V , Ghaoui , R , Goel , H , Goranitis ....
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8دورية أكاديمية
المؤلفون: Cortese, Andrea, Tozza, Stefano, Yau, Wai Yan, Rossi, Salvatore, Beecroft, Sarah J, Jaunmuktane, Zane, Dyer, Zoe, Ravenscroft, Gianina, Lamont, Phillipa J, Mossman, Stuart, Chancellor, Andrew, Maisonobe, Thierry, Pereon, Yann, Cauquil, Cecile, Colnaghi, Silvia, Mallucci, Giulia, Curro, Riccardo, Tomaselli, Pedro J, Thomas-Black, Gilbert, Sullivan, Roisin, Efthymiou, Stephanie, Rossor, Alexander M, Laurá, Matilde, Pipis, Menelaos, Horga, Alejandro, Polke, James, Kaski, Diego, Horvath, Rita, Chinnery, Patrick F, Marques, Wilson, Tassorelli, Cristina, Devigili, Grazia, Leonardis, Lea, Wood, Nick W, Bronstein, Adolfo, Giunti, Paola, Züchner, Stephan, Stojkovic, Tanya, Laing, Nigel, Roxburgh, Richard H, Houlden, Henry, Reilly, Mary M
مصطلحات موضوعية: RFC1, cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), chronic cough, repeat expansion, sensory neuropathy, Aged, 80 and over, Ataxia, Cerebellum, Female, Humans, Male, Middle Aged, Neurologic Examination, Peripheral Nervous System Diseases, Reflex, Abnormal, Sensation Disorders, Syndrome, Vestibular Neuronitis
وصف الملف: Print; application/pdf
الإتاحة: https://doi.org/10.17863/CAM.51671Test
https://www.repository.cam.ac.uk/handle/1810/304589Test -
9دورية أكاديميةTargeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
المؤلفون: Beecroft, Sarah J, Yau, Kyle S, Allcock, Richard J N, Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J, Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M, Cabrera-Serrano, Macarena, Nowak, Kristen J, Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J, Davis, Mark R, Laing, Nigel G
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Australia, Child, Preschool, Cohort Studies, Female, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Middle Aged, Neuromuscular Diseases, New Zealand, Referral and Consultation, Young Adult
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/10668/15220Test; PMC7086001; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086001/pdfTest
الإتاحة: https://doi.org/10.1002/acn3.51002Test
http://hdl.handle.net/10668/15220Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086001/pdfTest -
10دورية أكاديمية
المؤلفون: Milne, Sarah C, Corben, Louise A, Roberts, Melissa, Szmulewicz, David, Burns, J, Grobler, Anneke C, Williams, Shannon, Chua, Jillian, Liang, Christina, Lamont, Phillipa J, Grootendorst, Alison C, Massey, Libby, Sue, Carolyn, Dalziel, Kim, LaGrappe, Desiree, Willis, Liz, Freijah, Aleka, Gerken, Paul, Delatycki, Martin B
مصطلحات موضوعية: Rehabilitation medicine
وصف الملف: text/html
العلاقة: http://bmjopen.bmj.com/cgi/content/short/10/12/e040230Test; http://dx.doi.org/10.1136/bmjopen-2020-040230Test
الإتاحة: https://doi.org/10.1136/bmjopen-2020-040230Test
http://bmjopen.bmj.com/cgi/content/short/10/12/e040230Test
النص الكامل