المؤلفون: Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M., 1962, Başak, Nazli A., Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al-Chalabi, Ammar, Iacoangeli, Alfredo

المصدر: Annals of Clinical and Translational Neurology.

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-226966Test
https://doi.org/10.1002/acn3.52083Test
https://umu.diva-portal.org/smash/get/diva2:1876294/FULLTEXT01.pdfTest

المؤلفون: Van Damme, Philip, Al-Chalabi, Ammar, Andersen, Peter M., 1962, Chiò, Adriano, Couratier, Philippe, De Carvalho, Mamede, Hardiman, Orla, Kuźma-Kozakiewicz, Magdalena, Ludolph, Albert, McDermott, Christopher J., Mora, Jesus S., Petri, Susanne, Probyn, Katrin, Reviers, Evy, Salachas, François, Silani, Vincenzo, Tysnes, Ole-Bjørn, van den Berg, Leonard H., Villanueva, Gemma, Weber, Markus

المصدر: European Journal of Neurology. 31(6)

مصطلحات موضوعية: disease-modifying treatment, gastrostomy, guideline, multidisciplinary care, non-invasive ventilation

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-223082Test
https://doi.org/10.1111/ene.16264Test
https://umu.diva-portal.org/smash/get/diva2:1851536/FULLTEXT02.pdfTest

المؤلفون: Van Daele, Sien Hilde, Moisse, Matthieu, van Vugt, Joke J F A, Zwamborn, Ramona A J, van der Spek, Rick, van Rheenen, Wouter, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Vourc'h, Patrick, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Ratti, Antonia, de Carvalho, Mamede, Mora Pardina, Jesús S, Povedano, Monica, Andersen, Peter M., 1962, Weber, Markus, Başak, Nazli A., Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., van Es, Michael A., van den Berg, Leonard H., Al-Chalabi, Ammar, Veldink, Jan, Van Damme, Philip

المصدر: Brain. 146(9):3760-3769

مصطلحات موضوعية: complex genetic disease, motor neuron disease, oligogenic inheritance

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-214248Test
https://doi.org/10.1093/brain/awad120Test
https://umu.diva-portal.org/smash/get/diva2:1798190/FULLTEXT01.pdfTest

المؤلفون: Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S. Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M., 1962, van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A.

المصدر: Neurobiology of Aging. 122:76-87

مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Genetic modifiers, Post-zygotic mutations, Repeat expansions

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-201947Test
https://doi.org/10.1016/j.neurobiolaging.2022.11.010Test
https://umu.diva-portal.org/smash/get/diva2:1722422/FULLTEXT01.pdfTest

المؤلفون: Restuadi, Restuadi, Steyn, Frederik J, Kabashi, Edor, Ngo, Shyuan T, Cheng, Fei-Fei, Nabais, Marta F, Thompson, Mike J, Qi, Ting, Wu, Yang, Henders, Anjali K, Wallace, Leanne, Bye, Chris R, Turner, Bradley J, Ziser, Laura, Mathers, Susan, McCombe, Pamela A, Needham, Merrilee, Schultz, David, Kiernan, Matthew C, van Rheenen, Wouter, van den Berg, Leonard H, Veldink, Jan H, Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F, Henderson, Robert D, Wray, Naomi R, Giacomotto, Jean, Garton, Fleur C

المصدر: Genome Medicine. 14(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Neurosciences, Neurodegenerative, Biotechnology, Human Genome, Brain Disorders, ALS, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Animals, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Neurodegenerative Diseases, Polymorphism, Single Nucleotide, Zebrafish, Motor neurone disease, MND, Genome-wide association study, Computational biology, Neurodegenerative diseases, Quantitative trait loci, Genes, Regulator, Disease progression, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5ms535m1Test

المؤلفون: Foucher, Juliette, Bunte, Tommy M., Bertone, Vanessa, Verschoor, Romy L., Couillard, Mathias, Straub, Corey, Genge, Angela, Ingre, Caroline, van den Berg, Leonard H.

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ; page 1-2 ; ISSN 2167-8421 2167-9223

الإتاحة: https://doi.org/10.1080/21678421.2024.2362850Test

المؤلفون: Budding, Kevin, Bos, Jeroen W, Dijkxhoorn, Kim, de Zeeuw, Elisabeth, Bloemenkamp, Lauri M, Zekveld, Eva M, Groen, Ewout J N, Jacobs, Bart C, Huizinga, Ruth, Goedee, H Stephan, Cats, Elisabeth A, Leusen, Jeanette H W, van den Berg, Leonard H, Hack, C Erik, van der Pol, W Ludo

المساهمون: CTI Budding, Infection & Immunity, Opleiding Neurologie, Apotheek Opleiding, Neurologen, CTI Leusen, Cancer, CTI, Brain

مصطلحات موضوعية: Complement System Proteins, Cross-Sectional Studies, G(M1) Ganglioside, G(M2) Ganglioside, Humans, Immunoglobulin M, Polyneuropathies, Schwann Cells, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/451789Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/451789Test

المؤلفون: Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D, Abel, Olubunmi, Mayl, Keith, Mehta, Puja R, Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P, Al-Khleifat, Ahmad, Williams, Kelly L, Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A, Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J, Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H, Landers, John E, Glass, Jonathan D, Mora, Jesus S, Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H, Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P, Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A, Siddique, Teepu, Miller, Timothy, Brown, Robert H, Al-Chalabi, Ammar, Shaw, Christopher E

المساهمون: Neurology

المصدر: Nature communications ; 13 ; 1 ; 6901 ; United States ; United Kingdom ; England

مصطلحات موضوعية: Medical genetics

العلاقة: Nature Communications; https://doi.org/10.1038/s41467-022-34620-yTest; Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nat Commun. 2022 Nov 12;13(1):6901. doi:10.1038/s41467-022-34620-y. PMID: 36371497; PMCID: PMC9653399.; http://hdl.handle.net/20.500.14038/53237Test

الإتاحة: https://doi.org/10.1038/s41467-022-34620-yTest
https://doi.org/20.500.14038/53237Test
https://hdl.handle.net/20.500.14038/53237Test

المؤلفون: Van Damme, Philip, Al-Chalabi, Ammar, Andersen, Peter M., Chiò, Adriano, Couratier, Philippe, De Carvalho, Mamede, Hardiman, Orla, Kuźma-Kozakiewicz, Magdalena, Ludolph, Albert, McDermott, Christopher J., Mora, Jesus S., Petri, Susanne, Probyn, Katrin, Reviers, Evy, Salachas, François, Silani, Vincenzo, Tysnes, Ole-Bjørn, van den Berg, Leonard H., Villanueva, Gemma, Weber, Markus

مصطلحات موضوعية: disease-modifying treatment, gastrostomy, guideline, multidisciplinary care, non-invasive ventilation, Neurology, Neurologi

وصف الملف: application/pdf

العلاقة: European Journal of Neurology, 1351-5101, 2024, 31:6; orcid:0000-0003-0094-5429; http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-223082Test; PMID 38470068; ISI:001182520500001; Scopus 2-s2.0-85187465125

الإتاحة: https://doi.org/10.1111/ene.16264Test
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-223082Test

المؤلفون: BARC, Julien, TADROS, Rafik, GLINGE, Charlotte, CHIANG, David Y, JOUNI, Mariam, SIMONET, Floriane, JURGENS, Sean J, BAUDIC, Manon, NICASTRO, Michele, POTET, Franck, OFFERHAUS, Joost A, WALSH, Roddy, CHOI, Seung Hoan, VERKERK, Arie O, MIZUSAWA, Yuka, ANYS, Soraya, MINOIS, Damien, ARNAUD, Marine, DUCHATEAU, Josselin, WIJEYERATNE, Yanushi D, MUIR, Alison, PAPADAKIS, Michael, CASTELLETTI, Silvia, TORCHIO, Margherita, ORTUÑO, Cristina Gil, LACUNZA, Javier, GIACHINO, Daniela F, CERRATO, Natascia, MARTINS, Raphaël P, CAMPUZANO, Oscar, VAN DOOREN, Sonia, THOLLET, Aurélie, KYNDT, Florence, MAZZANTI, Andrea, CLÉMENTY, Nicolas, BISSON, Arnaud, CORVELEYN, Anniek, STALLMEYER, Birgit, DITTMANN, Sven, SAENEN, Johan, NOËL, Antoine, HONARBAKHSH, Shohreh, RUDIC, Boris, MARZAK, Halim, ROWE, Matthew K, FEDERSPIEL, Claire, LE PAGE, Sophie, PLACIDE, Leslie, MILHEM, Antoine, BARAJAS-MARTINEZ, Hector, BECKMANN, Britt-Maria, KRAPELS, Ingrid P, STEINFURT, Johannes, WINKEL, Bo Gregers, JABBARI, Reza, SHOEMAKER, Moore B, BOUKENS, Bas J, ŠKORIĆ-MILOSAVLJEVIĆ, Doris, BIKKER, Hennie, MANEVY, Federico, LICHTNER, Peter, RIBASÉS, Marta, MEITINGER, Thomas, MÜLLER-NURASYID, Martina, VELDINK, Jan H, VAN DEN BERG, Leonard H, VAN DAMME, Philip, CUSI, Daniele, LANZANI, Chiara, RIGADE, Sidwell, CHARPENTIER, Eric, BARON, Estelle, BONNAUD, Stéphanie, LECOINTE, Simon, DONNART, Audrey, LE MAREC, Hervé, CHATEL, Stéphanie, KARAKACHOFF, Matilde, BÉZIEAU, Stéphane, LONDON, Barry, TFELT-HANSEN, Jacob, RODEN, Dan, ODENING, Katja E, CERRONE, Marina, CHINITZ, Larry A, VOLDERS, Paul G, VAN DE BERG, Maarten P, LAURENT, Gabriel, FAIVRE, Laurence, ANTZELEVITCH, Charles, KÄÄB, Stefan, ARNAOUT, Alain Al, DUPUIS, Jean-Marc, PASQUIE, Jean-Luc, BILLON, Olivier, ROBERTS, Jason D, JESEL, Laurence, BORGGREFE, Martin, LAMBIASE, Pier D, MANSOURATI, Jacques, LOEYS, Bart, LEENHARDT, Antoine, GUICHENEY, Pascale, MAURY, Philippe, SCHULZE-BAHR, Eric, ROBYNS, Tomas, BRECKPOT, Jeroen, BABUTY, Dominique, PRIORI, Silvia G, NAPOLITANO, Carlo, DE ASMUNDIS, Carlo, BRUGADA, Pedro, BRUGADA, Ramon, ARBELO, Elena, BRUGADA, Josep, MABO, Philippe, BEHAR, Nathalie, GIUSTETTO, Carla, MOLINA, Maria Sabater, GIMENO, Juan R, HASDEMIR, Can, SCHWARTZ, Peter J, CROTTI, Lia, MCKEOWN, Pascal P, SHARMA, Sanjay, BEHR, Elijah R, HAISSAGUERRE, Michel, SACHER, Frédéric, ROORYCK, Caroline, TAN, Hanno L, REMME, Carol A, POSTEMA, Pieter G, DELMAR, Mario, ELLINOR, Patrick T, LUBITZ, Steven A, GOURRAUD, Jean-Baptiste, TANCK, Michael W, GEORGE, Alfred L, MACRAE, Calum A, BURRIDGE, Paul W, DINA, Christian, PROBST, Vincent, WILDE, Arthur A, SCHOTT, Jean-Jacques, REDON, Richard, BEZZINA, Connie R

مصطلحات موضوعية: Alleles, Brugada Syndrome, Disease Susceptibility, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Microtubule-Associated Proteins, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Young Adult, Sciences du Vivant [q-bio]/Médecine humaine et pathologie

العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/186976Test

الإتاحة: https://doi.org/20.500.12278/186976Test
https://doi.org/10.1038/s41588-021-01007-6Test
https://oskar-bordeaux.fr/handle/20.500.12278/186976Test
https://hdl.handle.net/20.500.12278/186976Test