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1Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS
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. 11(7):1775-1786
وصف الملف: electronic
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2
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
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3
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
URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-214248
https://doi.org/10.1093/brain/awad120
https://umu.diva-portal.org/smash/get/diva2:1798190/FULLTEXT01.pdf -
4دورية أكاديمية
المؤلفون: Huin, Vincent, Blum, David, Delforge, Violette, Cailliau, Emeline, Djeziri, Sofia, Dujardin, Kathy, Genet, Alexandre, Viard, Romain, Attarian, Shahram, Bruneteau, Gaelle, Cassereau, Julien, Genestet, Steeve, Kaminsky, Anne-Laure, Soriani, Marie-Hélène, Lefilliatre, Mathilde, Couratier, Philippe, Pittion-Vouyovitch, Sophie, Esselin, Florence, De La Cruz, Elisa, Guy, Nathalie, Kolev, Ivan, Corcia, Philippe, Cintas, Pascal, Desnuelle, Claude, Buée, Luc, Danel-Brunaud, Véronique, Devos, David, Rolland, Anne-Sophie
المصدر: In Neurobiology of Disease September 2024 199
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5دورية أكاديمية
المؤلفون: Nicolas, Gaël, Zaréa, Aline, Lacour, Morgane, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Bonnevalle, Antoine, Schramm, Catherine, Olaso, Robert, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Andriuta, Daniela, Anthony, Pierre, Auriacombe, Sophie, Balageas, Anna-Chloé, Ballan, Guillaume, Barbay, Mélanie, Béjot, Yannick, Belliard, Serge, Benaiteau, Marie, Bennys, Karim, Bombois, Stéphanie, Boutoleau-Bretonnière, Claire, Branger, Pierre, Carlier, Jasmine, Cartz-Piver, Leslie, Cassagnaud, Pascaline, Ceccaldi, Mathieu-Pierre, Chauviré, Valérie, Chen, Yaohua, Cogez, Julien, Cognat, Emmanuel, Contegal-Callier, Fabienne, Corneille, Léa, Couratier, Philippe, Cretin, Benjamin, Crinquette, Charlotte, Dauriat, Benjamin, Dautricourt, Sophie, de la Sayette, Vincent, de Liège, Astrid, Deffond, Didier, Demurger, Florence, Deramecourt, Vincent, Derollez, Céline, Dionet, Elsa, Doco Fenzy, Martine, Dumurgier, Julien, Dutray, Anaïs, Etcharry-Bouyx, Frédérique, Formaglio, Maïté, Gabelle, Audrey, Gainche-Salmon, Anne, Godefroy, Olivier, Graber, Mathilde, Gregoire, Chloé, Grimaldi, Stephan, Gueniat, Julien, Gueriot, Claude, Guillet-Pichon, Virginie, Haffen, Sophie, Hanta, Cezara-Roxana, Hardy, Clémence, Hautecloque, Geoffroy, Heitz, Camille, Hourregue, Claire, Jonveaux, Thérèse, Jurici, Snejana, Koric, Lejla, Krolak-Salmon, Pierre, Lagarde, Julien, Lanoiselée, Hélène-Marie, Laurens, Brice, Le Ber, Isabelle, Le Guyader, Gwenaël, Leblanc, Amélie, Lebouvier, Thibaud, Levy, Richard, Lippi, Anaïs, Mackowiak, Marie-Anne, Magnin, Eloi, Marelli, Cecilia, Martinaud, Olivier, Maureille, Aurelien, Migliaccio, Raffaella, Milongo-Rigal, Emilie, Mohr, Sophie, Mollion, Hélène, Morin, Alexandre, Nivelle, Julia, Noiray, Camille, Olivieri, Pauline, Paquet, Claire, Pariente, Jérémie, Pasquier, Florence, Perron, Alexandre, Philippi, Nathalie, Planche, Vincent, Pouclet-Courtemanche, Hélène, Rafiq, Marie, Rollin-Sillaire, Adeline, Roué-Jagot, Carole, Saracino, Dario, Sarazin, Marie, Sauvée, Mathilde, Sellal, François, Teichmann, Marc, Thauvin, Christel, Thomas, Quentin, Tisserand, Camille, Turpinat, Cédric, Van Damme, Laurène, Vercruysse, Olivier, Villain, Nicolas, Wagemann, Nathalie, Charbonnier, Camille, Wallon, David
المصدر: In Genetics in Medicine May 2024 26(5)
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6دورية أكاديمية
المؤلفون: Megat, SalimAff1, IDs41467023437104_cor1, Mora, Natalia, Sanogo, Jason, Roman, Olga, Catanese, AlbertoAff3, Aff4, Alami, Najwa Ouali, Freischmidt, AxelAff4, Aff6, Mingaj, Xhuljana, De Calbiac, Hortense, Muratet, François, Dirrig-Grosch, Sylvie, Dieterle, Stéphane, Van Bakel, Nick, Müller, KathrinAff4, Aff9, Sieverding, Kirsten, Weishaupt, Jochen, Andersen, Peter Munch, Weber, Markus, Neuwirth, Christoph, Margelisch, Markus, Sommacal, Andreas, Van Eijk, Kristel R., Veldink, Jan H., Lautrette, Géraldine, Couratier, Philippe, Camuzat, Agnès, Le Ber, Isabelle, Grassano, Maurizio, Chio, Adriano, Boeckers, TobiasAff3, Aff4, Ludolph, Albert C.Aff4, Aff6, Roselli, FrancescoAff4, Aff6, Yilmazer-Hanke, Deniz, Millecamps, Stéphanie, Kabashi, Edor, Storkebaum, Erik, Sellier, Chantal, Dupuis, LucAff1, IDs41467023437104_cor39
المصدر: Nature Communications. 14(1)
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7دورية أكاديمية
المؤلفون: Megat, SalimAff1, IDs41467022357241_cor1, Mora, Natalia, Sanogo, Jason, Roman, Olga, Catanese, AlbertoAff3, Aff4, Alami, Najwa Ouali, Freischmidt, AxelAff4, Aff6, Mingaj, Xhuljana, De Calbiac, Hortense, Muratet, François, Dirrig-Grosch, Sylvie, Dieterle, Stéphane, Van Bakel, Nick, Müller, KathrinAff4, Aff9, Sieverding, Kirsten, Weishaupt, Jochen, Andersen, Peter Munch, Weber, Markus, Neuwirth, Christoph, Margelisch, Markus, Sommacal, Andreas, Van Eijk, Kristel R., Veldink, Jan H., Lautrette, Géraldine, Couratier, Philippe, Camuzat, Agnès, Le Ber, Isabelle, Grassano, Maurizio, Chio, Adriano, Boeckers, TobiasAff3, Aff4, Ludolph, Albert C.Aff4, Aff6, Roselli, FrancescoAff4, Aff6, Yilmazer-Hanke, Deniz, Millecamps, Stéphanie, Kabashi, Edor, Storkebaum, Erik, Sellier, Chantal, Dupuis, LucAff1, IDs41467022357241_cor39
المصدر: Nature Communications. 14(1)
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8
المؤلفون: Kliest, Tessa, Van Eijk, Ruben P.A., Al-Chalabi, Ammar, Albanese, Alberto, Andersen, Peter M., 1962, Amador, Maria Del Mar, Bråthen, Geir, Brunaud-Danel, Veronique, Brylev, Lev, Camu, William, De Carvalho, Mamede, Cereda, Cristina, Cetin, Hakan, Chaverri, Delia, Chiò, Adriano, Corcia, Philippe, Couratier, Philippe, De Marchi, Fabiola, Desnuelle, Claude, Van Es, Michael A., Esteban, JesÚs, Filosto, Massimiliano, GarcÍa Redondo, Alberto, Grosskreutz, Julian, Hanemann, Clemens O., Holmøy, Trygve, Høyer, Helle, Ingre, Caroline, Koritnik, Blaz, Kuzma-Kozakiewicz, Magdalena, Lambert, Thomas, Leigh, Peter N., Lunetta, Christian, Mandrioli, Jessica, Mcdermott, Christopher J., Meyer, Thomas, Mora, Jesus S., Petri, Susanne, Povedano, Mónica, Reviers, Evy, Riva, Nilo, Roes, Kit C.B., Rubio, Miguel Á., Salachas, François, Sarafov, Stayko, Sorarù, Gianni, Stevic, Zorica, Svenstrup, Kirsten, Møller, Anette Torvin, Turner, Martin R., Van Damme, Philip, Van Leeuwen, Lucie A.G., Varona, Luis, VÁzquez Costa, Juan F., Weber, Markus, Hardiman, Orla, Van Den Berg, Leonard H.
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 23(7-8):481-488
مصطلحات موضوعية: clinical trial, clinical trials, ethics, Pediatric amyotrophic lateral sclerosis, pediatric investigation plan, therapy
وصف الملف: electronic
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9دورية أكاديمية
المؤلفون: van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia
المصدر: Nature Genetics. 53(12)
مصطلحات موضوعية: Human Genome, Neurodegenerative, Clinical Research, Rare Diseases, Prevention, ALS, Neurosciences, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Brain, Cholesterol, Disease Progression, Female, Genome-Wide Association Study, Glutamine, Humans, Male, Mendelian Randomization Analysis, Microsatellite Repeats, Mutation, Neurodegenerative Diseases, Neurons, Quantitative Trait Loci, RNA-Seq, Risk Factors, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/07c2z7v3
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10دورية أكاديمية
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