المؤلفون: Kishnani, Priya, Byrne, Barry, Claeys, Kristl, Díaz-Manera, Jordi, Dimachkie, Mazen, Kushlaf, Hani, Mozaffar, Tahseen, Roberts, Mark, Schoser, Benedikt, Hummel, Noemi, Kopiec, Agnieszka, Holdbrook, Fred, Shohet, Simon, Toscano, Antonio

المصدر: Journal of Patient-Reported Outcomes. 8(1)

مصطلحات موضوعية: Health-related quality of life, Patient-reported Outcome Measurement Information System, Patient-reported outcomes, Pompe disease, Humans, Glycogen Storage Disease Type II, Patient Reported Outcome Measures, Male, Quality of Life, Female, Middle Aged, alpha-Glucosidases, Enzyme Replacement Therapy, Adult, 1-Deoxynojirimycin, Drug Therapy, Combination, Treatment Outcome, Aged

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1h223514
https://escholarship.org/content/qt1h223514/qt1h223514.pdf

المؤلفون: Schoser, Benedikt, Kishnani, Priya, Bratkovic, Drago, Byrne, Barry, Claeys, Kristl, Díaz-Manera, Jordi, Laforêt, Pascal, Roberts, Mark, Toscano, Antonio, van der Ploeg, Ans, Castelli, Jeff, Goldman, Mitchell, Holdbrook, Fred, Sitaraman Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen

المصدر: Journal of Neurology. 271(5)

مصطلحات موضوعية: n-butyldeoxynojirimycin, Alpha glucosidase, Glycogen storage disease type II, Lysosomal storage disorders, Myozyme, Humans, Male, Female, Glycogen Storage Disease Type II, Middle Aged, Adult, 1-Deoxynojirimycin, Double-Blind Method, Enzyme Replacement Therapy, alpha-Glucosidases, Drug Therapy, Combination, Treatment Outcome, Aged, Enzyme Inhibitors

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5553z003
https://escholarship.org/content/qt5553z003/qt5553z003.pdf

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

URL الوصول: https://escholarship.org/uc/item/7934r86t
https://escholarship.org/content/qt7934r86t/qt7934r86t.pdf

المؤلفون: Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, 't Hoen, Peter A C, Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D'Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G J, de Visser, Marianne, Claeys, Kristl G, Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D, Lochmuller, Hanns, Evangelista, Teresinha

المساهمون: Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, 't Hoen, Peter A C, Athanasiou, Dimitrio, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgio, D'Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, Françoi, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G J, de Visser, Marianne, Claeys, Kristl G, Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D, Lochmuller, Hann, Evangelista, Teresinha

مصطلحات موضوعية: FAIR data, Neuromuscular Disease, Rare Disease, Registry, Registry Hub

Relation: info:eu-repo/semantics/altIdentifier/pmid/38355534; info:eu-repo/semantics/altIdentifier/wos/WOS:001162397300002; volume:19; issue:1; numberofpages:15; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11568/1223167; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185334453; https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03059-3

الاتاحة: https://hdl.handle.net/11568/1223167
https://doi.org/10.1186/s13023-024-03059-3
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03059-3

المؤلفون: Momenilandi, Mana, Lévy, Romain, Sobrino, Steicy, Li, Jingwei, Lagresle-Peyrou, Chantal, Esmaeilzadeh, Hossein, Fayand, Antoine, Le Floc'h, Corentin, Guerin, Antoine, Della Mina, Erika, Shearer, Debra, Delmonte, Ottavia M., Yatim, Ahmad, Mulder, Kevin, Mancini, Mathieu, Rinchai, Darawan, Denis, Adeline, Neehus, Anna-Lena, Balogh, Karla, Brendle, Sarah, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Seeleuthner, Yoann, Deswarte, Caroline, Bessot, Boris, Cremades, Cassandre, Materna, Marie, Cederholm, Axel, Ogishi, Masato, Philippot, Quentin, Beganovic, Omer, Ackermann, Mania, Wuyts, Margareta, Khan, Taushif, Fouéré, Sebastien, Herms, Florian, Chanal, Johan, Palterer, Boaz, Bruneau, Julie, Molina, Thierry J., Leclerc-Mercier, Stéphanie, Prétet, Jean-Luc, Youssefian, Leila, Vahidnezhad, Hassan, Parvaneh, Nima, Claeys, Kristl G., Schrijvers, Rik, Luka, Marine, Pérot, Philippe, Fourgeaud, Jacques, Nourrisson, Céline, Poirier, Philippe, Jouanguy, Emmanuelle, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Notarangelo, Luigi D., Christensen, Neil, Landegren, Nils, Abel, Laurent, Marr, Nico, Six, Emmanuelle, Langlais, David, Waterboer, Tim, Ginhoux, Florent, Ma, Cindy S., Tangye, Stuart G., Meyts, Isabelle, Lachmann, Nico, Hu, Jiafen, Shahrooei, Mohammad, Bossuyt, Xavier, Casanova, Jean-Laurent, Béziat, Vivien

مصطلحات موضوعية: Immunology in the medical area, Immunologi inom det medicinska området, Hematology, Hematologi, Cell and Molecular Biology, Cell- och molekylärbiologi

وصف الملف: application/pdf

Relation: Cell, 0092-8674, 2024, 187:11, s. 2817-2837.e31; PMID 38701783; ISI:001271502700001

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-540805
https://doi.org/10.1016/j.cell.2024.04.009

المؤلفون: Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valérie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’donnell-Luria, Anne, Ogonuki, Narumi, O’grady, Gina L., O’heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, van den Bergh, Peter, Vannoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., Macarthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

المساهمون: Newcastle University Newcastle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), European Project: 305121,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,NEUROMICS(2012), European Project: 779257,Solve-RD

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/grantAgreement/EC/FP7/305121/EU/Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases/NEUROMICS; info:eu-repo/grantAgreement//779257/EU/European Union's Horizon 2020 research and innovation program/Solve-RD

الاتاحة: https://hal.science/hal-04699537
https://hal.science/hal-04699537v1/document
https://hal.science/hal-04699537v1/file/islandora_171817.pdf
https://doi.org/10.1038/s41588-023-01651-0

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: van Kooten, Harmke A., Horton, Mike C., Wenninger, Stephan, Babačić, Haris, Schoser, Benedikt, Lefeuvre, Claire, Taouagh, Najib, Laforêt, Pascal, Segovia, Sonia, Díaz‐Manera, Jordi, Claeys, Kristl G., Mongini, Tiziana, Musumeci, Olimpia, Toscano, Antonio, Hundsberger, Thomas, Brusse, Esther, van Doorn, Pieter A., van der Ploeg, Ans T., van der Beek, Nadine A. M. E.

المصدر: European Journal of Neurology ; volume 31, issue 12 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.16397
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.16397

المؤلفون: Claeys, Kristl G., Savarese, Marco, Jonson, Per Harald, Goosens, Veerle, Topf, Ana, Vihola, Anna, Straub, Volker, Udd, Bjarne

المساهمون: Tampere University, NIKU, Neural

مصطلحات موضوعية: 3124 Neurology and psychiatry

وصف الملف: fulltext

Relation: NXG.0000000000200185; 10; https://trepo.tuni.fi/handle/10024/161310

الاتاحة: https://trepo.tuni.fi/handle/10024/161310
https://doi.org/10.1212/NXG.0000000000200185

المؤلفون: Töpf, A. (Ana), Cox, D. (Dan), Zaharieva, Irina T., Di Leo, V. (Valeria), Sarparanta, J. (Jaakko), Jonson, P. (Per Harald), Sealy, Ian M., Smolnikov, A. (Andrei), White, Richard J., Vihola, A. (Anna), Savarese, M. (Marco), Merteroglu, M. (Munise), Wali, N. (Neha), Laricchia, Kristen M., Venturini, C. (Cristina), Vroling, B. (Bas), Stenton, Sarah L., Cummings, Beryl B., Harris, E. (Elizabeth), Marini-Bettolo, C. (Chiara), Diaz-Manera, J. (Jordi), Henderson, M. (Matt), Barresi, R. (Rita), Duff, J. (Jennifer), England, Eleina M., Patrick, J. (Jane), Al-Husayni, S. (Sundos), Biancalana, V. (Valérie), Beggs, Alan H., Bodi, I. (Istvan), Bommireddipalli, S. (Shobhana), Bönnemann, Carsten G., Cairns, A. (Anita), Chiew, M. (Mei-Ting), Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, S. (Sandra), Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, C. (Carla), Jungbluth, H. (Heinz), Kamsteeg, E. (Erik-Jan), Lornage, X. (Xavière), Löscher, Wolfgang N., Malfatti, E. (Edoardo), Manzur, A. (Adnan), Martí, P. (Pilar), Mongini, Tiziana E., Muelas, N. (Nuria), Nishikawa, A. (Atsuko), O’Donnell-Luria, A. (Anne), Ogonuki, N. (Narumi), O’Grady, Gina L., O’Heir, E. (Emily), Paquay, S. (Stéphanie), Phadke, R. (Rahul), Pletcher, Beth A., Romero, Norma B., Schouten, M. (Meyke), Shah, S. (Snehal), Smuts, I. (Izelle), Sznajer, Y. (Yves), Tasca, G. (Giorgio), Taylor, Robert W., Tuite, A. (Allysa), Van den Bergh, P. (Peter), VanNoy, G. (Grace), Voermans, Nicol C., Wanschitz, Julia V., Wraige, E. (Elizabeth), Yoshimura, K. (Kimihiko), Oates, Emily C., Nakagawa, O. (Osamu), Nishino, I. (Ichizo), Laporte, J. (Jocelyn), Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, A. (Anna), Cordell, Heather J., Udd, B. (Bjarne), Busch-Nentwich, Elisabeth M., Muntoni, F. (Francesco), Straub, V. (Volker)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://www.nature.com/articles/s41588-023-01651-0

المؤلفون: Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Byrne, Barry J., Claeys, Kristl G., Díaz-Manera, Jordi, Laforêt, Pascal, Roberts, Mark, Toscano, Antonio, van der Ploeg, Ans T., Castelli, Jeff, Goldman, Mitchell, Holdbrook, Fred, Sitaraman Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen

المصدر: Schoser , B , Kishnani , P S , Bratkovic , D , Byrne , B J , Claeys , K G , Díaz-Manera , J , Laforêt , P , Roberts , M , Toscano , A , van der Ploeg , A T , Castelli , J , Goldman , M , Holdbrook , F , Sitaraman Das , S , Wasfi , Y & Mozaffar , T 2024 , ' 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease : a phase III open-label extension study (ATB200-07) ' , Journal ....

وصف الملف: application/pdf

Relation: https://pure.eur.nl/en/publications/20632472-80d9-4198-8193-e1438aa7ab57

الاتاحة: https://pure.eur.nl/en/publications/20632472-80d9-4198-8193-e1438aa7ab57
https://doi.org/10.1007/s00415-024-12236-0
https://pure.eur.nl/ws/files/138123181/104-week_efficacy_and_safety_of_cipaglucosidase_alfa_plus_miglustat_in_adults_with_late-onset_Pompe_disease.pdf
http://www.scopus.com/inward/record.url?scp=85186198211&partnerID=8YFLogxK

المؤلفون: De Bleecker, Jan, Remiche, Gauthier, Alonso-Jiménez, Alicia, Van Parys, Vinciane, Bissay, Véronique, Delstanche, Stéphanie, Claeys, Kristl G

المصدر: Acta neurologica belgica

مصطلحات موضوعية: Neurologie, Belgium, Clinical management, Myasthenia gravis, Therapies, Treatment recommendations

وصف الملف: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1007/s13760-024-02552-7; uri/info:scp/85191094763; https://dipot.ulb.ac.be/dspace/bitstream/2013/373763/1/doi_357407.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/373763

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/373763
https://dipot.ulb.ac.be/dspace/bitstream/2013/373763/1/doi_357407.pdf

المؤلفون: De Wel, Bram, Iterbeke, Louise, Huysmans, Lotte, Peeters, Ronald, Goosens, Veerle, Dubuisson, Nicolas, Van Den Bergh, Peter, Van Parijs, Vinciane, Remiche, Gauthier, De Waele, Liesbeth, Maes, Frederik, Dupont, Patrick, Claeys, Kristl G

المصدر: European journal of neurology

مصطلحات موضوعية: Neurologie, BMD, Dixon, magnetic resonance imaging, quantitative MRI, trial readiness

وصف الملف: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1111/ene.16282; uri/info:scp/85188525619; https://dipot.ulb.ac.be/dspace/bitstream/2013/372930/1/doi_356574.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/372930

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/372930
https://dipot.ulb.ac.be/dspace/bitstream/2013/372930/1/doi_356574.pdf

المؤلفون: De Bleecker, Jan L., Remiche, Gauthier, Alonso Jimenez, Alicia, Van Parys, Vinciane, Bissay, Veronique, Delstanche, Stephanie, Claeys, Kristl G.

المصدر: 0300-9009 ; Acta neurologica Belgica

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/001206056200001

الاتاحة: https://hdl.handle.net/10067/2060290151162165141
https://repository.uantwerpen.be/docstore/d:irua:23651

المؤلفون: Allen, Nicholas M., O’Rahelly, Mark, Eymard, Bruno, Chouchane, Mondher, Hahn, Andreas, Kearns, Gerry, Kim, Dae-Seong, Byun, Shin Yun, Nguyen, Cam-Tu Emilie, Schara-Schmidt, Ulrike, Kölbel, Heike, Marina, Adela Della, Schneider-Gold, Christiane, Roefke, Kathryn, Thieme, Andrea, Van den Bergh, Peter, Avalos, Gloria, Álvarez-Velasco, Rodrigo, Natera-de Benito, Daniel, Cheng, Man Hin Mark, Chan, Wing Ki, Wan, Hoi Shan, Thomas, Mary Ann, Borch, Lauren, Lauzon, Julie, Kornblum, Cornelia, Reimann, Jens, Mueller, Andreas, Kuntzer, Thierry, Norwood, Fiona, Ramdas, Sithara, Jacobson, Leslie W., Jie, Xiaobo, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Lim, Ming, Lin, Jean Pierre, Claeys, Kristl G., Aktas, Selma, Oskoui, Maryam, Hacohen, Yael, Masud, Ameneh, Leite, M Isabel, Palace, Jacqueline, De Vivo, Darryl, Vincent, Angela, Jungbluth, Heinz

مصطلحات موضوعية: myasthenia gravis, arthrogryposis multiplex congenita, fetal acetylcholine receptor inactivation syndrome, transient neonatal myasthenia gravis, congenital myopathy, salbutamol

وصف الملف: application/pdf

Relation: Brain; Allen, Nicholas M, O’Rahelly, Mark, Eymard, Bruno, Chouchane, Mondher, Hahn, Andreas, Kearns, Gerry, Kim, Dae-Seong, Byun, Shin Yun, Nguyen, Cam-Tu Emilie, Schara-Schmidt, Ulrike, Kölbel, Heike, Marina, Adela Della, Schneider-Gold, Christiane, Roefke, Kathryn, Thieme, Andrea, Van den Bergh, Peter, Avalos, Gloria, Álvarez-Velasco, Rodrigo, Natera-de Benito, Daniel, Cheng, Man Hin Mark, Chan, Wing Ki, Wan, Hoi Shan, Thomas, Mary Ann, Borch, Lauren, Lauzon, Julie, Kornblum, Cornelia, Reimann, Jens, Mueller, Andreas, Kuntzer, Thierry, Norwood, Fiona, Ramdas, Sithara, Jacobson, Leslie W, Jie, Xiaobo, Fernandez-Garcia, Miguel A, Wraige, Elizabeth, Lim, Ming, Lin, Jean Pierre, Claeys, Kristl G., Aktas, Selma, Oskoui, Maryam, Hacohen, Yael, Masud, Ameneh, Leite, M Isabel, Palace, Jacqueline, De Vivo, Darryl, Vincent, Angela, Jungbluth, Heinz. (2023). The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD). Brain, 146(10), 4233-4246. doi:10.1093/brain/awad153; http://hdl.handle.net/10379/18015

الاتاحة: http://hdl.handle.net/10379/18015
https://doi.org/10.1093/brain/awad153

المؤلفون: De Wel, Bram, Huysmans, Lotte, Peeters, Ronald, Ghysels, Stefan, Byloos, Kris, Putzeys, Guido, Maes, Frederik, Dupont, Patrick, Claeys, Kristl G.

المساهمون: KU Leuven, Vlaamse regering

المصدر: Journal of Cachexia, Sarcopenia and Muscle ; ISSN 2190-5991 2190-6009

الاتاحة: http://dx.doi.org/10.1002/jcsm.13528
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcsm.13528

المؤلفون: Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario

المصدر: Journal of Neurology ; volume 271, issue 4, page 2147-2148 ; ISSN 0340-5354 1432-1459

الاتاحة: https://doi.org/10.1007/s00415-023-12178-z
https://link.springer.com/content/pdf/10.1007/s00415-023-12178-z.pdf
https://link.springer.com/article/10.1007/s00415-023-12178-z/fulltext.html

المؤلفون: Bril, Vera, Hussain, Yessar, Gwathmey, Kelly, Sahagian, Gregory, Habib, Ali, Claeys, Kristl, Cortes-Vicente, Elena, Brauer, Edward, Gelinas, Deborah, Sumbul, Anne, Jimenez, Rosa, Hristova, Daniela, Mantegazza, Renato

المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000206537

المؤلفون: Kushlaf, Hani, Bratkovic, Drago, Byrne, Barry, Claeys, Kristl, Diaz-Manera, Jordi, Dimachkie, Mazen, Kishnani, Priya, Roberts, Mark, Toscano, Antonio, Castelli, Jeff, Holdbrook, Frederick, Das, Sheela, Wasfi, Yasmine, Schoser, Benedikt, Mozaffar, Tahseen

المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000205078

المؤلفون: Dubuisson, Nicolas, Claeys, Kristl, Schoser, Benedikt

المصدر: Frontiers in Neurology ; volume 15 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2024.1370538
https://www.frontiersin.org/articles/10.3389/fneur.2024.1370538/full