المؤلفون: Deenen, Johanna C. W.^{Aff1, Aff2}, Kools, Joost, Greco, Anna^{Aff1, Aff4}, Thewissen, Renée, van de Put, Wiecke, Lanser, Anke, Joosten, Leo A. B.^{Aff4, Aff5}, Verbeek, Andre L. M., van Engelen, Baziel G. M., Voermans, Nicol C.^{Aff1, IDs13760023024433_cor10}

المصدر: Acta Neurologica Belgica. 124(2):559-566

المؤلفون: Töpf, Ana^{Aff1, IDs41588023016510_cor1}, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria^{Aff1, Aff3}, Sarparanta, Jaakko^{Aff4, Aff5}, Jonson, Per Harald^{Aff4, Aff5}, Sealy, Ian M.^{Aff6, Aff7}, Smolnikov, Andrei, White, Richard J.^{Aff6, Aff7}, Vihola, Anna^{Aff4, Aff5, Aff9}, Savarese, Marco^{Aff4, Aff5}, Merteroglu, Munise^{Aff6, Aff10}, Wali, Neha, Laricchia, Kristen M.^{Aff12, Aff13}, Venturini, Cristina, Vroling, Bas, Stenton, Sarah L.^{Aff12, Aff16}, Cummings, Beryl B., Harris, Elizabeth^{Aff1, Aff17}, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G.^{Aff27, Aff28}, Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R.^{Aff30, Aff31}, Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz^{Aff33, Aff34}, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar^{Aff38, Aff39}, Mongini, Tiziana E., Muelas, Nuria^{Aff38, Aff39, Aff41, Aff42}, Nishikawa, Atsuko, O’Donnell-Luria, Anne^{Aff12, Aff16}, 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.^{Aff30, Aff31}, 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.^{Aff38, Aff39}, MacArthur, Daniel G.^{Aff12, Aff56, Aff57}, Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne^{Aff4, Aff5, Aff9}, Busch-Nentwich, Elisabeth M.^{Aff6, Aff7}, Muntoni, Francesco^{Aff2, Aff59}, Straub, Volker^{Aff1, IDs41588023016510_cor85}

المصدر: Nature Genetics. 56(3):395-407

المؤلفون: Jungbluth, Heinz^{Aff1, Aff2, IDs00401024026870_cor1}, Famili, Dennis T., Helmich, Rick C., Previtali, Stefano, Voermans, Nicol C.

المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 147(1)

المؤلفون: Rossel, O., Chateaux, M., Jarrasse, N., Verite, F., Touillet, A., Nicol, C., Paysant, J., De Graaf, J.B.

المصدر: IEEE Transactions on Medical Robotics and Bionics IEEE Trans. Med. Robot. Bionics Medical Robotics and Bionics, IEEE Transactions on. 5(1):133-142 Feb, 2023

المؤلفون: Karazi, Walaa, Scalco, Renata S., Stemmerik, Mads G., Løkken, Nicoline, Lucia, Alejandro^{Aff4, Aff5}, Santalla, Alfredo^{Aff5, Aff6}, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V., Laforêt, Pascal, Millán, Beatriz San^{Aff11, Aff12}, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L., Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, Voermans, Nicol C.^{Aff1, IDs1302302302825z_cor28}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Dijkstra, Jildou N., Rasing, Nathaniël B., Boon, Helena T.M., Altena-Rensen, Sandra, Cup, Edith H.C., Lanser, Anke, Siemann, Ietske J., van Engelen, Baziel G., Erasmus, Corrie E., Voermans, Nicol C.

المصدر: In European Journal of Paediatric Neurology May 2024 50:64-73

المؤلفون: Stinissen, Lizan, Bouma, Sietse, Böhm, Johann, van Tienen, Jeno, Fischer, Holger, Hughes, Zak, Lennox, Anne, Ward, Erin, Wood, Marie, Foley, A. Reghan, Oortwijn, Wija, Jungbluth, Heinz, Voermans, Nicol C.

المصدر: In Neuromuscular Disorders May 2024 38:1-7

المؤلفون: Hubregtse, Lisanne, Bouman, Karlijn, Lama, Chéryane, Lassche, Saskia, de Graaf, Nicolas, Taglietti, Valentina, Küsters, Benno, Periou, Baptiste, Relaix, Frédéric, van Engelen, Baziel, Authier, François-Jerôme, Voermans, Nicol C., Malfatti, Edoardo

المصدر: In Neuromuscular Disorders March 2024 36:6-15

المؤلفون: Riazi, Sheila, Bersselaar, Luuk R.van den, Islander, Gunilla, Heytens, Luc, Snoeck, Marc M.J., Bjorksten, Andrew, Gillies, Robyn, Dranitsaris, George, Hellblom, Anna, Treves, Susan, Kunst, Gudrun, Voermans, Nicol C., Jungbluth, Heinz

المصدر: Neuromuscular Disorders. 32(8):628-634

مصطلحات موضوعية: (Exertional) rhabdomyolysis, Malignant hyperthermia, RYR1, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/a7a7e7ce-4fec-4bcb-9d60-3f034f7cb060
http://dx.doi.org/10.1016/j.nmd.2022.06.003

المؤلفون: Sanne C.C. Vincenten, Karlien Mul, Daniël vanAs, Julia J. Jansen, Linda Heskamp, Arend Heerschap, Baziel G.M. vanEngelen, Nicol C. Voermans

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 4, Pp 1695-1706 (2023)

مصطلحات موضوعية: FSHD, Muscle imaging, MRI, Biomarker, Clinical outcome, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

URL الوصول: https://doaj.org/article/9f75fa9bef2e4cbab604efb78a1219d3