المؤلفون: Sezer, S, Cup, E.H.C., Roets-Merken, LM, Lanser, A, Siemann, I, Weikamp, JG, Mul, K, Engelen,van, BG, Satink, Ton, Voermans, NC

المساهمون: Neurorevalidatie, HAN University of Applied Sciences@@@Academie Paramedische Studies@@@Lectoraten

المصدر: Disability and Rehabilitation.

الوصول الحر: https://surfsharekit.nl/public/e457e04e-b482-4e59-9282-ad1ae8f5857dTest

الإتاحة: http://www.hbo-kennisbank.nl/en/page/hborecord.view/?uploadId=sharekit_han:oai:surfsharekit.nl:e457e04e-b482-4e59-9282-ad1ae8f5857dTest

المؤلفون: de Winter, JM, Molenaar, JP, Yuen, M, van der Pijl, R, Shen, S, Conijn, S, van de Locht, M, Willigenburg, M, Bogaards, SJP, van Kleef, ESB, Lassche, S, Persson, M, Rassier, DE, Sztal, TE, Ruparelia, AA, Oorschot, V, Ramm, G, Hall, TE, Xiong, Z, Johnson, CN, Li, F, Kiss, B, Lozano-Vidal, N, Boon, RA, Marabita, M, Nogara, L, Blaauw, B, Rodenburg, RJ, Kusters, B, Doorduin, J, Beggs, AH, Granzier, H, Campbell, K, Ma, W, Irving, T, Malfatti, E, Romero, NB, Bryson-Richardson, RJ, van Engelen, BGM, Voermans, NC, Ottenheijm, CAC

المصدر: The Journal of clinical investigation. 130(2):754-767

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142959827Test

المؤلفون: Töpf, A, Cox, D, Zaharieva, IT, Di Leo, V, Sarparanta, J, Jonson, PH, Sealy, IM, Smolnikov, A, White, RJ, Vihola, A, Savarese, M, Merteroglu, M, Wali, N, Laricchia, KM, Venturini, C, Vroling, B, Stenton, SL, Cummings, BB, Harris, E, Marini-Bettolo, C, Diaz-Manera, J, Henderson, M, Barresi, R, Duff, J, England, EM, Patrick, J, Al-Husayni, S, Biancalana, V, Beggs, AH, Bodi, I, Bommireddipalli, S, Bönnemann, CG, Cairns, A, Chiew, M-T, Claeys, KG, Cooper, ST, Davis, MR, Donkervoort, S, Erasmus, CE, Fassad, MR, Genetti, CA, Grosmann, C, Jungbluth, H, Kamsteeg, E-J, Lornage, X, Löscher, WN, Malfatti, E, Manzur, A, Martí, P, Mongini, TE, Muelas, N, Nishikawa, A, O'Donnell-Luria, A, Ogonuki, N, O'Grady, GL, O'Heir, E, Paquay, S, Phadke, R, Pletcher, BA, Romero, NB, Schouten, M, Shah, S, Smuts, I, Sznajer, Y, Tasca, G, Taylor, RW, Tuite, A, Van den Bergh, P, VanNoy, G, Voermans, NC, Wanschitz, JV, Wraige, E, Yoshimura, K, Oates, EC, Nakagawa, O, Nishino, I, Laporte, J, Vilchez, JJ, MacArthur, DG, Sarkozy, A, Cordell, HJ, Udd, B, Busch-Nentwich, EM, Muntoni, F, Straub, V

مصطلحات موضوعية: Animals, Humans, Male, Connectin, Muscle, Skeletal, Muscular Diseases, Mutation, Zebrafish

وصف الملف: 395 - 407

العلاقة: Nat Genet; Töpf, A., Cox, D., Zaharieva, I.T. et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet 56, 395–407 (2024). https://doi.org/10.1038/s41588-023-01651-0Test; https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test

الإتاحة: https://doi.org/10.1038/s41588-023-01651-0Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test

المؤلفون: Voermans, NC, Petersson, KM, Daudey, L, Weber, B, van Spaendonck, KP, Kremer, HPH, Fernandez, G

المصدر: Neuron. 43(3):427-435

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1943733Test

المؤلفون: Riazi, S, Bersselaar, LRVD, Islander, G, Heytens, L, Snoeck, MMJ, Bjorksten, A, Gillies, R, Dranitsaris, G, Hellblom, A, Treves, S, Kunst, G, Voermans, NC, Jungbluth, H

العلاقة: pii: S0960-8966(22)00172-9; Riazi, S., Bersselaar, L. R. V. D., Islander, G., Heytens, L., Snoeck, M. M. J., Bjorksten, A., Gillies, R., Dranitsaris, G., Hellblom, A., Treves, S., Kunst, G., Voermans, N. C. & Jungbluth, H. (2022). Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH). Neuromuscul Disord, 32 (8), pp.628-634. https://doi.org/10.1016/j.nmd.2022.06.003Test.; http://hdl.handle.net/11343/322409Test

الإتاحة: https://doi.org/10.1016/j.nmd.2022.06.003Test
http://hdl.handle.net/11343/322409Test

المؤلفون: Molenaar, JP, Verhoeven, JI, Rodenburg, RJ, Kamsteeg, EJ, Erasmus, CE, Vicart, S, Behin, A, Bassez, G, Magot, A, Péréon, Y, Brandom, BW, Guglielmi, V, Vattemi, G, Chevessier, F, Mathieu, J, Franques, J, Suetterlin, K, Hanna, MG, Guyant-Marechal, L, Snoeck, MM, Roberts, ME, Kuntzer, T, Fernandez-Torron, R, Martínez-Arroyo, A, Seeger, J, Kusters, B, Treves, S, van Engelen, BG, Eymard, B, Voermans, NC, Sternberg, D

المصدر: Brain , 143 (2) pp. 452-466. (2020)

مصطلحات موضوعية: ATP2A1, Brody disease, calcium, genotype, phenotype

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10092029/1/awz410.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10092029Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10092029/1/awz410.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10092029Test/

المؤلفون: Knuiman, GJ, Kusters, B, Eshuis, L, Snoeck, M, Lammens, M, Heytens, L, De Ridder, W, Baets, J, Scalco, RS, Quinlivan, R, Holton, J, Bodi, I, Wraige, E, Radunovic, A, von Landenberg, C, Reimann, J, Kamsteeg, E-J, Sewry, C, Jungbluth, H, Voermans, NC

المصدر: Journal of Neurology , 266 (4) pp. 876-887. (2019)

مصطلحات موضوعية: RYR1, Rhabdomyolysis, Malignant hyperthermia (MH), Muscle biopsy, Histology

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10079999/7/Quinlivan_The%20histopathological%20spectrum%20of%20malignant%20hyperthermia%20and%20rhabdomyolysis%20due%20to%20RYR1%20mutations_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10079999Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10079999/7/Quinlivan_The%20histopathological%20spectrum%20of%20malignant%20hyperthermia%20and%20rhabdomyolysis%20due%20to%20RYR1%20mutations_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10079999Test/

المؤلفون: Bachmann, C, Noreen, F, Voermans, NC, Schar, PL, Vissing, J, Fock, JM, Bulk, S, Kusters, B, Moore, SA, Beggs, AH, Matthews, KD, Meyer, M, Genetti, CA, Meola, G, Cardani, R, Matthews, E, Jungluth, H, Muntoni, F, Zorzato, F, Treves, S

المصدر: Human Mutation , 40 (7) pp. 962-974. (2019)

مصطلحات موضوعية: congenital myopathies, epigenetics, excitation–contraction coupling, gene expression, ryanodine receptor

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10071697/3/Bachmann_SEPN1%20changes%20accepted_03.03.19.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10071697Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10071697/3/Bachmann_SEPN1%20changes%20accepted_03.03.19.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10071697Test/

المؤلفون: Aktar, R, Peiris, M, Fikree, A, Eaton, S, Kritas, S, Kentish, SJ, Araujo, EJA, Bacarin, C, Page, AJ, Voermans, NC, Aziz, Q, Blackshaw, LA

المصدر: Journal of Physiology , 597 (6) pp. 1503-1515. (2019)

مصطلحات موضوعية: enteric neurones, gastric emptying, gastric hypersensitivity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10065542/7/Eaton_JP277195.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10065542Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10065542/7/Eaton_JP277195.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10065542Test/

المؤلفون: Kouwenberg, CV, Voermans, NC, Quinlivan, R, van den Engel-Hoek, L

المصدر: Journal of Neuromuscular Diseases , 5 (3) pp. 353-357. (2018)

مصطلحات موضوعية: McArdle disease, glycogen storage disease type V, mastication, oral motor function

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10059493/1/Quinlivan_Mastication%20and%20oral%20motor%20function%20in%20Mc%20Ardle%20disease%2027-03-2018rq.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10059493Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10059493/1/Quinlivan_Mastication%20and%20oral%20motor%20function%20in%20Mc%20Ardle%20disease%2027-03-2018rq.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10059493Test/