المؤلفون: M. Villarreal-Salazar, A. Santalla, A. Real-Martínez, G. Nogales-Gadea, P.L. Valenzuela, C. Fiuza-Luces, A.L. Andreu, J.C. Rodríguez-Aguilera, M.A. Martín, J. Arenas, J. Vissing, A. Lucia, T.O. Krag, T. Pinós

المصدر: Molecular Metabolism, Vol 66, Iss , Pp 101648- (2022)

مصطلحات موضوعية: McArdle disease, Skeletal muscle, Glycogen, Aerobic capacity, Cytoskeleton and mitochondrial network, Internal medicine, RC31-1245

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2212877822002174Test; https://doaj.org/toc/2212-8778Test

الوصول الحر: https://doaj.org/article/67e2df6ed2dd482e987856afa9e518a0Test

المؤلفون: A. T. van der Ploeg, M. Ую Kruijshaar, A. Toscano, P. Laforet, C. Angelini, R. H. Lachmann, S. I. Pascual Pascual, M. Roberts, K. Rosler, T. Stulnig, P. A. van Doorn, P.Y. K. Van den Bergh, J. Vissing, B. Schoser

المصدر: Нервно-мышечные болезни, Vol 8, Iss 4, Pp 19-34 (2019)

مصطلحات موضوعية: взрослые пациенты, алглюкозидаза альфа, ферментная заместительная терапия, руководство, болезнь помпе, рекомендации по лечению, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://nmb.abvpress.ru/jour/article/view/301Test; https://doaj.org/toc/2222-8721Test; https://doaj.org/toc/2413-0443Test

الوصول الحر: https://doaj.org/article/ce2d7bf9e8664d6a848167c86ae07198Test

المؤلفون: N. Witting, D. Daugaard, S. Prytz, H. Biernat, L. P. Diederichsen, J. Vissing

المصدر: Journal of Neurology. 269:4154-4160

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f8010f87724f4edc9f1f227b84e67a89Test
https://doi.org/10.1007/s00415-022-11028-8Test

المؤلفون: N.C. Voermans, M. Vriens-Munoz Bravo, G.W. Padberg, P. Laforêt, N. van Alfen, S. Attarian, U.A. Badrising, E. Bugiardini, P. Camano González, R.Y. Carlier, I. Desguerre, J. Diaz-Manera, J. Dumonceaux, B.G. van Engelen, T. Evangelista, S. Khosla, A. López de Munain, S.M. van der Maarel, A. Mejat, M. Monforte, F. Montagnese, K. Mul, P. Oflazer, B. Porter, S. Quijano-Roy, E. Ricci, S. Sacconi, V.A. Sansone, B. Schoser, J. Statland, E. Stumpe, G. Tasca, R. Tawil, C. Turner, J. Vissing

المصدر: Neuromuscular Disorders, 31, 907-918
Neuromuscular Disorders, 31, 9, pp. 907-918

مصطلحات موضوعية: Gerontology, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1c5a1ec31a3584b8c54220e6014cecTest
https://doi.org/10.1016Test/j.nmd.2021.07.013

المؤلفون: I. Flensted, C. Vissing, M. Stemmerik, S. Skriver, K. Axelsen, H. Bundgaard, J. Vissing

المصدر: Neuromuscular Disorders. 32:S45-S46

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7d7fe4ad39f3755a65b951b70c4616beTest
https://doi.org/10.1016Test/j.nmd.2022.07.020

المؤلفون: M. Stemmerik, G. Beha, V. Boer, A. Marsman, L. Jacobsen, E. Petersen, J. Vissing

المصدر: Neuromuscular Disorders. 32:S73-S74

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::65fe2596f47349e50b94789e23bc88bcTest
https://doi.org/10.1016Test/j.nmd.2022.07.133

المؤلفون: K. Axelsen, R. Andersen, J. Vissing, N. Witting

المصدر: Neuromuscular Disorders. 32:S81-S82

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3322b77ad2d36db19e5a74dc5092d208Test
https://doi.org/10.1016Test/j.nmd.2022.07.167

المؤلفون: Jos G.M. Hendriksen, Mathula Thangarajh, Hermien E. Kan, Francesco Muntoni, Dr. Y. Aoki, Dr P. Collin, Dr M. Colvin, Dr N. Doorenweerd, Prof A. Ferlini, Dr A. Goyenvalle, Dr J.J. Hendriksen, Dr J. Hoskin, Dr H.E. Kan, Mr F. Lamy, Dr K. Maresh, Prof F. Muntoni, Dr E.H. Niks, Prof U. Schara, Prof D. Skuse, Prof V. Straub, Prof S. Takeda, Dr M. Thangarajh, Dr N. Truba, Prof S. Tyagarajan, Dr C. Vaillend, Dr M. van Putten, Prof J. Vissing, E. Vroom

المساهمون: Institut des Neurosciences Paris-Saclay (NeuroPSI), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), European Neuromuscular Centre (ENMC) and ENMC main sponsors

المصدر: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2020, 30 (9), pp.782-794. ⟨10.1016/j.nmd.2020.08.357⟩
Neuromuscular Disorders, 30(9), 782-794. PERGAMON-ELSEVIER SCIENCE LTD

مصطلحات موضوعية: Duchenne muscular dystrophy, musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Translational research, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Dystrophin, 03 medical and health sciences, Cognition, 0302 clinical medicine, Physical medicine and rehabilitation, Medicine, Clinical care, Muscular dystrophy, Genetics (clinical), Behavior, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, biology, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology, Central nervous system, Becker muscular dystrophy, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575f77fed85a047101751fd1582bb226Test
https://doi.org/10.1016Test/j.nmd.2020.08.357

المؤلفون: Mikus, M.S. Kolmert, J. Andersson, L.I. Östling, J. Knowles, R.G. Gómez, C. Ericsson, M. Thörngren, J.-O. Khoonsari, P.E. Dahlén, B. Kupczyk, M. de Meulder, B. Auffray, C. Bakke, P.S. Beghe, B. Bel, E.H. Caruso, M. Chanez, P. Chawes, B. Fowler, S.J. Gaga, M. Geiser, T. Gjomarkaj, M. Horváth, I. Howarth, P.H. Johnston, S.L. Joos, G. Krug, N. Montuschi, P. Musial, J. Niżankowska-Mogilnicka, E. Olsson, H.K. Papi, A. Rabe, K.F. Sandström, T. Shaw, D.E. Siafakas, N.M. Uhlén, M. Riley, J.H. Bates, S. Middelveld, R.J.M. Wheelock, C.E. Chung, K.F. Adcock, I.M. Sterk, P.J. Djukanovic, R. Nilsson, P. Dahlén, S.-E. James, A. Ahmed, H. Balgoma, D. Bansal, A.T. Baribaud, F. Bigler, J. Billing, B. Bisgaard, H. Boedigheimer, M.J. Bønnelykke, K. Brandsma, J. Brinkman, P. Bucchioni, E. Burg, D. Bush, A. Chaiboonchoe, A. Checa, T. Compton, C.H. Corfield, J. Cunoosamy, D. D’Amico, A. Emma, R. Erpenbeck, V.J. Erzen, D. Fichtner, K. Fitch, N. Fleming, L.J. Formaggio, E. Frey, U. Gahlemann, M. Goss, V. Guo, Y.-K. Hashimoto, S. Haughney, J. Hedlin, G. Hekking, P.-P.W. Higenbottam, T. Hohlfeld, J.M. Holweg, C.T.J. Knox, A.J. Konradsen, J. Lazarinis, N. Lefaudeux, D. Li, T. Loza, M.J. Lutter, R. Manta, A. Masefield, S. Matthews, J.G. Mazein, A. Meiser, A. Miralpeix, M. Mores, N. Murray, C.S. Myles, D. Naz, S. Nordlund, B. Pahus, L. Pandis, I. Pavlidis, S. Postle, A. Powel, P. Rao, N. Reinke, S. Roberts, A. Roberts, G. Rowe, A. Schofield, J.P.R. Seibold, W. Selby, A. Sigmund, R. Singer, F. Sjödin, M. Skipp, P.J. Sousa, A.R. Sun, K. Thornton, B. Uddin, M. van Aalderen, W.M. van Geest, M. Vestbo, J. Vissing, N.H. Wagener, A.H. Wagers, S.S. Weiszhart, Z. Wheelock, C.E. Wheelock, Å. Wilson, S.J. Yasinska, V. Brusselle, G.G. Campbell, D.A. Contoli, M. Damm, K. de Rudder, I. Delin, I. Devautour, C. Duplaga, M. Eduards, M. Ek, A. Ekström, T. Figiel, E. Gaber, F. Gauw, S. Gawlewicz-Mroczka, A. Gerding, D. Haque, S. Hewitt, L. Hiemstra, P.S. Holgate, S.T. Holloway, J. Kania, A. Kanniess, F. Karlsson, Ö. Kips, J.C. Kumlin, M. Lantz, A.-S. Lazarinis, N. Magnussen, H. Mallia, P. Martling, I. Meziane, L. Oikonomidou, E. Olsson, M. Pace, E. Papadopouli, E. Papadopoulos, N. Plataki, M. Profita, M. Reinius, L.E. Richter, K. Robinson, D.S. Romagnoli, M. Samara, K. Schelfhout, V. Skedinger, M. Stamataki, E. ten Brinke, A. Vachier, I. Wallén-Nielsen, E. van Veen, I. Weersink, E. Wilson, S.J. Yasinska, V. Zervas, E. Ziolkowska-Graca, B. U-BIOPRED (Unbiased Biomarkers for the Prediction of Respiratory Disease outcome) Study Group BIOAIR (Longitudinal Assessment of Clinical Course Biomarkers in Severe Chronic Airway Disease) Consortium

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::6f3a337b59e2317ed59ff73b6f19721bTest
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3100415Test

المؤلفون: N, Witting, D, Daugaard, S, Prytz, H, Biernat, L P, Diederichsen, J, Vissing

المصدر: Journal of neurology. 269(8)

مصطلحات موضوعية: Muscular Dystrophy, Oculopharyngeal, Neuromuscular Agents, Humans, Water, Prospective Studies, Botulinum Toxins, Type A, Deglutition Disorders, Myositis, Inclusion Body

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f4aee9f7ca0450e5137b1179ee394ae6Test
https://pubmed.ncbi.nlm.nih.gov/35244767Test