Zobrazeno 1 - 10
of 296
pro vyhledávání: '"Løkken, N."'
Autor:
Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Khawajazada T; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Slipsager A; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Nov; Vol. 46 (6), pp. 1139-1146. Date of Electronic Publication: 2023 Jul 17.
Autor:
Jacobsen LN; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Stemmerik MG; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Skriver SV; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Pedersen JJ; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Apr; Vol. 31 (4), pp. e16207. Date of Electronic Publication: 2024 Jan 25.
Autor:
Karazi W; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Coppers J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Maas D; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Cup E; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Bloemen B; Department for Health Evidence, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Voet N; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pinós T; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain., Marti Seves R; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain., Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK., Løkken N; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Bhai S; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian, Dallas, TX, USA., Wakelin A; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian, Dallas, TX, USA., Reason S; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian, Dallas, TX, USA., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (1), pp. 103-116.
Autor:
Slipsager A; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Andersen LK; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands., Lucia A; Physical Activity Health Research Group (PaHerg), Research Institute of Hospital 12 de Octubre ('i+12'). Madrid, Spain; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain., Karazi W; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands., Santalla A; Universidad Pablo de Olavide, Seville, Spain., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. Electronic address: Nicoline.Loekken@regionh.dk.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 19-26. Date of Electronic Publication: 2023 Nov 11.
Autor:
Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. Electronic address: Nicoline.Loekken@regionh.dk., Nielsen MR; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark., Stemmerik MG; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Ellerton C; The Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Revsbech KL; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark., Macrae M; The Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Slipsager A; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Krett B; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark., Beha GH; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark., Emanuelsson F; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark., van Hall G; Clinical Metabolomics Core Facility, Clinical Biochemistry, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark; Department of Biomedical Sciences, Faculty of Health & Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Quinlivan R; The Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical nutrition (Edinburgh, Scotland) [Clin Nutr] 2023 Nov; Vol. 42 (11), pp. 2124-2137. Date of Electronic Publication: 2023 Sep 20.
Autor:
Karazi W; Neuromuscular Center Nijmegen, Department of Neurology, 910, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Scalco RS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK., Stemmerik MG; Copenhagen Neuromuscular Center, Section 8077, , Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark., Løkken N; Copenhagen Neuromuscular Center, Section 8077, , Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark., Lucia A; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.; Instituto de Investigación Hospital, 12 de Octubre (imas12), Madrid, Spain., Santalla A; Instituto de Investigación Hospital, 12 de Octubre (imas12), Madrid, Spain.; Universidad Pablo de Olavide, Seville, Spain., Martinuzzi A; Departments of Neurorehabilitation, IRCCS Medea Scientifc Insitute, Conegliano-Pieve Di Soligo, Italy., Vavla M; Departments of Neurorehabilitation, IRCCS Medea Scientifc Insitute, Conegliano-Pieve Di Soligo, Italy., Reni G; Department of Information Technology, Autonomous Province of Bolzano, Bolzano, Italy., Toscano A; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Musumeci O; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Kouwenberg CV; Neuromuscular Center Nijmegen, Department of Neurology, 910, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Laforêt P; Neurology Department, Raymond Poincaré University Hospital, APHP, Garches, France., Millán BS; Pathology Department, Alvaro Cunqueiro Hospital, Vigo, Spain.; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGASUVIGO, Vigo, Spain., Vieitez I; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGASUVIGO, Vigo, Spain., Siciliano G; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Kühnle E; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bochum, Bochum, Germany., Trost R; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bochum, Bochum, Germany., Sacconi S; Peripheral Nervous System and Muscle Department, CHU Nice, Université Côte D'Azur, Institute for Research On Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Faculty of Medicine, Université Côte D'Azur (UCA), Nice, France., Durmus H; Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kierdaszuk B; Department of Neurology, Medical University of Warsaw, Warsaw, Poland., Wakelin A; Association for Glycogen Storage Disease (UK), Bristol, UK., Andreu AL; EATRIS, European Infrastructure for Translational Medicine, 1081 HZ, Amsterdam, The Netherlands., Pinós T; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain., Marti R; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain., Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK., Vissing J; Copenhagen Neuromuscular Center, Section 8077, , Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark., Voermans NC; Neuromuscular Center Nijmegen, Department of Neurology, 910, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. nicol.voermans@radboudumc.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 25; Vol. 18 (1), pp. 210. Date of Electronic Publication: 2023 Jul 25.
Autor:
Storgaard JH; Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Løkken N; Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Madsen KL; Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Voermans NC; Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Laforêt P; Nord/Est/Ile de France Neuromuscular Reference Center, FHU PHENIX, INSERM U1179, Neurology Department, Raymond-Poincaré Teaching Hospital, Garches, AP-HP, Paris Saclay University, France., Nadaj-Pakleza A; Centre de Référence des Maladies Neuromusculaires Nord / Est / Ile-de-France, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Tard C; Centre de référence des maladies rares neuromusculaires, Nord Est Ile de France, U1171, Hôpital Salengro, CRU de Lille, Lille, France., van Hall G; Clinical Metabolomics Core Facility, Clinical Biochemistry, Righospitalet & Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Ørngreen MC; Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 May; Vol. 45 (3), pp. 517-528. Date of Electronic Publication: 2022 Feb 04.
Autor:
Astrea, G., Battini, R., Berardinelli, A., Bertini, E., Bruno, C., Catteruccia, M., Comi, G.P., D’Amico, A., Fattori, F., Fiorillo, C., Magri, F., Mercuri, E., Messina, S., Mongini, T., Mora, M., Morani, F., Moro, F., Pane, M., Pegoraro, E., Pini, A., Politano, L., Ricci, F., Sframeli, M., Toscano, A., Santorelli, F.M., Lenzi, S., Bello, L., Corti, S., Donati, M.A., Tubili, F., Morrone, A., la Marca, G., Daniotti, M., Evoli, A., Ferlini, A., Garibaldi, M., Rendu, J., Brocard, J., Lacene, E., Fauré, J., Brochier, G., Beuvin, M., Labasse, C., Madelaine, A., Malfatti, E., Bevilacqua, J.A., Lubieniecki, F., Monges, S., Taratuto, A.L., Laporte, J., Marty, I., Antonini, G., Romero, N.B., M.L.*, Lombardo, Maggi, L., Mirabella, M., Musumeci, O., Paoletti, M., Pichiecchio, A., Pennisi, E.M., Ricci, G., Rodolico, C., Marchese, M., Siciliano, G., Tasca, G., Mele, F., Ruggiero, L., Vercelli, L., Bettio, C., Tripodi, S., Govi, M., Bucci, E., Di Muzio, A., Scarlato, M., Villa, L., D’Angelo, G., Filosto, M., Piras, R., Maioli, M.A., Massa, R., Previtali, S., Angelini, C., Moggio, M., Santoro, L., Tomelleri, G., Tupler, R., Udd, B., Sera, F., Maranda, L., Vianello, A., Vissing, J., Zeviani, M., Barp, A., Laforet, P., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J.A., Kynčl, M., Walter, M.C., Carlier, R.Y., Zambon, A.A., Albamonte, E., Baranello, G., Gandossini, S., Gualandi, F., Natali Sora, M.G., Politano, A., Sansone, V., Vita, G.L., Previtali, S.C., Villa, M., Fusto, A., Vianello, S., Merlo, B., Pedemonte, M., Tacchetti, P., Lanzillotta, V., Trucco, F., De Mattia, E., Rao, F., Calore, C., Hoffman, E.P., Morgenroth, L., Gordish-Dressman, H., McDonald, C.M., Costa, R., Rodia, M.T., Santi, S., Lattanzi, G., Papa, V., Pegoraro, V., Cenacchi, G., M, Sframeli, Ciranni, A., Versaci, A., Di Bella, V., Ferlazzo, V., Gitto, E., Aguennouz, M., Vita, G., Mendell, J.R., Al-Zaidy, S., Lehman, K.J., McColly, M., Lowes, L.P., Alfano, L.N., Miller, N.F., Iammarino, M.A., Church, K., Bernat Fuertes, M., Ogrinc, F.G., L’Italien, J., Kernbauer, E., Shah, S., Sproule, D.M., Feltner, D.E., Day, J.W., Chiriboga, C.A., Crawford, T.O., Darras, B.T., Finkel, R.S., Connolly, A.M., Iannaccone, S.T., Kuntz, N.L., Peña, L.D.M., Schultz, M., Shieh, P.B., Smith, E.C., Shah, A., Ouyang, H., Macek, T.A., Muehring, L.M., Kaspar, B.K., Masson, R., Servais, L., Deconinck, N., Klein, A., Darras, B., Kletzl, H., Cleary, H., El-Khairi, M., Seabrook, T., Czech, C., Gerber, M., Nguyen, C., Gelblin, K., Gorni, K., Rossi, R., Falzarano, M.F., Margutti, A., Spedicato, N., El Dani, R., Fabris, M., Neri, M., Fini, S., Rimessi, P., Johansson, C., Al-Khalili Szigyarto, C., Savarese, M., Johari, M., Jonson, P.H., Koivunen, S., Quareshi, T., Vihola, A., Hackman, P., Gemelli, C., Trevisan, L., Fabbri, S., Pisciotta, L., Meo, G., Traverso, M., Zara, F., Minetti, C., Schenone, A., Mandich, P., Grandis, M., C, Dosi, Cassandrini, D., Rubegni, A., Tolomeo, D., Giannini, F., Malandrini, A., Tonin, P., Volpi, N., Potter, R.A., Griffin, D.A., Heller, K.N., Rodino-Klapac, L.R., Salsi, V., Salani, M., Kaufman, P.D., Green, M.R., Vallarola, A., Termanini, A., Cortini, M., Ghiaroni, V., Forcato, M., Germinario, E., D’Antona, G., Blaauw, B., Genazzani, A.A., Filigheddu, N., Santoro, M., Cotti Piccinelli, S., Lamperti, C., Servidei, S., Santorelli, F.A., Simoncini, C., Primiano, G., Galvagni, A., Caria, F., Gallo Cassarino, S., Baldelli, E., Necchini, N., Carelli, V., Padovani, A., Mancuso, M., Verardo, M., Lupica, A., Ripolone, M., Vattemi, G., Sciacco, M., Nigro, V., Lucchini, M., De Arcangelis, V., De Fino, C., Santovito, L., Brigati, G., Diana, C., Panicucci, C., Broda, P., Nesti, C., Santorelli, F., Baronchelli, C., G, Greco, Frezza, E., Rastelli, E., Terracciano, C., Merlonghi, G., Pugliese, S., Tartaglione, T., Calabrò, F., Petrucci, A., M, Catteruccia, Colia, G., Bonetti, A.M., Carlesi, A., Bruno, G.M., Di Matteo, S., Valentino, M.C., Oselin, M., Martinotti, C., Xoxi, E., Colombo, G.L., Russo, A., LoMauro, A., Velardo, D., Turconi, A.C., Bresolin, N., Aliverti, A., D’Angelo, M.G., Ferrero, A., Rossi, M., Palermo, C., Giannotta, M., Rolle, E., Derchi, M., Gardani, A., Balottin, U., Giugliano, T., Torella, A., Garofalo, A., Onore, M.E., Del Vecchio Blanco, F., Piluso, G., Selvatici, R., Trabanelli, C., Buldrini, B., Venturoli, A., Fortunato, F., Potulska, A., Emandi, A.C., Lehman, I., Herczegfalvi, A., Guergueltcheva, V., Kyriakides, T., Sifi, Y., Molnar, M.J., Burnyte, B., Shatillo, A., Vlodavets, D., F.1, Gualandi, Scali, M., Ciscato, P., Menni, F., Mani, E., Falzarano, M.S., Baratto, S., Nesich, V., Iacomino, M., Castiglione, V., Giannoni, A., Florio, F., Rocchi, A., Emdin, M., Fratazzi, C., Naughton, E., Krenz, H., Distefano, M.G., Madia, F., Mauri, E., Ronchi, D., Govoni, A., Brusa, R., Zangaro, V., Lazzarotto, A., Fanin, M., Picillo, E., Ergoli, M., Principi, E., Del Zotto, G., Antonini, F., Ognio, M., Bruzzone, S., Gazzerro, E., Raffaghello, L., Lai, E., Torri, F., Chico, L., Fuccillo, E., Nucera, G., Greco, G., Di Mauro, R., Di Girolamo, S., Siliquini, S., Meneri, M., Cinnante, C., Triulzi, F., Vergari, M., Cogiamanian, F., Stocchetti, N., Calderini, E., Sansone, V.A., Corti, S.P., Pera, M.C., Kirschner, J., Goemans, N., Tichy, M., Yeung, W.Y., Annoussamy, M., Cleary, Y., Carraro, E., Salmin, F., Lunetta, C., Comi, G., Sconfienza, L.M., Manenti, G.F., Valeria, V., Morettini, V., Gagliano, N., Bonanno, S., Marcuzzo, S., Malacarne, C., Giagnorio, E., Zanin, R., Andreetta, F., Simoncini, O., Bernasconi, P., Mantegazza, R., Cherchi, C., Chiarini Testa, M.B., Bonetti, A., Rollo, M., Bianchi, R., Longo, A., Nicita, F., Corsetti, T., Cutrera, R., Bruno, G., Allegorico, L., Lombardi, L., Napolitano, F., Sampaolo, S., Bertocci, G., Guglielmi, V., Matà, S., Federico, A., Merlini, L., Matucci-Cerinic, C., Fionda, L., Vanoli, V., Leonardi, L., Loreti, S., Morino, S., Micaloni, A., Raffa, S., Blasio, G., Varone, A., Marrosu, G., Moroni, I., Fusco, C., Sabatelli, P., Morandi, L., Grilli, A., Bicciato, S., Palmio, J., Poza, J.J., Weinberg, J., Olive, M., Cobo, A.M., Sarparanta, J., García-Bragado, F., Gibertini, S., Saredi, S., Matalonga, L., Farina, L., Ardissone, A., Caumo, L., Bozzoni, V., Cester, G., Gabrieli, J., Causin, F., Sorarù, G., Galatolo, D., D’Amore, F., Doccini, S., Giglio, S., Pantaleo, M., Guarducci, S., Telese, R., De Rosa, A., Napoli, L., Fagiolari, G., Montomoli, M., Mancardi, M.M., Mari, F., Morana, G., Guerrini, R., Arceri, S., Ravaglia, S., Cosentino, G., Alfonsi, E., Pugliese, A., Volta, S., Oteri, R., Della Marca, G., Brunetti, V., Sancricca, C., Vollono, C., Macone, A., Missaglia, S., Noguera, N.I., Palma, E., Tavian, D., Pennisi, E.M.M., Tavilla, G., DiSfetano, M.G., Di Iorio, G., Melone, M.A.B., Esposito, T., Tartara, A., Cena, H., Stefan, C., Brondani, G., Trevisi, E., Martinuzzi, A., Brizzi, T., Peverelli, L., Legati, A., Lamantea, E., Nasca, A., Marchet, S., Lerario, A., Galimberti, V., Ghezzi, D., Vitale, R., Antonio Toscano, A., Sacchini, M., D’Angelo, R., Boschetti, E., Caporali, L., Lodi, R., Pironi, L., De Giorgio, R., Rinaldi, R., Fernandez-Vizarra, E., Tiranti, V., Pinzan, E., Marozzo, R., Montano, V., Calì Cassi, L., Botta, A., Silvestri, G., Cintoni, M., Pulcini, G., Palombi, C., Salvia, M., Tammam, G., De Lorenzo, A., Carlesi, D., Diodato, D., Bonanno, C., Nicocia, G., Foti, F.M., Ricciardi, R., Bocci, T., Maestri, M., Guida, M., Bonuccelli, U., Vanoli, F., Di Pasquale, A., Vizzaccaro, E., Sinicropi, S., Pancheri, E., Sajeva, G., Goffi, F., Zanoni, M., Bertolasi, L., Abati, E., Girolamo, F., Lia, A., Giannini, M., Fornaro, M., Amati, A., D’Abbicco, D., Tampoia, M., Serlenga, L., Iannone, F., Trojano, M., Frigeri, A., Ticci, C, Battisti, C., Melani, F., Alì, G., Sartucci, F., Ceppa, I., Dosi, C., Baldacci, J., Dati, E., Frosini, S., Conte, R., Calderisi, M., Sansone, F., Diodato, G., Pala, A.P., Scudellari, M.C., Tonacci, A., Ceppa, C., Giorgolo, F., Marfisi, D., Del Bo, R., Faravelli, I., Gagliardi, D., Costamagna, G., Torrente, Y., Malcontenti, S., Coluccini, M., Perazza, S., Amador, C., Grande, A., Roccella, S., Spezzaneve, A., Fantacci, M.E., Iori, E., Ariatti, A., Mazzoli, M., Fini, N., Genovese, M., Galassi, G., Sette, E., Tugnoli, V., Rispoli, M.G., Mero, S., Vitale, M., Barbone, F., Di Stefano, V., De Angelis, M.V., Ruggieri, A., Cauley, E.S., Spivey, T., Manzini, M.C., Orlandi, R., Gajofatto, A.
Publikováno v:
Acta Myologica
GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myast
Autor:
Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, DK-2200 Copenhagen, Denmark., Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands., Andersen LK; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark., Karazi W; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands., Reason SL; International Association for Muscle Glycogen Storage Disease, Torrance, CA 90505, USA., Zweers H; Department of Gastroenterology and Hepatology-Dietetics, Radboudumc, 6500 HB Nijmegen, The Netherlands., Wilms G; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark., Santalla A; Department of Sport and Computer Science, Section of Physical Education and Sports, Faculty of Sport, Universidad Pablo de Olavide, 41013 Seville, Spain., Susanibar E; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark., Lucia A; Faculty of Sport Sciences, Universidad Europea de Madrid, 28670 Madrid, Spain.; Physical Activity Health Research Group (PaHerg), Research Institute of Hospital 12 de Octubre ('i+12'), 28040 Madrid, Spain., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, DK-2200 Copenhagen, Denmark.
Publikováno v:
Nutrients [Nutrients] 2023 Feb 07; Vol. 15 (4). Date of Electronic Publication: 2023 Feb 07.
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S185-S185