Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

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.

Chloroquine-induced myopathy.

Autor: Posada C, García-Cruz A, García-Doval I, Millán BS, Teijeira S

Publikováno v: Lupus [Lupus] 2011 Jun; Vol. 20 (7), pp. 773-4. Date of Electronic Publication: 2011 Feb 07.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Autor: Viéitez I; University Hospital of Vigo, Spain. irenevigo@gmail.com, Teijeira S, Millán BS, Navarro C

Publikováno v: Human genetics [Hum Genet] 2009 Apr; Vol. 125 (3), pp. 337.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Autor: Viéitez I; University Hospital of Vigo, Spain. irenevigo@gmail.com, Teijeira S, Millán BS, Navarro C

Publikováno v: Human genetics [Hum Genet] 2009 Apr; Vol. 125 (3), pp. 339.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Autor: Viéitez I; University Hospital of Vigo, Spain., Teijeira S, Millán BS, Navarro C

Publikováno v: Human genetics [Hum Genet] 2009 Apr; Vol. 125 (3), pp. 338.