Serum Biomarkers of Vascular Involvement in Childhood Uveitis.

Autor: Kouwenberg CV; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Kuiper JJW; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.; Center for Translational Immunology, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands., de Boer JH; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Kalinina Ayuso V; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.

Publikováno v: Translational vision science & technology [Transl Vis Sci Technol] 2024 Apr 02; Vol. 13 (4), pp. 9.

The Role of the Retinal Nerve Fiber Layer Thickness on OCT in the Evaluation of Papillitis in Childhood Uveitis.

Autor: Kouwenberg CV; From the Department of Ophthalmology (C.V.K., L.A.B., I.B., J.H.dB., V.K.-K.A), University Medical Center Utrecht, Utrecht, Netherlands. Electronic address: C.V.Kouwenberg-3@umcutrecht.nl., Blom LA; Faculty of Medicine (L.A.B., S.E.V.), Utrecht University, Utrecht, Netherlands., Vellinga SC; Faculty of Medicine (L.A.B., S.E.V.), Utrecht University, Utrecht, Netherlands., Bozkir I; From the Department of Ophthalmology (C.V.K., L.A.B., I.B., J.H.dB., V.K.-K.A), University Medical Center Utrecht, Utrecht, Netherlands., de Boer JH; From the Department of Ophthalmology (C.V.K., L.A.B., I.B., J.H.dB., V.K.-K.A), University Medical Center Utrecht, Utrecht, Netherlands., Ayuso VK; From the Department of Ophthalmology (C.V.K., L.A.B., I.B., J.H.dB., V.K.-K.A), University Medical Center Utrecht, Utrecht, Netherlands.

Publikováno v: American journal of ophthalmology [Am J Ophthalmol] 2023 Oct; Vol. 254, pp. 62-68. Date of Electronic Publication: 2023 May 05.

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.

Clinical Course and Outcome in Pediatric Idiopathic Chronic Anterior Uveitis.

Autor: Kouwenberg CV; From the Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: C.V.Kouwenberg-3@umcutrecht.nl., Wennink RAW; From the Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Shahabi M; From the Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Bozkir I; From the Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Ayuso VK; From the Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., de Boer JH; From the Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.

Publikováno v: American journal of ophthalmology [Am J Ophthalmol] 2022 Sep; Vol. 241, pp. 198-205. Date of Electronic Publication: 2022 May 02.

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Autor: Scalco RS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK., 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; Dept. of Conegliano-Pieve Di Soligo, IRCCS Medea Scientific Insitute, Bosisio Parini, Italy., Vavla M; Dept. of Conegliano-Pieve Di Soligo, IRCCS Medea Scientific Insitute, Bosisio Parini, Italy., Reni G; Dept. of Conegliano-Pieve Di Soligo, IRCCS Medea Scientific Insitute, Bosisio Parini, 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., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kouwenberg CV; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Laforêt P; Nord/Est/Ile de France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Teaching Hospital, Garches. AP-HP. INSERM U1179, END-ICAP, Paris Saclay University, Paris, France., San-Millán B; Pathology Deparment, Alvaro Cunqueiro Hospital, Vigo, Spain.; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain., Vieitez I; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 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., Stemmerik MG; Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark., 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; 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., 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 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark. john.vissing@regionh.dk.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Nov 24; Vol. 15 (1), pp. 330. Date of Electronic Publication: 2020 Nov 24.