Zobrazeno 1 - 10
of 1 507
pro vyhledávání: '"Glycogen Storage Disease Type V"'
Autor:
Stalter J; Department of Neurology, Carl Von Ossietzky University Oldenburg, Oldenburg, Germany. Johannes.stalter@uni-oldenburg.de.; University Clinic of Neurology, Evangelical Hospital Oldenburg, Oldenburg, Germany. Johannes.stalter@uni-oldenburg.de., Gies U; Section of Clinical Neuropathology, Klinikum Bremen Mitte, Bremen, Germany., Mathys C; Institute of Radiology and Neuroradiology, Evangelical Hospital Oldenburg, University of Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, Oldenburg, Germany.; Department of Diagnostic and Interventional Radiology, University of Düsseldorf, Düsseldorf, Germany., Witt K; Department of Neurology, Carl Von Ossietzky University Oldenburg, Oldenburg, Germany.; University Clinic of Neurology, Evangelical Hospital Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, Oldenburg, Germany.
Publikováno v:
Journal of medical case reports [J Med Case Rep] 2024 Oct 08; Vol. 18 (1), pp. 465. Date of Electronic Publication: 2024 Oct 08.
Autor:
Hoxhaj D; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Via Roma 67, 56100, Pisa, Italy., Vadi G; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Via Roma 67, 56100, Pisa, Italy. vadi.gabriele@gmail.com., Bianchi L; Department of Internal Medicine, University of Genova, Genoa, Italy., Fontanelli L; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Via Roma 67, 56100, Pisa, Italy., Torri F; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Via Roma 67, 56100, Pisa, Italy., Siciliano G; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Via Roma 67, 56100, Pisa, Italy., Ricci G; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Via Roma 67, 56100, Pisa, Italy.
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Oct; Vol. 45 (10), pp. 4757-4765. Date of Electronic Publication: 2024 May 27.
Autor:
Abdul R; University of Melbourne, Parkville, Victoria, Australia., Fazio T; University of Melbourne, Parkville, Victoria, Australia; Royal Melbourne Hospital, Parkville, Victoria, Australia., Savige J; University of Melbourne, Parkville, Victoria, Australia., Mack HG; University of Melbourne, Parkville, Victoria, Australia. Electronic address: hmack@eyesurgery.com.au.
Publikováno v:
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie [Can J Ophthalmol] 2024 Aug; Vol. 59 (4), pp. e415-e419. Date of Electronic Publication: 2024 Mar 08.
Autor:
Stefanik E; Department of Animal Developmental Biology, Faculty of Biological Sciences, University of Wroclaw, Sienkiewicza 21, 50-335 Wrocław, Poland.. Electronic address: ewa.stefanik2@uwr.edu.pl., Dubińska-Magiera M; Department of Animal Developmental Biology, Faculty of Biological Sciences, University of Wroclaw, Sienkiewicza 21, 50-335 Wrocław, Poland.. Electronic address: magda.dubinska-magiera@uwr.edu.pl., Lewandowski D; Department of Animal Developmental Biology, Faculty of Biological Sciences, University of Wroclaw, Sienkiewicza 21, 50-335 Wrocław, Poland.. Electronic address: damian.lewandowski@uwr.edu.pl., Daczewska M; Department of Animal Developmental Biology, Faculty of Biological Sciences, University of Wroclaw, Sienkiewicza 21, 50-335 Wrocław, Poland.. Electronic address: malgorzata.daczewska@uwr.edu.pl., Migocka-Patrzałek M; Department of Animal Developmental Biology, Faculty of Biological Sciences, University of Wroclaw, Sienkiewicza 21, 50-335 Wrocław, Poland.. Electronic address: marta.migocka-patrzalek@uwr.edu.pl.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108532. Date of Electronic Publication: 2024 Jul 05.
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Autor:
Da Silva JD; Centro de Genética Médica Doutor Jacinto Magalhães (CGM), Centro Hospitalar Universitário de Santo António, Porto, Portugal. jorge.dcr.silva@gmail.com.; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal. jorge.dcr.silva@gmail.com.; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal. jorge.dcr.silva@gmail.com.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, Portugal. jorge.dcr.silva@gmail.com., Pereira Â; Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Hospital de Braga, Braga, Portugal., Soares AR; Centro de Genética Médica Doutor Jacinto Magalhães (CGM), Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, Portugal., Guimas A; Department of Internal Medicine, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Rocha S; Department of Internal Medicine, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Cardoso M; Unidade Corino de Andrade and Neurophysiology Department, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; European Reference Network-Neuromuscular Diseases ERN-NMD, Paris, France., Garrido C; Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; European Reference Network-Neuromuscular Diseases ERN-NMD, Paris, France., Soares CA; Centro de Genética Médica Doutor Jacinto Magalhães (CGM), Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, Portugal.; Departamento de Ciências Médicas, Universidade de Aveiro, Aveiro, Portugal., Nunes IS; Centro de Genética Médica Doutor Jacinto Magalhães (CGM), Centro Hospitalar Universitário de Santo António, Porto, Portugal., Fortuna AM; Centro de Genética Médica Doutor Jacinto Magalhães (CGM), Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, Portugal., Quelhas D; Centro de Genética Médica Doutor Jacinto Magalhães (CGM), Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, Portugal.; Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Figueiroa S; Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Ribeiro R; Department of Internal Medicine, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Santos M; Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; European Reference Network-Neuromuscular Diseases ERN-NMD, Paris, France., Martins E; Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Tkachenko N; Centro de Genética Médica Doutor Jacinto Magalhães (CGM), Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, Portugal.
Publikováno v:
Pediatric research [Pediatr Res] 2024 Jul; Vol. 96 (2), pp. 365-371. Date of Electronic Publication: 2023 Dec 05.
Autor:
Langbour C; Service de médecine interne, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex, France; Service de rhumatologie, CHRU de Tours, Tours, France. Electronic address: camille.langbour@etu.univ-tours.fr., Nicolas S; Service de médecine interne, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex, France., Bigot A; Service de médecine interne, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex, France., Chu Miow Lin D; Service de rhumatologie, CHRU de Tours, Tours, France., Baydoun S; Service de rhumatologie, CHRU de Tours, Tours, France., Blasco H; Laboratoire de biochimie, CHU de Tours, Tours, France; Université de Tours, Tours, France., Froissart R; Service de biochimie et biologie moléculaire, CHU de Lyon, Bron, France., Ferreira-Maldent N; Service de médecine interne, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex, France., Audemard-Verger A; Service de médecine interne, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex, France; Université de Tours, Tours, France., Maillot F; Service de médecine interne, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex, France; Université de Tours, Tours, France.
Publikováno v:
La Revue de medecine interne [Rev Med Interne] 2024 May; Vol. 45 (5), pp. 312-315. Date of Electronic Publication: 2024 Apr 25.
Autor:
Valenzuela PL; Physical Activity and Health Research Group ('PaHerg'), Research Institute of Hospital '12 de Octubre' ('imas12'), Madrid 28041, Spain; Department of Systems Biology, University of Alcalá, Madrid 28871, Spain. Electronic address: pedro.valenzuela92@gmail.com., Santalla A; Department of Sport and Computer Science, Section of Physical Education and Sports, Faculty of Sport, Universidad Pablo de Olavide, Sevilla 41013, Spain; EVOPRED Research Group, Universidad Europea de Canarias, Tenerife 38300, Spain., Alejo LB; Physical Activity and Health Research Group ('PaHerg'), Research Institute of Hospital '12 de Octubre' ('imas12'), Madrid 28041, Spain; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid 28670, Spain., Merlo A; Gait & Motion Analysis Laboratory, Sol et Salus Hospital, Torre Pedrera di Rimini (RN) 47922, Italy., Bustos A; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid 28670, Spain., Castellote-Bellés L; Department of Clinical Biochemistry, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona 08035, Spain., Ferrer-Costa R; Department of Clinical Biochemistry, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona 08035, Spain., Maffiuletti NA; Human Performance Lab, Schulthess Clinic, Zurich 8008, Switzerland., Barranco-Gil D; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid 28670, Spain., Pinós T; Biomedical Research Networking Center on Rare Disorders (CIBERER), Barcelona 08035, Spain; Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona 08035, Spain. Electronic address: tomas.pinos@vhir.org., Lucia A; Physical Activity and Health Research Group ('PaHerg'), Research Institute of Hospital '12 de Octubre' ('imas12'), Madrid 28041, Spain; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid 28670, Spain.
Publikováno v:
Journal of sport and health science [J Sport Health Sci] 2024 May; Vol. 13 (3), pp. 398-408. Date of Electronic Publication: 2023 Nov 27.
Autor:
Torrens SL; School of Exercise and Nutrition Sciences, Faculty of Health, Queensland University of Technology, Victoria Park Road, Kelvin Grove, QLD 4058, Australia., Parr EB; Mary Mackillop Institute for Health Research, Australian Catholic University, Level 5, 215 Spring Street, Melbourne, VIC 3000, Australia., McNulty C; School of Exercise and Nutrition Sciences, Faculty of Health, Queensland University of Technology, Victoria Park Road, Kelvin Grove, QLD 4058, Australia., Ross L; School of Exercise and Nutrition Sciences, Faculty of Health, Queensland University of Technology, Victoria Park Road, Kelvin Grove, QLD 4058, Australia., MacLaughlin H; School of Exercise and Nutrition Sciences, Faculty of Health, Queensland University of Technology, Victoria Park Road, Kelvin Grove, QLD 4058, Australia., Robergs RA; School of Exercise and Nutrition Sciences, Faculty of Health, Queensland University of Technology, Victoria Park Road, Kelvin Grove, QLD 4058, Australia.
Publikováno v:
Nutrients [Nutrients] 2024 May 09; Vol. 16 (10). Date of Electronic Publication: 2024 May 09.
Autor:
Valenzuela PL; Physical Activity and Health Research Group ('PaHerg'), Research Institute of Hospital '12 de Octubre' ('imas12'), Madrid, Spain; Department of Systems Biology, University of Alcalá, Madrid, Spain. Electronic address: pedrol.valenzuela@uah.es., Santalla A; Department of Sport and Computer Science, Section of Physical Education and Sports, Faculty of Sport, Universidad Pablo de Olavide, Sevilla, Spain; EVOPRED Research Group, Universidad Europea de Canarias, Tenerife, Spain., Alejo LB; Physical Activity and Health Research Group ('PaHerg'), Research Institute of Hospital '12 de Octubre' ('imas12'), Madrid, Spain; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain., Bustos A; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain., Ozcoidi LM; Hospital Reina Sofía de Tudela, Servicio Navarro de Salud, Navarra, Spain., Castellote-Bellés L; Department of Clinical Biochemistry, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Ferrer-Costa R; Department of Clinical Biochemistry, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Villarreal-Salazar M; Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, Spain., Morán M; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, Spain; Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital 12 de Octubre (imas12), Madrid, Spain., Barranco-Gil D; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain., Pinós T; Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, Spain. Electronic address: tomas.pinos@vhir.org., Lucia A; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.
Publikováno v:
Clinical nutrition (Edinburgh, Scotland) [Clin Nutr] 2024 Mar; Vol. 43 (3), pp. 692-700. Date of Electronic Publication: 2024 Jan 26.
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.