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Autor:
Swayne, A., Tjoa, L., Broadley, S., Dionisio, S., Gillis, D., Jacobson, L., Woodhall, M. R., McNabb, A., Schweitzer, D., Tsang, B., Vincent, A., Irani, S. R., Wong, R., Waters, P., Blum, S.
Publikováno v:
European Journal of Neurology
Background and purpose Antibodies to glycine receptors (GlyR‐Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM) but were subsequently identified in other clinical presentations. Our aim was to assess the clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::672b2a9cfe499edd8779602e6031d1ed
https://ora.ox.ac.uk/objects/uuid:8849e452-53cf-4a3d-825c-70b52f35b6a5
https://ora.ox.ac.uk/objects/uuid:8849e452-53cf-4a3d-825c-70b52f35b6a5
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Periodical
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Autor:
Musto E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.; Epilepsy and Movement Disorder Neurology, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy., Liao VWY; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark., Lederer D; Center for Human Genetics, Institut de Pathologie et de Génétique, Gosselies, Belgium., Kothur K; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia., Fisk K; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Vrielynck P; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium., Delaby D; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Sparber P; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Ardern-Holmes S; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Westmead, New South Wales, Australia., Troedson C; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Westmead, New South Wales, Australia., Battaglia DI; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy., Goel H; Hunter Genetics, Newcastle, New South Wales, Australia., Feyma T; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA., Tjoa L; Townsville University Hospital, Douglas, Queensland, Australia., Boxill M; Department of Pediatrics, Viborg Regional Hospital, Viborg, Denmark., Demina N; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia., Shchagina O; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia., Dadali E; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia., Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA., Cantalupo G; Child Neuropsychiatry Section, Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona, Verona, Italy.; UOC Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata (full member of the ERN EpiCare), Verona, Italy.; Center for Research on Epilepsies in Pediatric age (CREP), Verona, Italy., Contaldo I; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy., Polster T; Department of Epileptology (Krankenhaus Mara), Bielefeld University Medical School, Bielefeld, Germany., Isidor B; CHU Nantes, Service de Génétique Médicale, Nantes, France., Bova SM; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy., Fazeli W; Department of Neuropediatrics, Children's Hospital, University of Bonn, Bonn, Germany., Wouters L; Department of Pediatrics, Ziekenhuis Oost-Limburg, Genk, Belgium., Miranda MJ; Department of Pediatrics, Pediatric Neurology, Herlev University Hospital, Copenhagen University, Herlev, Denmark., Darra F; Child Neuropsychiatry Section, Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona, Verona, Italy.; UOC Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata (full member of the ERN EpiCare), Verona, Italy.; Center for Research on Epilepsies in Pediatric age (CREP), Verona, Italy., Pede E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy., Le Duc D; Department of Human Genetics, University of Leipzig Faculty of Medicine, Leipzig, Germany., Jamra RA; Department of Human Genetics, University of Leipzig Faculty of Medicine, Leipzig, Germany., Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France.; l'Institut du Thorax, INSERM, CNRS, Université de Nantes, Nantes, France., Proietti J; Child Neuropsychiatry Section, Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona, Verona, Italy.; Irish Centre for Fetal and Neonatal Translational Research, Child Neuropsychiatry, Cork, Ireland., McSweeney N; Department of Paediatrics, Cork University Hospital, Cork, Ireland., Brokamp E; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Andrews PI; Department of Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia., Gouray Garcia M; Centre Hospitalier de Cholet, Cholet, France., Chebib M; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Ahring PK; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
Publikováno v:
Annals of neurology [Ann Neurol] 2023 Aug 22. Date of Electronic Publication: 2023 Aug 22.
Autor:
Swayne A; Princess Alexandra Hospital Brisbane Australia, Wooloongabba, QLD, Australia.; School of Medicine, University of Queensland, Herston, QLD, Australia.; Mater Centre for Neuroscience, South Brisbane, QLD, Australia., Tjoa L; Mater Centre for Neuroscience, South Brisbane, QLD, Australia., Broadley S; Gold Coast University Hospital, Griffith University Medical School, Griffith University, QLD, Australia., Dionisio S; Princess Alexandra Hospital Brisbane Australia, Wooloongabba, QLD, Australia.; Mater Centre for Neuroscience, South Brisbane, QLD, Australia., Gillis D; Pathology Queensland, Brisbane, QLD, Australia.; Sunshine Coast University Hospital, Birtinya, QLD, Australia., Jacobson L; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Woodhall MR; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., McNabb A; Cairns Base Hospital, Cairns, QLD, Australia., Schweitzer D; Mater Centre for Neuroscience, South Brisbane, QLD, Australia., Tsang B; Sunshine Coast University Hospital, Birtinya, QLD, Australia., Vincent A; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Irani SR; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Wong R; Princess Alexandra Hospital Brisbane Australia, Wooloongabba, QLD, Australia.; Pathology Queensland, Brisbane, QLD, Australia., Waters P; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Blum S; Princess Alexandra Hospital Brisbane Australia, Wooloongabba, QLD, Australia.; School of Medicine, University of Queensland, Herston, QLD, Australia.; Mater Centre for Neuroscience, South Brisbane, QLD, Australia.
Publikováno v:
European journal of neurology [Eur J Neurol] 2018 Oct; Vol. 25 (10), pp. 1290-1298. Date of Electronic Publication: 2018 Jul 21.
Publikováno v:
Archives of internal medicine [Arch Intern Med] 1974 Sep; Vol. 134 (3), pp. 457-60.