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pro vyhledávání: '"Barwick, Katy ES"'
Autor:
Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy ES, Burke, Derek, Demailly, Diane, Kumar, Kishore R, Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik?Jan, Tijssen, Marina A, Verschuuren, Corien, Egmond, Martje E, Flowers, Joanna M, McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I, Gonzalez-Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M, Peall, Kathryn J, Bötzel, Kai, Koch, Jan C, Kmiec, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J, Sue, Carolyn M, Cif, Laura, Mencacci, Niccolò E, Anderson, Glenn, Kurian, Manju A, Winkelmann, Juliane
Objectives\ud The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognised. We aimed to investigate this paucity of diagnoses.\ud \ud Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::87655b99e9322472009c2b4433811127
https://orca.cardiff.ac.uk/id/eprint/134627/4/ana.25879.pdf
https://orca.cardiff.ac.uk/id/eprint/134627/4/ana.25879.pdf
Autor:
Sullivan JM; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Motley WW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Johnson JO; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland, USA., Aisenberg WH; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Marshall KL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Barwick KE; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, United Kingdom., Kong L; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Huh JS; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Saavedra-Rivera PC; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., McEntagart MM; Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, United Kingdom., Marion MH; Department of Neurology and., Hicklin LA; Department of Ears, Nose and Throat (ENT), St. George's Hospital, London, United Kingdom., Modarres H; Department of Neurology and., Baple EL; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, United Kingdom., Farah MH; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Zuberi AR; Genetic Resource Science, The Jackson Laboratory, Bar Harbor, Maine, USA., Lutz CM; Genetic Resource Science, The Jackson Laboratory, Bar Harbor, Maine, USA., Gaudet R; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts, USA., Traynor BJ; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland, USA.; Brain Sciences Institute, Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland, USA., Crosby AH; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, United Kingdom., Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2020 Mar 02; Vol. 130 (3), pp. 1506-1512.