237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018

237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018

•Agreement on ways to promote GNE myopathy animal model development.•Recommendations for further biomarker and biochemical pathways studies.•Initial standards of care (SOC) document for GNE myopathy patients.•Recommended items for data collection in patient registries.•Recommended format for reporti...

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Veröffentlicht in:NEUROMUSCULAR DISORDERS 2019-05, Vol.29 (5), p.401-410
Hauptverfasser: Pogoryelova, Oksana, Urtizberea, J. Andoni, Argov, Zohar, Nishino, Ichizo, Lochmüller, Hanns, Roos, Andreas, Willems, Anke, Béhin, Antony, Udd, Bjarne, Landfeldt, Erik, Mansbach, Hank, Tournev, Ivailo, Hogrel, Jean-Yves, Welsh, Lale, Mori-Yoshimura, Madoka, Huizing, Marjan, Davidovich, Maya, Hek, Mireille, Patel, Mona, Lek, Monkol, Carrillo, Nuria, Horstkorte, Rüdiger, Mitrani-Rosenbaum, Stella, Mozaffar, Tahseen, Evangelista, Teresinha
Format: Artikel
Sprache:eng
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Zusammenfassung:•Agreement on ways to promote GNE myopathy animal model development.•Recommendations for further biomarker and biochemical pathways studies.•Initial standards of care (SOC) document for GNE myopathy patients.•Recommended items for data collection in patient registries.•Recommended format for reporting new variants in the GNE gene.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2019.02.010