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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Published inNeuromuscular disorders : NMD Vol. 29; no. 5; pp. 401 - 410
Main Authors 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 Journal Article
LanguageEnglish
Published England Elsevier B.V 01.05.2019
Subjects
Medicin och hälsovetenskap
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Summary:•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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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content type line 23
ISSN:0960-8966
1873-2364
1873-2364
DOI:10.1016/j.nmd.2019.02.010