250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands

被引:6
作者
Neuhaus, Sarah B. [1 ]
Wallgren-Pettersson, Carina [2 ,3 ]
Bonnemann, Carsten G. [4 ]
Schara, Ulrike [5 ]
Servais, Laurent [6 ,7 ,8 ]
机构
[1] NINDS, Neuromuscular & Neurogenet Disoniets Childhood Se, Neurogenet Branch, NIH, Bethesda, MD 20892 USA
[2] Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland
[3] Univ Helsinki, Dept Med & Clin Genet, Helsinki, Finland
[4] NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, Neurogenet Branch, NIH, Bethesda, MD 20892 USA
[5] Univ Duisburg Essen, Univ Hosp Essen, Ctr Neuromuscular Disorders Children & Adolecents, Dept Pediat Neurol, Duisburg, Germany
[6] Univ Hosp Liege, Ctr References Malad Neuromusculaires, Dept Pediat, Div Child Neurol, Liege, Belgium
[7] Univ Liege, Liege, Belgium
[8] Univ Oxford, MDUK Neuromuscular Ctr, Dept Paediat, Oxford, England
关键词
CONGENITAL MYOPATHIES; NEUROMUSCULAR DISEASES; MUSCLE; DYSPHAGIA; DISORDERS; MUTATIONS; FAMILY; PROMIS; SCALE; GENE;
D O I
10.1016/j.nmd.2020.08.356
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:866 / 875
页数:10
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