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

被引：7

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

来源：

NEUROMUSCULAR DISORDERS | 2020年 / 30卷 / 10期

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

页码：866 / 875

页数：10

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