The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome

186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

(2012) Amina Chaouch et al.   NEUROMUSCULAR DISORDERS

The transcription factor Sp1 plays a crucial role in dok-7 gene expression

(2011) Johko Hamuro et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Congenital Myasthenic Syndromes in 2012

(2011) Andrew G. Engel   Current Neurology and Neuroscience Reports

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome

(2010) Chris G. Jephson et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

(2010) V. Mihaylova et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The Cytoplasmic Adaptor Protein Dok7 Activates the Receptor Tyrosine Kinase MuSK via Dimerization

(2010) Elisa Bergamin et al.   MOLECULAR CELL

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

(2010) D. Lashley et al.   NEUROLOGY

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

(2009) J Vogt et al.   JOURNAL OF MEDICAL GENETICS

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

(2009) A. Ben Ammar et al.   JOURNAL OF NEUROLOGY

Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

The congenital myasthenic syndromes

(2008) Jackie Palace et al.   JOURNAL OF NEUROIMMUNOLOGY

Variable phenotypes associated with mutations inDOK7

(2007) Jennifer A. Anderson et al.   MUSCLE & NERVE