Neuromuscular Disorders · 2009 · 57 citations · 16 references
MedicineMolecular MedicinePharmacotherapyPediatric GeneticsCongenital DisordersCongenital Myasthenic SyndromesGenetic DisordersMyasthenia GravisDok-7 DeficiencyDok7-related Congenital Myasthenic SyndromeEphedrine TherapyMyasthenia Gravis PharmacotherapyPresynaptic Congenital Myasthenic Syndromes
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Clinical trial in duchenne dystrophy. I. The design of the protocol
Michael H. Brooke, Robert C. Griggs, Jerry R. Mendell et al. · Muscle & Nerve · 1981 · 563 citations
The Muscle Protein Dok-7 Is Essential for Neuromuscular Synaptogenesis
Kumiko Okada, Akane Inoue, Momoko Okada et al. · Science · 2006 · 430 citations
Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy
David Beeson, Osamu Higuchi, Jackie Palace et al. · Science · 2006 · 269 citations
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
Juliane S. Müller, A. Herczegfalvi, Juan J. Vílchez et al. · Brain · 2007 · 160 citations
Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges
Maria Kinali, David Beeson, Matthew Pitt et al. · Journal of Neuroimmunology · 2008 · 134 citations
Medicine, Child Health, Pediatrics +11