Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

What Have We Learned from the Congenital Myasthenic Syndromes

(2009) Andrew G. Engel et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK-RELATED CONGENITAL MYASTHENIC SYNDROMES

(2009) V. Mihaylova et al.   NEUROLOGY

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

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

Further Observations in Congenital Myasthenic Syndromes

(2008) Andrew G. Engel et al.   Annals of the New York Academy of Sciences

Congenital Myasthenic Syndromes and the Formation of the Neuromuscular Junction

(2008) David Beeson et al.   Annals of the New York Academy of Sciences

Lrp4 Is a Receptor for Agrin and Forms a Complex with MuSK

(2008) Natalie Kim et al.   CELL

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions

(2008) F. Chevessier et al.   HUMAN MOLECULAR GENETICS

LRP4 Serves as a Coreceptor of Agrin

(2008) Bin Zhang et al.   NEURON

A Mammalian Homolog of Drosophila Tumorous Imaginal Discs, Tid1, Mediates Agrin Signaling at the Neuromuscular Junction

(2008) Jenny Linnoila et al.   NEURON

Variable phenotypes associated with mutations inDOK7

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