Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

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

(2010) Ricardo A. Maselli et al.   HUMAN MOLECULAR GENETICS

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

(2010) Katharine Forrest et al.   NEUROMUSCULAR DISORDERS

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

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

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

(2009) R A Maselli et al.   JOURNAL OF MEDICAL GENETICS

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

Nonsense-mediated mRNA decay

(2008) Jikai Wen et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Receptor-mediated tobacco toxicity: acceleration of sequential expression of α5 and α7 nicotinic receptor subunits in oral keratinocytes exposed to cigarette smoke

(2008) Juan Arredondo et al.   FASEB JOURNAL

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

(2008) P. Richard et al.   NEUROLOGY

Variable phenotypes associated with mutations inDOK7

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