Congenital Myasthenic Syndromes in 2012

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

(2011) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Myasthenic syndrome caused by plectinopathy

(2011) D. Selcen et al.   NEUROLOGY

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia

(2011) Teerin Liewluck et al.   NEUROMUSCULAR DISORDERS

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

(2011) Stephanie A. Robb et al.   NEUROMUSCULAR DISORDERS

Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L

(2010) P. T. Hallock et al.   GENES & DEVELOPMENT

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

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

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

(2010) D. Lashley et al.   NEUROLOGY

PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

(2010) K. G. Claeys et al.   NEUROLOGY

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

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

Affordable 'Exomes' Fill Gaps in a Catalog of Rare Diseases

(2010) J. Kaiser   SCIENCE

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

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

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

(2009) Ulrike Schara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

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

ENDPLATE DESTRUCTION DUE TO MATERNAL ANTIBODIES IN ARTHROGRYPOSIS MULTIPLEX CONGENITA

(2009) J. Reimann et al.   NEUROLOGY

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

(2009) M. Milone et al.   NEUROLOGY

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

(2009) V. Mihaylova et al.   NEUROLOGY

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

(2008) Anne Michalk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

(2008) Julie Vogt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

(2008) Violeta Mihaylova et al.   BRAIN

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

(2008) Natalie Kim et al.   CELL

Congenital myasthenia–related AChR δ subunit mutation interferes with intersubunit communication essential for channel gating

(2008) Xin-Ming Shen et al.   JOURNAL OF CLINICAL INVESTIGATION

FETAL ACETYLCHOLINE RECEPTOR INACTIVATION SYNDROME AND MATERNAL MYASTHENIA GRAVIS

(2008) M. Oskoui et al.   NEUROLOGY

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