Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Congenital myasthenic syndromes

(2013) Daniel Hantaï et al.   CURRENT OPINION IN NEUROLOGY

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

(2013) Bisei Ohkawara et al.   HUMAN MOLECULAR GENETICS

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

(2013) Stéphanie Bauché et al.   NEUROMUSCULAR DISORDERS

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

(2012) Angela Abicht et al.   HUMAN MUTATION

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

(2012) Johann Böhm et al.   HUMAN MUTATION

Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses

(2012) Norihiro Yumoto et al.   NATURE

Distinct Roles of Muscle and Motoneuron LRP4 in Neuromuscular Junction Formation

(2012) Haitao Wu et al.   NEURON

Agrin and Synaptic Laminin Are Required to Maintain Adult Neuromuscular Junctions

(2012) Melanie A. Samuel et al.   PLoS One

Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction

(2011) Neha Singhal et al.   Developmental Neurobiology

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin

(2011) Ricardo A. Maselli et al.   HUMAN GENETICS

A valid mouse model of AGRIN-associated congenital myasthenic syndrome

(2011) L. P. Bogdanik et al.   HUMAN MOLECULAR GENETICS

Distal myopathies – New genetic entities expand diagnostic challenge

(2011) Bjarne Udd   NEUROMUSCULAR DISORDERS

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

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

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

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

(2008) Natalie Kim et al.   CELL