Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

(2014) Alya R. Raphael et al.   BRAIN RESEARCH

Congenital myasthenic syndromes and the neuromuscular junction

(2014) Pedro M. Rodríguez Cruz et al.   CURRENT OPINION IN NEUROLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies

(2014) D. Selcen et al.   NEUROLOGY

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

(2013) Katarzyna Zoltowska et al.   HUMAN MOLECULAR GENETICS

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

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

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

(2011) Amina Chaouch et al.   JOURNAL OF NEUROLOGY

Current status of the congenital myasthenic syndromes

(2011) Andrew G. Engel   NEUROMUSCULAR DISORDERS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

(2008) Alison G. Compton et al.   AMERICAN JOURNAL OF HUMAN GENETICS