Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up

Extracellular cap domain is an essential component of the TRPV1 gating mechanism

(2021) Kirill D. Nadezhdin et al.   Nature Communications

Congenital myasthenic syndromes

(2019) Josef Finsterer   Orphanet Journal of Rare Diseases

The congenital myasthenic syndromes

(2019) An E. Vanhaesebrouck et al.   CURRENT OPINION IN NEUROLOGY

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

(2018) Pedro Rodríguez Cruz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

CHRNE compound heterozygous mutations in congenital myasthenic syndrome

(2018) Kunfang Yang et al.   MEDICINE

Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up

(2018) Hacer Durmus et al.   NEUROMUSCULAR DISORDERS

Clinical and genetic characterization of an Italian family with slow-channel syndrome

(2018) Corrado Angelini et al.   NEUROLOGICAL SCIENCES

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes

(2017) Angela Abicht et al.   NEUROPEDIATRICS

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa

(2017) Jamil Amjad Hashmi et al.   CONGENITAL ANOMALIES

NMD Classifier: A reliable and systematic classification tool for nonsense-mediated decay events

(2017) Min-Kung Hsu et al.   PLoS One

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

(2016) Xin-Ming Shen et al.   HUMAN MUTATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

(2015) Andrew G Engel et al.   LANCET NEUROLOGY

A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers

(2015) Caitlin J. Rinz et al.   NEUROMUSCULAR DISORDERS

Congenital myasthenic syndromes and the neuromuscular junction

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

Clinical features of congenital myasthenic syndrome due to mutations inDPAGT1

(2013) Sarah Finlayson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

(2013) Richard Webster et al.   NEUROMUSCULAR DISORDERS

Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations

(2011) Menachem Sadeh et al.   MUSCLE & NERVE

Congenital Myasthenic Syndrome Due to Homozygous CHRNE Mutations: Report of Patients in Arabia

(2010) Mustafa A Salih et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

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

(2008) P. Richard et al.   NEUROLOGY