Associated Papers
Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.
Rossini E et al.
Muscle & Nerve, 2026
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.
Guan J et al.
Brain & Development, 2025
CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights.
Karimi N et al.
Neuromuscular Disorders : Nmd, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature.
Batheja A et al.
Ophthalmic Genetics, 2024
Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.
Almatrafi AM et al.
Biomedicines, 2023
Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.
Huang K et al.
Current Neuropharmacology, 2021
FANCA Gene Mutations in North African Fanconi Anemia Patients.
Ben Haj Ali A et al.
Frontiers in Genetics, 2021
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A Novel c.973G>T Mutation in the ε-subunit of the Acetylcholine Receptor Causing Congenital Myasthenic Syndrome in an Iranian Family.
Karimzadeh P et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Congenital myasthenic syndromes.
Finsterer J
Orphanet Journal of Rare Diseases, 2019
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.
Tan JZ et al.
Chinese Medical Journal, 2016
Clinical and genetic basis of congenital myasthenic syndromes.
Souza PV et al.
Arquivos De Neuro-psiquiatria, 2016
Consanguinity and genetic diseases in North Africa and immigrants to Europe.
Anwar WA et al.
European Journal of Public Health, 2014
[Congenital myasthenic syndromes; French experience].
Eymard B et al.
Bulletin De L'academie Nationale De Medecine, 2014
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Eymard B et al.
Revue Neurologique, 2013
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.
Abicht A et al.
Human Mutation, 2012
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
Congenital myasthenic syndrome: a brief review.
Lorenzoni PJ et al.
Pediatric Neurology, 2012
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
Maselli RA et al.
Clinical Genetics, 2011
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
Salih MA et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2011
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.
Mihaylova V et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
Faber CG et al.
Journal of Neurology, 2009
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.
Richard P et al.
Neurology, 2008
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS et al.
Expert Reviews in Molecular Medicine, 2007
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
Beeson D et al.
Neuromuscular Disorders : Nmd, 2005
[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests].
Chauplannaz G et al.
Revue Neurologique, 1994
The phenotypic expression of different mutations in transmissible human spongiform encephalopathy.
Brown P
Revue Neurologique, 1992
Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.
Kediha MI et al.
Revue Neurologique, 0