Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT et al.
Hgg Advances, 2024
Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation.
Jiang L et al.
Pharmacogenomics and Personalized Medicine, 2023
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Rodríguez Cruz PM et al.
Human Mutation, 2020
Pregnancy-associated respiratory failure in muscle specific kinase congenital myasthenic syndrome.
Wadwekar V et al.
Muscle & Nerve, 2019
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen D et al.
American Journal of Medical Genetics. Part A, 2018
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG
Handbook of Clinical Neurology, 2018
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.
Luan X et al.
Clinical Neurology and Neurosurgery, 2016
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmüller C et al.
Neuromuscular Disorders : Nmd, 2014
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.
Maggi L et al.
Journal of Neurology, 2013
Congenital myasthenic syndromes: an update.
Hantaï D et al.
Current Opinion in Neurology, 2013
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
Ben Ammar A et al.
Plos One, 2013
Congenital myasthenic syndromes.
Eymard B et al.
Handbook of Clinical Neurology, 2013
186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.
Chaouch A et al.
Neuromuscular Disorders : Nmd, 2012
Congenital myasthenic syndromes in 2012.
Engel AG
Current Neurology and Neuroscience Reports, 2012
Receptor tyrosine kinases: from biology to pathology.
Choura M et al.
Journal of Receptor and Signal Transduction Research, 2011
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Maselli RA et al.
Human Molecular Genetics, 2010
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
Chevessier F et al.
Human Molecular Genetics, 2008
Dok-7/MuSK signaling and a congenital myasthenic syndrome.
Yamanashi Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2008
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.
Chevessier F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
Beeson D et al.
Neuromuscular Disorders : Nmd, 2005
Current understanding of congenital myasthenic syndromes.
Engel AG et al.
Current Opinion in Pharmacology, 2005
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
Chevessier F et al.
Journal De La Societe De Biologie, 2005
MUSK, a new target for mutations causing congenital myasthenic syndrome.
Chevessier F et al.
Human Molecular Genetics, 2004