Associated Papers
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT et al.
Hgg Advances, 2024
From phosphorylation to phenotype - Recent key findings on kinase regulation, downstream signaling and disease surrounding the receptor tyrosine kinase MuSK.
Prömer J et al.
Cellular Signalling, 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
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
Milhem RM et al.
Molecular Medicine (cambridge, Mass.), 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
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
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
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB et al.
European Journal of Human Genetics : Ejhg, 2015
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.
Milhem RM et al.
The International Journal of Biochemistry & Cell Biology, 2015
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.
Eymard B et al.
Handbook of Clinical Neurology, 2013
Current status of the congenital myasthenic syndromes.
Engel AG
Neuromuscular Disorders : Nmd, 2012
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