Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.
Mendpara V et al.
Cureus, 2023
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Zhang S et al.
Human Molecular Genetics, 2023
A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members.
Alsallum MS et al.
Heliyon, 2021
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.
Bevilacqua JA et al.
European Journal of Translational Myology, 2017
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J et al.
Human Molecular Genetics, 2012
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
Lashley D et al.
Neurology, 2010
Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
Hamuro J et al.
The Journal of Biological Chemistry, 2008
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS et al.
Expert Reviews in Molecular Medicine, 2007
Clinical features of the DOK7 neuromuscular junction synaptopathy.
Palace J et al.
Brain : a Journal of Neurology, 2007
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