Associated Papers
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 comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Zhang S et al.
Clinical and Translational Medicine, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.
Khadilkar S et al.
Indian Pediatrics, 2015
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J et al.
Human Molecular Genetics, 2012
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A et al.
Journal of Neurology, 2010
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
Schara U et al.
Neuromuscular Disorders : Nmd, 2009
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
Selcen D et al.
Annals of Neurology, 2008
Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
Hamuro J et al.
The Journal of Biological Chemistry, 2008
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS et al.
Brain : a Journal of Neurology, 2007
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Beeson D et al.
Science (new York, N.y.), 2006
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