Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
Tiwari AK et al.
Clinical Genetics, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
Radhakrishnan P et al.
American Journal of Medical Genetics. Part A, 2020
[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 spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J et al.
Human Molecular Genetics, 2012
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Bruno DL et al.
Human Mutation, 2011
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Liewluck T et al.
Muscle & Nerve, 2011
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
Variable phenotypes associated with mutations in DOK7.
Anderson JA et al.
Muscle & Nerve, 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
Clinical features of the DOK7 neuromuscular junction synaptopathy.
Palace J 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