Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Juliane S. Müller, A. Herczegfalvi, Juan J. Vílchez et al. · Brain · 2007 · 160 citations

Life Sciences, Genetics, Molecular Genetics +15

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Katrin Hoffmann, Juliane Müller, Sigmar Stricker et al. · The American Journal of Human Genetics · 2006 · 154 citations · Full text

Life Sciences, Genetics, Neuroscience +9

Rapsyn mutations in hereditary myasthenia

Georgina Burke, Judith Cossins, Susan Maxwell et al. · Neurology · 2003 · 144 citations

Life Sciences, Genetics, Molecular Genetics +15

Clinical features of the DOK7 neuromuscular junction synaptopathy

Jacqueline Palace, Daniel Lashley, John Newsom–Davis et al. · Brain · 2007 · 128 citations · Full text

Medicine, Genetics, Neurology +16

Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'

Clarke R. Slater · Brain · 2006 · 116 citations

Medicine, Neurology, Neuroscience +17