Juliane S. Müller

Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

David Beeson, Osamu Higuchi, Jackie Palace et al. · Science · 2006 · 269 citations

Medicine, Genetics, Neurology +17

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Violeta Mihaylova, Juliane S. Müller, Juan J. Vílchez et al. · Brain · 2008 · 160 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Angela Abicht, Marina Dusl, Constanze Gallenmüller et al. · Human Mutation · 2012 · 117 citations

Medicine, Genetics, Molecular Genetics +16

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

Juliane S. Müller, Gina Mildner, Wolfgang Müller‐Felber et al. · Neurology · 2003 · 88 citations

Life Sciences, Genetics, Molecular Genetics +17