Friedrich Ebinger

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 417 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 406 citations · Full text

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

Hendrik Rosewich, Hölger Thiele, Andreas Ohlenbusch et al. · The Lancet Neurology · 2012 · 263 citations · Full text

Heterozygous De-novo Mutations, Mendelian Disorder, Genetic Disorder +7

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek, Michael J. B. Krieger, Claudia Stendel et al. · Nature Genetics · 2005 · 248 citations

Mendelian Disorder, Ophthalmology, Genetic Disorder +5

Rituximab Treatment and Long-term Outcome of Patients With Autoimmune Encephalitis

Franziska Thaler, Luise Zimmermann, Stefan Kammermeier et al. · Neurology Neuroimmunology & Neuroinflammation · 2021 · 158 citations · Full text