C. Rauscher

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 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Kathleen Baysac, Guangping Sun, Hiroto Nakano et al. · Journal of Allergy and Clinical Immunology · 2023 · 54 citations · Full text

Life Sciences, Genetics, Immunology +12

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

Martina Herzer, Johannes Koch, Holger Prokisch et al. · Neuropediatrics · 2010 · 38 citations

Medicine, Genetics, Molecular Genetics +7

MRI and Proton Spectroscopy in Lowe Syndrome

Juliane Schneider, Eugen Boltshauser, T. Neuhaus et al. · Neuropediatrics · 2001 · 34 citations

Medicine, Ophthalmology, Radiology +11

A Case of Ohtahara Syndrome with Olivary–dentate Dysplasia and Agenesis of Mamillary Bodies

Eugen Trinka, C. Rauscher, Markus Nagler et al. · Epilepsia · 2001 · 30 citations

Medicine, Neurology, Pediatrics +17