Rebecca Schüle
University of Freiburg(DE)Heidelberg University(DE)Maastricht University Medical Centre(NL)German Center for Neurodegenerative Diseases(DE)University Hospital Heidelberg(DE)Institute for Neurodegenerative Disorders(US)Hertie Institute for Clinical Brain Research(DE)University of Tübingen(DE)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Neurogenetic and Muscular Disorders Research, Mitochondrial Function and Pathology
Most-Cited Works
- → Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients(2016)306 cited
- → The Spastic Paraplegia Rating Scale (SPRS)(2006)301 cited
- → De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy(2015)268 cited
- → Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia(2022)226 cited
- → PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum(2013)222 cited
- → Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder(2015)204 cited