Rebecca Schüle

The Spastic Paraplegia Rating Scale (SPRS)

Rebecca Schüle, T. Holland-Letz, Sven Klimpe et al. · Neurology · 2006 · 298 citations

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Rebecca Schüle, Sarah Wiethoff, Peter Martus et al. · Annals of Neurology · 2016 · 298 citations

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço et al. · Brain · 2013 · 221 citations · Full text

Corticobasal Degeneration, Genetics, Pathology +18

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 200 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7