Susanne T. de Bot

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg et al. · The American Journal of Human Genetics · 2012 · 178 citations · Full text

Recessive Form, Signal Transduction, Intracellular Phospholipase A1 +8

Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

Koen L.I. van Gassen, Charlotte D.C.C. van der Heijden, Susanne T. de Bot et al. · Brain · 2012 · 139 citations · Full text

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot et al. · European Journal of Human Genetics · 2016 · 114 citations · Full text

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings, Meyke Schouten, Judith van Gaalen et al. · European Journal of Human Genetics · 2019 · 91 citations · Full text

StartReact Restores Reaction Time in HSP: Evidence for Subcortical Release of a Motor Program

Jorik Nonnekes, Lars B. Oude Nijhuis, Mark de Niet et al. · Journal of Neuroscience · 2013 · 85 citations · Full text