Rebecca Schüle

发表

Neurophysiological markers of novelty processing are modulated by COMT and DRD4 genotypes

Josep Marco-Pallarés, Antoni Rodríguez-Fornells, Ulrike M. Krämer, 2010, NeuroImage.

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Zacharias Kohl, Jan Kassubek, Stephan Züchner, 2016, Annals of neurology.

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

Xiaowu Gai, Marni J. Falk, Stephan Zuchner, 2015, Human mutation.

The Impact of Catechol-O-Methyltransferase and Dopamine D4 Receptor Genotypes on Neurophysiological Markers of Performance Monitoring

Josep Marco-Pallarés, Thomas F Münte, David Cucurell, 2007, The Journal of Neuroscience.

Genetic Variability in the Dopamine System (Dopamine Receptor D4, Catechol-O-Methyltransferase) Modulates Neurophysiological Responses to Gains and Losses

Josep Marco-Pallarés, Ulrike M. Krämer, David Cucurell, 2009, Biological Psychiatry.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Mary M. Reilly, Francesco Muntoni, Henry Houlden, 2015 .

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

Rebecca Schüle, Ludger Schöls, R. Schüle, 2008, Human molecular genetics.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Alexandra Durr, Chokri Mhiri, Stephan Züchner, 2013, American journal of human genetics.