Rebecca Schüle

Overview

Best Publications

• Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

  Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

  700
  Citations

• Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.

  Rebecca Schüle;Sarah Wiethoff;Peter Martus;Kathrin N. Karle;Kathrin N. Karle

  349
  Citations

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

  Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  337
  Citations

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

  Matthis Synofzik;Michael A. Gonzalez;Charles Marques Lourenco;Marie Coutelier;Marie Coutelier

  225
  Citations

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

  Alexander J Abrams;Robert B Hufnagel;Adriana Rebelo;Claudia Zanna

  222
  Citations

• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

  Christelle Tesson;Magdalena Nawara;Magdalena Nawara;Magdalena Nawara;Mustafa A.M. Salih;Rodrigue Rossignol

  219
  Citations

• REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

  Christian Beetz;Rebecca Schüle;Tine Deconinck;Khanh Nhat Tran-Viet

  211
  Citations

• Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

  Amir Boukhris;Amir Boukhris;Rebecca Schule;José L. Loureiro;Charles Marques Lourenço

  204
  Citations

• Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

  Elodie Martin;Rebecca Schüle;Katrien Smets;Agnès Rastetter

  199
  Citations

• Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

  Gladys Montenegro;Adriana P. Rebelo;James Connell;Rachel Allison

  192
  Citations

• Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

  Matthis Synofzik;Anne S Soehn;Janina Gburek-Augustat;Julia Schicks

  191
  Citations

• Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

  Emily C. Oates;Emily C. Oates;Alexander M. Rossor;Majid Hafezparast;Michael Gonzalez

  184
  Citations

• Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

  Matthis Synofzik;Matthis Synofzik;Rebecca Schüle;Rebecca Schüle

  177
  Citations

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

  Bettina Ebbing;Klaudiusz Mann;Agata Starosta;Johann Jaud

  171
  Citations

• Genetics of hereditary spastic paraplegias.

  Rebecca Schüle;Ludger Schöls

  170
  Citations

• Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

  Alejandro Estrada-Cuzcano;Shaun Martin;Teodora Chamova;Matthis Synofzik

  162
  Citations

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

  Ulrike M. Krämer;Toni Cunillera;Estela Càmara;Josep Marco-Pallarés

  160
  Citations

• Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

  Ute Hehr;Peter Bauer;Beate Winner;Rebecca Schule

  159
  Citations

• High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

  C. Beetz;A.O.H. Nygren;J. Schickel;M. Auer-Grumbach

  158
  Citations

• Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

  Rebecca Schüle;Teepu Siddique;Han-Xiang Deng;Yi Yang

  144
  Citations