Publications by authors named "Barbara Leube"

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Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E Sanderson, Kornelia Tripolszki, Barbara Leube

Mov Disord· November 2025

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Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Mackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, Alexa Derksen, Quentin Sabbagh, Barbara Leube

HGG Adv· October 2025

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Variable Age at Onset in AOPEP-Associated Dystonia.
Martina Minnerop, Barbara Leube, Alisha Reinhardt, Tristan Kölsche, John-Ih Lee

Mov Disord· December 2023

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Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Julia Schmidt, Jonas Goergens, Tatiana Pochechueva, Annika Kotter, Niko Schwenzer, Barbara Leube

Hum Genet· December 2021

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Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15.
Artur Brandt, Katharina Löhers, Manfred Beier, Barbara Leube, Carmen de Torres

PLoS One· July 2017

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Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease.
Suna Lahut, Suzana Gispert, Özgür Ömür, Candan Depboylu, Kay Seidel, Barbara Leube

Dis Model Mech· May 2017

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Mutations in CIZ1 are not a major cause for dystonia in Germany.
Claudia Dufke, Ann-Kathrin Hauser, Marc Sturm, Susanne Fluhr, Tobias Wächter, Barbara Leube

Mov Disord· April 2015

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Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
Sebastian Kummer, Andreas Venghaus, Andrea Schlune, Barbara Leube, Thomas Eggermann

Pediatr Nephrol· January 2014

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Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients.
Maike Busch, Barbara Leube, Anne Thiel, Ina Schanze, Manfred Beier

Am J Med Genet A· May 2013

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DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
Pia Winter, Christoph Kamm, Saskia Biskup, Angelika Köhler, Barbara Leube

Mov Disord· December 2012

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Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.
Carsten Eggers, Alexander E Volk, Deniz Kahraman, Gereon R Fink, Barbara Leube

Parkinsonism Relat Disord· June 2012

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A phenotype map for 14q32.3 terminal deletions.
Hartmut Engels, Herdit M Schüler, Alexander M Zink, Eva Wohlleber, Antje Brockschmidt, Barbara Leube

Am J Med Genet A· April 2012

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Mutations in CIZ1 cause adult onset primary cervical dystonia.
Jianfeng Xiao, Ryan J Uitti, Yu Zhao, Satya R Vemula, Joel S Perlmutter, Barbara Leube

Ann Neurol· April 2012

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Barbara Leube

Nature· August 2011

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A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.
Christian Johannes Hartmann, Barbara Leube, Lars Wojtecki, Beate Betz, Stefan Jun Groiss

J Neurol· June 2011

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Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
Barbara Leube, Karin Hardt, Sebastian Portier, Bettina Westhoff, Marcus Jäger

Genet Test· March 2008

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Clinical outcome and genotype in patients with hereditary multiple exostoses.
Marcus Jäger, Bettina Westhoff, Sebastian Portier, Barbara Leube, Karin Hardt

J Orthop Res· December 2007

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Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
Daniela Steinberger, Jutta Trübenbach, Birgit Zirn, Barbara Leube, Gabriele Wildhardt

Neurogenetics· January 2007

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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