Frederic Ebstein

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Bio

Our research aims to unravel the molecular pathogenesis of neurodevelopmental disorders (NDD) caused by pathogenic variants of the ubiquitin-proteasome system (UPS). To this end, we have generated the “BioTND-UPS” biobank which consists today of >60 specimens derived from NDD patients carrying genomic alterations in UPS genes. We expect from the functional investigations of these samples to identify biomarkers, molecular signatures and/or therapeutic targets specific to these rare diseases.

Education

Experience

Research Interests

Author Statistics

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合作者
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Elke Kruger合作论文数

Institut für Biochemie, Charité-Humboldt University Medical School50

Peter-Michael Kloetzel合作论文数

Institute of Biochemistry, Charite Universitatsmedizin Berlin25

Stephane Bezieau合作论文数

Sebastien Kury合作论文数

Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) Nantes18

Bertrand Isidor合作论文数

Unité de Génétique clinique, Service de génétique médicale, Centre Hospitalier Universitaire de Nantes16

Wallid Deb合作论文数

Virginie Vignard合作论文数

Maja Studencka-Turski合作论文数

Ulrike Seifert合作论文数

Marc Gregoire合作论文数

INSERM U 601;Institut de Biologie;INSERM U 601|Institut de Biologie10

Benjamin Cogné合作论文数

Thomas Besnard合作论文数

Peter Krawitz合作论文数

Tzung-Chien Hsieh合作论文数

National Taiwan University9

Jonas Johannes Papendorf合作论文数

Andrea Lehmann合作论文数

Sandra Mercier合作论文数

Annette Paschen合作论文数

Silvestre Cuinat合作论文数

Richard Golnik合作论文数

Francois Bolduc合作论文数

Watson School of Biological Sciences, Cold Spring Harbor, NY, USA.6

Evan Eichler合作论文数

Department of Genome Sciences, University of Washington;Howard Hughes Medical Institute Investigator;The Brotman Baty Institute;New York Genome Center6

Knaus Alexej合作论文数

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin;Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.;Max Planck Institute for Molecular Genetics, Charité-Universitätsmedizin Berlin6

Tianyun Wang (王天云)合作论文数

Kathrin Textoris-Taube合作论文数

Institute for Biochemistry, Charité-Universitätsmedizin Berlin;Germany6

Jill Anne Mokry合作论文数

Department of Molecular and Human Genetics, Baylor College of Medicine6

Berenice Toutain合作论文数

C SAPEDE合作论文数

Hannah Klinkhammer合作论文数

Med Fac, Univ Bonn5

Sophie Møller合作论文数

Department for Nutrition, Exercise and Sports, University of Copenhagen5

Raphaela T. Goldbach-Mansky合作论文数

Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health5

Kallinich Tilmann合作论文数

Dirk Schadendorf合作论文数

Clinic for Dermatology, University Hospital Essen;University of Duisburg-Essen;West German Tumor Center5

Dominique Bonneau合作论文数

From the Departments of Endocrine Surgery, Endocrinology, Medical Genetics, and Nuclear Medicine, Jean Bernard Hospital5

Denise Horn合作论文数

Adriana A. Jesus合作论文数

Petra Henklein合作论文数

Frederic Laumonnier合作论文数

University François-Rabelais, UMR Imaging and Brain, CELPHEDIA PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of StrasbourgFrance 5

Elke Hammer合作论文数

Ype Elgersma合作论文数

Department of Biochemistry;Academic Medical Centre;Department of Biochemistry, Academic Medical Centre5

Sebastien Kuery合作论文数

I Barbieux合作论文数

Barbara A Zieba合作论文数

Gonca Cetin合作论文数

Wolfgang Meiswinkel合作论文数

Alexander Hustinx合作论文数

H. Lesmann合作论文数

U. Seifert合作论文数

Marietta M. de Guzman合作论文数

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Papers共 101 篇Author StatisticsCo-AuthorSimilar Experts