Go to content
- {{#headlines}}
- {{title}} {{/headlines}}
Profile
| Academic position | Post Doc |
|---|---|
| Research fields | Human Genetics,Molecular and Cellular Neurology and Neuropathology |
| Keywords | Whole-Genome Sequencing, Neurodegenerative diseases, Rare disease genetics, Next-generation sequencing analysis, Rare neurological diseases |
Current contact address
| Country | Germany |
|---|---|
| City | Tübingen |
| Institution | Eberhard Karls Universität Tübingen |
| Institute | Hertie-Institut für klinische Hirnforschung |
Host during sponsorship
| Prof. Dr. med. Matthis Synofzik | Hertie-Institut für klinische Hirnforschung, Eberhard Karls Universität Tübingen, Tübingen |
|---|---|
| Start of initial sponsorship | 01/02/2023 |
Program(s)
| 2022 | Humboldt Research Fellowship Programme for Postdocs |
|---|
Publications (partial selection)
| 2024 | Danique Beijer, Sheila Marte, Jiaxin C Li Willem De Ridder Jessie Z Chen, Abigail L D Tadenev, Kathy E Miers, Tine Deconinck Richard Macdonell, Wilson Marques Jr, Peter De Jonghe, Samia L Pratt, Rebecca Meyer-Schuman, Stephan Züchner, Anthony Antonellis, Robert W Burgess, Jonathan Baets: Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases. In: Brain Communications, 2024, |
|---|---|
| 2024 | Maike F Dohrn, Danique Beijer, Museer A Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C Danzi, Matthis Synofzik, Carsten G Bönnemann, A Nazlı Başak Thorsten Hornemann, Stephan Zuchner: Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. In: J Neurol Neurosurg Psychiatry, 2024, |
| 2023 | Beijer, D. Fogel, B. L. Beltran, S. Danzi, M. C. Nemeth, A. H. Zuchner, S. Synofzik, M. Agi Ataxia Ngs genomics, platforms Working Group: Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative. In: Cerebellum, 2023, |