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2025
Mark The Genotypic and Phenotypic Spectrum of GOSR2 Mutations : Clinical and Pathophysiological Insights
Polet, Sjoukje S. ; Siegal, Elisabeth Z. ; Fuchs, Sabine A. ; Tijssen, Marina A.J. and de Koning, Tom J. ^LU (2025) In Journal of Inherited Metabolic Disease 48(6). p.1-13
- Contribution to journal › Scientific review
2018
Mark Progressive myoclonus ataxia : Time for a new definition?
van der Veen, Sterre ; Zutt, Rodi ; Elting, Jan Willem J. ; Becker, Charlotte E. ^LU ; de Koning, Tom J. ^LU and Tijssen, Marina A.J. (2018) In Movement Disorders 33(8). p.1281-1286
- Contribution to journal › Article
2014
Mark Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
van Egmond, Martje E. ; Verschuuren-Bemelmans, Corien C. ; Nibbeling, Esther A. ; Elting, Jan Willem J. ; Sival, Deborah A. ; Brouwer, Oebele F. ; de Vries, Jeroen J. ; Kremer, Hubertus P. ; Sinke, Richard J. and Tijssen, Marina A. , et al. (2014) In Movement Disorders 29(1). p.139-143
- Contribution to journal › Article