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- 2023
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Mark
Early onset ataxia with comorbid myoclonus and epilepsy : A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement
(
- Contribution to journal › Article
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Mark
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
(
- Contribution to journal › Article
- 2022
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Mark
A relatively common hypomorphic variant in WARS2 causes monogenic disease
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- Contribution to journal › Debate/Note/Editorial
- 2019
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Mark
Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
(
- Contribution to journal › Scientific review
- 2018
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Mark
Progressive myoclonus ataxia : Time for a new definition?
(
- Contribution to journal › Article
- 2017
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Mark
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study
(
- Contribution to journal › Article
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Mark
Prognostic significance of clinical seizures after cardiac arrest and target temperature management
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- Contribution to journal › Article
- 2015
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Mark
Myoclonus in childhood-onset neurogenetic disorders : The importance of early identification and treatment
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- Contribution to journal › Article
- 2014
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Mark
Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
(
- Contribution to journal › Article