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- 2024
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Mark
Conventional and novel anti-seizure medications reveal a particular role for GABAA in a North Sea progressive myoclonus Epilepsy Drosophila model
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- Contribution to journal › Article
- 2022
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Mark
Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients
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- Contribution to journal › Article
- 2021
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Mark
Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases
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- Contribution to journal › Article
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Mark
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
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- Contribution to journal › Article
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Mark
Diagnostic approach to paediatric movement disorders : a clinical practice guide
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- Contribution to journal › Article
- 2020
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Mark
Inborn Errors of Metabolism in Adults : Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
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- Contribution to journal › Article
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
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- Contribution to journal › Article
- 2019
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Mark
Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
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- Contribution to journal › Scientific review
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Mark
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia
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- Contribution to journal › Article
- 2018
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Mark
Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)—Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?
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- Contribution to journal › Letter
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Mark
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism
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- Contribution to journal › Scientific review
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Mark
Progressive myoclonus ataxia : Time for a new definition?
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- Contribution to journal › Article
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Mark
Expanding the ADCY5 phenotype toward spastic paraparesis : Amutation in the M2 domain
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- Contribution to journal › Article
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Mark
Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia
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- Contribution to journal › Article
- 2017
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Mark
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis
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- Contribution to journal › Scientific review