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- 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
- 2019
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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
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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
A clinical diagnostic algorithm for early onset cerebellar ataxia
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- Contribution to journal › Article
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Mark
Identification of human D lactate dehydrogenase deficiency
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- Contribution to journal › Article
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Mark
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
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- Contribution to journal › Article
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Mark
Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity
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- Contribution to journal › Article
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Mark
Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
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- Contribution to journal › Scientific review
- 2018
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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