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- 2020
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Mark
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
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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
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Mark
Early Onset Ataxia with Comorbid Dystonia : Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology
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- Contribution to journal › Article
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Mark
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults
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- Contribution to journal › Letter
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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
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
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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