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- 2024
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Mark
The natural history of progressive myoclonus Ataxia
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- Contribution to journal › Article
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Mark
Child-to-adult transition : a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
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- Contribution to journal › Article
- 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
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- Contribution to journal › Article
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Mark
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
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- Contribution to journal › Article
- 2022
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Mark
Developmental neurobiology of cerebellar and Basal Ganglia connections
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- Contribution to journal › Article
- 2020
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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
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
- 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
Crossing barriers : a multidisciplinary approach to children and adults with young-onset movement disorders
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- Contribution to journal › Article