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- 2021
-
Mark
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach
(
- Contribution to journal › Scientific review
- 2020
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(
- Contribution to journal › Article
- 2018
-
Mark
Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)—Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?
(
- Contribution to journal › Letter
-
Mark
Expanding the ADCY5 phenotype toward spastic paraparesis : Amutation in the M2 domain
(
- Contribution to journal › Article