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- 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
A clinical diagnostic algorithm for early onset cerebellar ataxia
(
- 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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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
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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
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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