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- 2015
-
Mark
Myoclonus in childhood-onset neurogenetic disorders : The importance of early identification and treatment
(
- Contribution to journal › Article
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Mark
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI
(
- Contribution to journal › Article
-
Mark
A novel diagnostic approach to patients with myoclonus
(
- Contribution to journal › Scientific review
-
Mark
Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma
(
- Contribution to journal › Article
-
Mark
Non-motor symptoms in genetically defined dystonia : Homogenous groups require systematic assessment
(
- Contribution to journal › Scientific review
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Mark
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation : An international multicenter study
(
- Contribution to journal › Article
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Mark
Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping
(
- Contribution to journal › Scientific review
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Mark
Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics : The opportunities and challenges
(
- Contribution to journal › Scientific review
- 2014
-
Mark
Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning
(
- Contribution to journal › Article
-
Mark
Serine synthesis disorders
2014) p.123-131(
- Chapter in Book/Report/Conference proceeding › Book chapter