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2016
Mark Patience is the key : Contraceptive induced chorea in a girl with Down Syndrome
Eggink, Hendriekje ; Kuiper, Anouk ; Delnooz, Cathérine C.S. ; Sival, Deborah A. ; De Koning, Tom J. ^LU and Tijssen, Marina A.J. (2016) In European Journal of Paediatric Neurology 20(4). p.671-673
- Contribution to journal › Article
Mark Inborn Errors of Metabolism That Cause Sudden Infant Death : A Systematic Review with Implications for Population Neonatal Screening Programmes
Van Rijt, Willemijn J. ; Koolhaas, Geneviève D. ; Bekhof, Jolita ; Heiner Fokkema, M. Rebecca ; De Koning, Tom J. ^LU ; Visser, Gepke ; Schielen, Peter C.J.I. ; Van Spronsen, Francjan J. and Derks, Terry G.J. (2016) In Neonatology 109(4). p.297-302
- Contribution to journal › Scientific review
Mark Reliability of phenotypic early-onset ataxia assessment : A pilot study
Lawerman, Tjitske F. ; Brandsma, Rick ; van Geffen, Joke T. ; Lunsing, Roelineke J. ; Burger, Huibert ; Tijssen, Marina A.J. ; de Vries, Jeroen J. ; de Koning, Tom J. ^LU and Sival, Deborah A. (2016) In Developmental Medicine and Child Neurology 58(1). p.70-76
- Contribution to journal › Article
2015
Mark Dystonia in children and adolescents : A systematic review and a new diagnostic algorithm
Van Egmond, Martje E. ; Kuiper, Anouk ; Eggink, Hendriekje ; Sinke, Richard J. ; Brouwer, Oebele F. ; Verschuuren-Bemelmans, Corien C. ; Sival, Deborah A. ; Tijssen, Marina A.J. and De Koning, Tom J. ^LU (2015) In Journal of Neurology, Neurosurgery and Psychiatry 86(7). p.774-781
- Contribution to journal › Scientific review
Mark Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea
van Egmond, Martje E. ; Kuiper, Anouk ; Elting, Jan Willem J. ; Brouwer, Oebele F. ; de Koning, Tom J. ^LU and Tijssen, Marina A.J. (2015) In Movement Disorders Clinical Practice 2(1). p.61-63
- Contribution to journal › Article
Mark Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping
De Koning, Tom J. ^LU and Tijssen, Marina A.J. (2015) In Nature Reviews Gastroenterology and Hepatology 11. p.78-79
- Contribution to journal › Scientific review
Mark Myoclonus in childhood-onset neurogenetic disorders : The importance of early identification and treatment
Van Egmond, Martje E. ; Elting, Jan Willem J. ; Kuiper, Anouk ; Zutt, Rodi ; Heineman, Kirsten R. ; Brouwer, Oebele F. ; Sival, Deborah A. ; Willemsen, Michel A. ; Tijssen, Marina A.J. and De Koning, Tom J. ^LU (2015) In European Journal of Paediatric Neurology 19(6). p.726-729
- Contribution to journal › Article
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
Heywood, Wendy E. ; Camuzeaux, Stephane ; Doykov, Ivan ; Patel, Nina ; Preece, Rhian Lauren ; Footitt, Emma ; Cleary, Maureen ; Clayton, Peter ; Grunewald, Stephanie and Abulhoul, Lara , et al. (2015) In Analytical Chemistry 87(24). p.12238-12244
- Contribution to journal › Article
Mark A novel diagnostic approach to patients with myoclonus
Zutt, Rodi ; Van Egmond, Martje E. ; Elting, Jan Willem ; Van Laar, Peter Jan ; Brouwer, Oebele F. ; Sival, Deborah A. ; Kremer, Hubertus P. ; De Koning, Tom J. ^LU and Tijssen, Marina A. (2015) In Nature Reviews Neurology 11. p.687-697
- Contribution to journal › Scientific review
Mark Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma
Luykx, J. J. ; Bakker, S. C. ; Visser, W. F. ; Verhoeven-Duif, N. ; Buizer-Voskamp, J. E. ; Den Heijer, J. M. ; Boks, M. P.M. ; Sul, J. H. ; Eskin, E. and Ori, A. P. , et al. (2015) In Molecular Psychiatry 20(12). p.1557-1564
- Contribution to journal › Article

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