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2024
Mark Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
Wallenius, Joel ^LU ; Kafantari, Efthymia ^LU ; Jhaveri, Emma ; Gorcenco, Sorina ^LU ; Ameur, Adam ; Karremo, Christin ^LU ; Dobloug, Sigurd ^LU ; Karrman, Kristina ^LU ; de Koning, Tom ^LU and Ilinca, Andreea ^LU , et al. (2024) In American Journal of Human Genetics 111(1). p.82-95
- Contribution to journal › Article
Mark Conventional and novel anti-seizure medications reveal a particular role for GABA_A in a North Sea progressive myoclonus Epilepsy Drosophila model
Polet, Sjoukje S. ; de Koning, Tom J. ^LU ; Lambrechts, Roald A. ; Tijssen, Marina A.J. ; Sibon, Ody C.M. and Gorter, Jenke A. (2024) In Epilepsy Research 203.
- Contribution to journal › Article
Mark The natural history of progressive myoclonus Ataxia
van der Veen, Sterre ; Eggink, Hendriekje ; Elting, Jan Willem J ; Sival, Deborah ; Verschuuren-Bemelmans, Corien C ; De Koning, Tom J ^LU and Tijssen, Marina A J (2024) In Neurobiology of Disease 199.
- Contribution to journal › Article
Mark Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old : a phenomenographic qualitative study
Orfanos, Ioannis ^LU ; Lindkvist, Rose-Marie ^LU ; Eklund, Erik G A ^LU ; Elfving, Kristina ^LU ; Alfvén, Tobias ^LU ; de Koning, Tom J ^LU and Castor, Charlotte ^LU (2024) In BMC Pediatrics 24.
- Contribution to journal › Article
2023
Mark Psychiatric manifestations of inborn errors of metabolism : A systematic review
van de Burgt, Nikita ; van Doesum, Willem ; Grevink, Mirjam ; van Niele, Stephanie ; de Koning, Tom ^LU ; Leibold, Nicole ; Martinez-Martinez, Pilar ; van Amelsvoort, Therese and Cath, Danielle (2023) In Neuroscience and Biobehavioral Reviews 144.
- Contribution to journal › Scientific review
Mark Parkinsonism in Genetic Neurodevelopmental Disorders : A Systematic Review
von Scheibler, Emma N.M.M. ; van Eeghen, Agnies M. ; de Koning, Tom J. ^LU ; Kuijf, Mark L. ; Zinkstok, Janneke R. ; Müller, Annelieke R. ; van Amelsvoort, Thérèse A.M.J. and Boot, Erik (2023) In Movement Disorders Clinical Practice 10(1). p.17-31
- Contribution to journal › Scientific review
Mark Gut Microbiome Composition in Dystonia Patients
Timmers, Elze R ; Swarte, J Casper ; Gacesa, Ranko ; Björk, Johannes R ; Weersma, Rinse K ; Tijssen, Marina A J ; de Koning, Tom J ^LU ; Harmsen, Hermie J M and Niezen-Koning, Klary E (2023) In International Journal of Molecular Sciences 24(3). p.1-15
- Contribution to journal › Article
Mark A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
Koens, Lisette H ; Klamer, Marrit R ; Sival, Deborah A ; Balint, Bettina ; Bhatia, Kailash P ; Contarino, Maria Fiorella ; van Egmond, Martje E ; Erro, Roberto ; Friedman, Jennifer and Fung, Victor S C , et al. (2023) In Movement Disorders 38(4). p.646-653
- Contribution to journal › Article
Mark Early onset ataxia with comorbid myoclonus and epilepsy : A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement
van Noort, Suus A M ; van der Veen, Sterre ; de Koning, Tom J ^LU ; de Koning-Tijssen, Marina A J ; Verbeek, Dineke S and Sival, Deborah A (2023) In European Journal of Paediatric Neurology 45. p.47-54
- Contribution to journal › Article
Mark Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
Hentrich, Lea ; Parnes, Mered ; Lotze, Timothy Edward ; Coorg, Rohini ; de Koning, Tom J ^LU ; Nguyen, Kha M ; Yip, Calvin K ; Jungbluth, Heinz ; Koy, Anne and Dafsari, Hormos Salimi (2023) In Genes 14(10).
- Contribution to journal › Article

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