Neurometabolic and neurogenetic disorders group

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2025
Mark Metachromatic Leukodystrophy : New Therapy Advancements and Emerging Research Directions
Asbreuk, Marije A B C ; Schoenmakers, Daphne H ; Adang, Laura Ann ; Beerepoot, Shanice ; Bergner, Caroline ; Bley, Annette ; Boelens, Jaap Jan ; Bugiani, Marianna ; Calbi, Valeria and García-Cazorla, Àngeles , et al. (2025) In Neurology 105(2).
- Contribution to journal › Scientific review
Mark Genetics of upper limb tremor in clinical practice : a systematic literature review
Everlo, Cheryl S J ; Tijssen, Marina A J ; Emre, Baran ; Heida, Sophieke A J ; Marras, Connie ; Klein, Christine ; de Vries, Jeroen ; Verschuuren-Bemelmans, Corien C ; Verbeek, Dineke S and de Koning, Tom J ^LU , et al. (2025) In Parkinsonism & Related Disorders 139.
- Contribution to journal › Scientific review
Mark The Genotypic and Phenotypic Spectrum of GOSR2 Mutations : Clinical and Pathophysiological Insights
Polet, Sjoukje S. ; Siegal, Elisabeth Z. ; Fuchs, Sabine A. ; Tijssen, Marina A.J. and de Koning, Tom J. ^LU (2025) In Journal of Inherited Metabolic Disease 48(6). p.1-13
- Contribution to journal › Scientific review
Mark Mitigating the impact of study-start delays in clinical trials for rare disorders : insights and lessons from a PKAN trial
Bracke, Marleen M.G. ; Polet, Sjoukje S. ; Plantinga, Mirjam and de Koning, Tom J. ^LU (2025) In Orphanet Journal of Rare Diseases 20(1).
- Contribution to journal › Article
Mark Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Hulshof, Ellen M. ; Lantinga, Hugo P. ; Alkemade, Gonnie ; Bosch, Annet M. ; Brands, Marion M. ; Vliet, Danique Draaisma van ; Haijer-Schreuder, Andrea B. ; Hoytema van Konijnenburg, Eva M.M. ; Janssen, Mirian C.H. and van der Klauw, Melanie M. , et al. (2025) In Journal of Inherited Metabolic Disease 48(6).
- Contribution to journal › Article

Publications

Open access (%)

Authors/Editors

de Koning, Tom J (5)
Eklund, Erik (1)

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Neurometabolic and neurogenetic disorders group

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