Tom J de Koning

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2021
Mark Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy"
van Verseveld, M ; Koens, L H ; de Koning, Tom J ^LU ; Derikx, R L E and van Waarde, J A (2021) In Frontiers in Psychiatry 12. p.1-4
- Contribution to journal › Article
Mark Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care : Cohort Study of Returning UK Biobank Participants
Castela Forte, José ; Folkertsma, Pytrik ; Gannamani, Rahul ; Kumaraswamy, Sridhar ; Mount, Sarah ; de Koning, Tom J ^LU ; van Dam, Sipko and Wolffenbuttel, Bruce H R (2021) In Journal of Personalized Medicine 11(12).
- Contribution to journal › Article
Mark The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
Mainka, Tina ; Fischer, Jan Frederik ; Huebl, Julius ; Jung, Alexandra ; Lier, Dinah ; Mosejova, Alexandra ; Skorvanek, Matej ; de Koning, Tom J. ^LU ; Kühn, Andrea A. and Freisinger, Peter , et al. (2021) In Parkinsonism and Related Disorders 89. p.167-175
- Contribution to journal › Article
Mark How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach
Koens, Lisette H ; de Vries, Jeroen J ; Vansenne, Fleur ; de Koning, Tom J ^LU and Tijssen, Marina A J (2021) In Parkinsonism & Related Disorders 85. p.124-132
- Contribution to journal › Scientific review
Mark Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Bonora, Elena ; Chakrabarty, Sanjiban ; Kellaris, Georgios ; Tsutsumi, Makiko ; Bianco, Francesca ; Bergamini, Christian ; Ullah, Farid ; Isidori, Federica ; Liparulo, Irene and Diquigiovanni, Chiara , et al. (2021) In Brain : a journal of neurology 144(5). p.1451-1466
- Contribution to journal › Article
Mark Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
Gannamani, Rahul ; van der Veen, Sterre ; van Egmond, Martje ; de Koning, Tom J ^LU and Tijssen, Marina A J (2021) In Movement Disorders Clinical Practice 8(3). p.311-321
- Contribution to journal › Scientific review
2020
Mark The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults
Mainka, Tina ; Ziagaki, Athanasia ; de Koning, Tom J. ^LU ; Kühn, Andrea A. and Ganos, Christos (2020) In Movement Disorders Clinical Practice 7(8). p.1004-1006
- Contribution to journal › Letter
Mark Inborn Errors of Metabolism in Adults : Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
Ulmanová, Olga ; Koens, Lisette H. ; Jahnová, Helena ; de Vries, Jeroen J. ; de Koning, Tom J. ^LU ; Růžička, Evžen and Tijssen, Marina A.J. (2020) In Movement Disorders Clinical Practice 7(S3). p.85-88
- Contribution to journal › Article
Mark Early Onset Ataxia with Comorbid Dystonia : Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology
Sival, Deborah A ; Garofalo, Martinica ; Brandsma, Rick ; Bokkers, Tom A ; van den Berg, Marloes ; de Koning, Tom J ^LU ; Tijssen, Marina A J and Verbeek, Dineke S (2020) In Diagnostics 10(12).
- Contribution to journal › Article
Mark De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
Wijnen, Iris G.M. ; Veenstra-Knol, Hermine E. ; Vansenne, Fleur ; Gerkes, Erica H. ; de Koning, Tom ^LU ; Vos, Yvonne J. ; Tijssen, Marina A.J. ; Sival, Deborah ; Darin, Niklas and Vanhoutte, Els K. , et al. (2020) In European Journal of Human Genetics 28(6). p.763-769
- Contribution to journal › Article

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