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2021
Mark Treatment of ARS deficiencies with specific amino acids
Kok, Gautam ; Tseng, Laura ; Schene, Imre F. ; Dijsselhof, Monique E. ; Salomons, Gajja ; Mendes, Marisa I. ; Smith, Desiree E.C. ; Wiedemann, Arnaud ; Canton, Marie and Feillet, François , et al. (2021) In Genetics in Medicine 23(11). p.2202-2207
- Contribution to journal › Article
Mark Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases
Huang, Miaozhen ; de Koning, Tom J. ^LU ; Tijssen, Marina A.J. and Verbeek, Dineke S. (2021) In Biochimica et Biophysica Acta - Molecular Basis of Disease 1867(1).
- 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 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 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 A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
Polet, Sjoukje S. ; Anderson, David G. ; Koens, Lisette H. ; van Egmond, Martje E. ; Drost, Gea ; Brusse, Esther ; Willemsen, Michèl AAP ; Sival, Deborah A. ; Brouwer, Oebele F. and Kremer, Hubertus PH , et al. (2020) In Parkinsonism and Related Disorders 72. p.44-48
- 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
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

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