Prof Tom J de Koning, MD PhD MBA
Lunds Universitet
H-index: 53
Europe-Sweden
Top articles of Prof Tom J de Koning, MD PhD MBA
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Clinical characteristics suggestive of a genetic cause in cerebral palsy: A systematic review | AM Janzing E Eklund Tom J De Koning H Eggink | 2024/2/2 | |
Physician’s conceptions of the decision-making process when managing febrile infants≤ 60 days old: a phenomenographic qualitative study | BMC pediatrics | Ioannis Orfanos Rose-Marie Lindkvist Erik GA Eklund Kristina Elfving Tobias Alfvén | 2024/1/26 |
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease | The American Journal of Human Genetics | Joel Wallenius Efthymia Kafantari Emma Jhaveri Sorina Gorcenco Adam Ameur | 2024/1/4 |
Serine Deficiency Disorders | Saskia N van der Crabben Tom J de Koning | 2023/12/20 | |
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy | Genes | Lea Hentrich Mered Parnes Timothy Edward Lotze Rohini Coorg Tom J de Koning | 2023/9/25 |
Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement | European Journal of Paediatric Neurology | Suus AM van Noort Sterre van der Veen Tom J de Koning Marina AJ de Koning-Tijssen Dineke S Verbeek | 2023/7/1 |
A screening tool to quickly identify movement disorders in patients with inborn errors of metabolism | Movement Disorders | Lisette H Koens Marrit R Klamer Deborah A Sival Bettina Balint Kailash P Bhatia | 2023/4 |
Gut Microbiome Composition in Dystonia Patients | International Journal of Molecular Sciences | Elze R Timmers J Casper Swarte Ranko Gacesa Johannes R Björk Rinse K Weersma | 2023/1/25 |
Psychiatric manifestations of inborn errors of metabolism: A systematic review | Nikita van de Burgt Willem van Doesum Mirjam Grevink Stephanie van Niele Tom de Koning | 2023/1/1 | |
Parkinsonism in genetic neurodevelopmental disorders: a systematic review | Emma NMM von Scheibler Agnies M van Eeghen Tom J de Koning Mark L Kuijf Janneke R Zinkstok | 2023/1 | |
Comparison of patient characteristics and long‐term mortality between transferred and non‐transferred COVID‐19 patients in Dutch intensive care units: A national cohort study | Acta Anaesthesiologica Scandinavica | Safira A Wortel Ferishta Bakhshi‐Raiez Fabian Termorshuizen Dylan W De Lange Dave A Dongelmans | 2022/10 |
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients | Journal of Inherited Metabolic Disease | Lisette H Koens Inge Tuitert Hans Blokzijl Marc Engelen Femke CC Klouwer | 2022/9 |
Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients | Scientific Reports | Elze R Timmers Débora E Peretti Marenka Smit Bauke M de Jong Rudi AJO Dierckx | 2022/4/15 |
Amino Acid Synthesis Deficiencies | Tom J De Koning Gajja Salomons | 2022/2/21 | |
The mitochondrial epigenome: an unexplored avenue to explain unexplained myopathies? | International Journal of Molecular Sciences | Archibold Mposhi Lin Liang Kevin P Mennega Dilemin Yildiz Crista Kampert | 2022/2/16 |
Developmental neurobiology of cerebellar and Basal Ganglia connections | Deborah A Sival Suus AM van Noort Marina AJ Tijssen Tom J de Koning Dineke S Verbeek | 2022/1/1 | |
Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients | Clinical Epigenetics | Elze R Timmers Torsten Plösch Marenka Smit Ingrid H Hof Rikst Nynke Verkaik-Schakel | 2022/12 |
Case Report:“Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy” | Frontiers in Psychiatry | M van Verseveld LH Koens Tom J de Koning RLE Derikx JA van Waarde | 2021/10/22 |
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients | Parkinsonism & Related Disorders | Elze R Timmers Martijn van Faassen Marenka Smit Anouk Kuiper Ingrid H Hof | 2021/10/1 |
Novel Orally Formulated Mixed Micelles Optimize Vitamin K Absorption Under Bile-Deficient Conditions | Gastroenterology | Thijs Rooimans Tanca Minderhoud Nerea Leal Herman Vromans Cornelus van Nostrum | 2021/9/1 |
