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2025
Mark Eye movement disorders in genetic dystonia syndromes : A literature overview
Pollini, Luca ; Pettenuzzo, Ilaria ; Tijssen, Marina A J ; Koens, Lisette H ; De Koning, Tom J ^LU ; Leuzzi, Vincenzo and Eggink, Hendriekje (2025) In Parkinsonism & Related Disorders 133.
- 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
Mark Quality of Life, Anxiety and Depressive Symptoms in North Sea–Progressive Myoclonus Epilepsy : A Comparative Analysis With Other Hyperkinetic Movement Disorders
Polet, S. S. ; Bent, T. ; Tijssen, M. A.J. ; de Koning, T. J. ^LU and Timmers, E. R. (2025) In Acta Neurologica Scandinavica 2025(1).
- Contribution to journal › Article
Mark Key lessons from the first international treatment eligibility committee : the case of metachromatic leukodystrophy
Schoenmakers, Daphne H ; Asbreuk, Marije A B C ; Martin, Tamara ; Datema, Mareen ; Beerepoot, Shanice ; Inbar-Feigenberg, Michal ; Groeschel, Samuel ; Kehrer, Christiane ; Øberg, Andreas and Sevin, Caroline , et al. (2025) In European Journal of Paediatric Neurology 57. p.72-81
- Contribution to journal › Article
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 Gene therapy in advanced metachromatic leukodystrophy : tempering expectations
Schoenmakers, Daphne H. ; Beerepoot, Shanice ; Adang, Laura A. ; Asbreuk, Marije A.B.C. ; Bergner, Caroline G. ; Bley, Annette E. ; Boelens, Jaap Jan ; Calbi, Valeria ; Darling, Alejandra and Eklund, Erik ^LU , et al. (2025) In Protein and Cell 16(1). p.12-15
- Contribution to journal › Debate/Note/Editorial
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
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 White matter abnormalities in amino acid disorders and organic acidurias
de Koning, T J ^LU (2024) In Handbook of Clinical Neurology 204. p.173-196
- Chapter in Book/Report/Conference proceeding › Book chapter

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