Zobrazeno 1 - 10 of 69 pro vyhledávání: '"T. J. de Koning"'
1
A clinical diagnostic algorithm for early onset cerebellar ataxia
Autor: Sara Nuovo, Ginevra Zanni, Dana Craiu, Nina Barišić, Rajesh Kumar, J. Gburek, R. Brandsma, I.F.M. de Coo, V. Brankovic-Sreckovic, Bwee Tien Poll-The, Corien C. Verschuuren-Bemelmans, Enrico Bertini, Lubov Blumkin, Coriene E. Catsman-Berrevoets, Michèl A.A.P. Willemsen, Hubertus P. H. Kremer, Gessica Vasco, Colin R. Kennedy, Enza Maria Valente, Alfons Macaya, Oebele F. Brouwer, Maja Steinlin, M. Mirabelli-Badenier, Andrea H. Németh, Eugen Boltshauser, T. J. de Koning, D. Amrom, Tally Lerman-Sagie, Marina A. J. Tijssen, Katrin Bürk, Deborah A Sival, Matthis Synofzik, Alessia Micalizzi, Peter Baxter
Publikováno v: European Journal of Paediatric Neurology, 23, 692-706
European Journal of Paediatric Neurology, 23(54), 692-706. W.B. Saunders
European journal of paediatric neurology : EJPN, 23(5), 692-706. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 23(5), 692-706. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 23, 54, pp. 692-706
European Journal of Paediatric Neurology, 23(54), 692-706. ELSEVIER SCI LTD
European journal of paediatric neurology 23(5), 692-706 (2019). doi:10.1016/j.ejpn.2019.08.004
Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7e086c367a7dfacf1d697f1d96ed0c
http://hdl.handle.net/11573/1540246
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3
Non-motor symptoms in genetically defined dystonia
Autor: T. J. de Koning, Kathryn J. Peall, A. Kuiper, Marina A. J. Tijssen
Publikováno v: Parkinsonism & Related Disorders. 21(9):1031-1040
Introduction: Dystonia is a movement disorder involving sustained or intermittent muscle contractions resulting in abnormal movements and postures. Identification of disease causing genes has allowed examination of genetically homogenous groups. Unli
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b626ef3a7e5ce5f2a396fc6d7634a5f1
https://doi.org/10.1016/j.parkreldis.2015.07.003
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4
Non-motor symptoms and quality of life in dopa-responsive dystonia patients
Autor: Elze R. Timmers, Nicole I. Wolf, Tessa Wassenberg, E A J Peeters, Bwee Tien Poll-The, Marina A. J. Tijssen, Anna L. Bartels, Anouk Kuiper, D J Kamphuis, T. J. de Koning, Marenka Smit
Publikováno v: Parkinsonism & Related Disorders, 45, 57-62
Parkinsonism & Related Disorders, 45, pp. 57-62
Parkinsonism & Related Disorders, 45, 57-62. Elsevier
Parkinsonism & related disorders, 45, 57-62. Elsevier BV
Parkinsonism and Related Disorders, 45, 57-62. Elsevier BV
Timmers, E R, Kuiper, A, Smit, M, Bartels, A L, Kamphuis, D J, Wolf, N I, Poll-The, B T, Wassenberg, T, Peeters, E A J, de Koning, T J & Tijssen, M A J 2017, ' Non-motor symptoms and quality of life in dopa-responsive dystonia patients ', Parkinsonism and Related Disorders, vol. 45, pp. 57-62 . https://doi.org/10.1016/j.parkreldis.2017.10.005
Background: In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de49a50b9d3ec37f474fbdaac3e009e
http://hdl.handle.net/2066/190488
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5
Clinical Pearls - how my patients taught me: The fainting lark symptom
Autor: Marina A. J. Tijssen, Anouk Kuiper, M.D. Oosterhoff, Deborah A Sival, B. van Harten, T. J. de Koning, M. E. van Egmond, Mark P. M. Harms
Publikováno v: Journal of clinical movement disorders, 3(16)
Journal of Clinical Movement Disorders
Background Compulsive movements, complex tics and stereotypies are frequent, especially among patients with autism or psychomotor retardation. These movements can be difficult to characterize and can mimic other conditions like epileptic seizures or
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69538d8eb228e8b6136ce992432f2787
https://doi.org/10.1186/s40734-016-0045-8
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6
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
Autor: Anouk Kuiper, Johannes H. T. M. Koelman, Marina A. J. Tijssen, Maraike Coenen, Jacoba M. Spikman, Marc Engelen, J. de Vries, Jan Willem J. Elting, Lisette H. Koens, T. J. de Koning, F. J. van Spronsen
Publikováno v: Orphanet journal of rare diseases, 11(1):121. BMC
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 11(1). BioMed Central
Background: Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neur
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7acdfb3d08cac7bb8d537bd5e1a6f4ca
https://research.rug.nl/en/publications/f843d238-8951-4ba8-b7c7-c805c5e1527f
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7
Neurometabolic disorders are treatable causes of dystonia
Autor: Marina A. J. Tijssen, Hendriekje Eggink, Anouk Kuiper, T. J. de Koning
Publikováno v: Revue neurologique, 172(8-9), 455-464. MASSON EDITEUR
A broad range of rare inherited metabolic disorders can present with dystonia. For clinicians, it is important to recognize dystonic features, but it can be complicated by the mixed and complex clinical picture seen in many neurometabolic patients. C
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bfda603c88b48799d7d92df6db5706
https://research.rug.nl/en/publications/8c089d61-23e3-4f8b-aee3-f51ba9ca01f0
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8
Serotonergic perturbations in dystonia disorders-a systematic review
Autor: K. E. Niezen-Koning, Anouk Kuiper, Marenka Smit, T. J. de Koning, Ido P. Kema, Rudi Dierckx, M. van Faassen, Marina A. J. Tijssen, Anna L. Bartels
Publikováno v: Neuroscience and biobehavioral reviews. 65
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions. Emerging data describe high prevalences of non-motor symptoms, including psychiatric co-morbidity, as part of the phenotype of dystonia. Basa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3f4fbba71bba8e80e1191ddaa2e7bf9
https://pubmed.ncbi.nlm.nih.gov/27073048
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9
Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry
Autor: G. Visser, M. Bosma, T. J. de Koning, A. Middendorp, N. M. Verhoeven-Duif, M. Albersen, M. G. M. de Sain-van der Velden, M. van der Ham
Publikováno v: Analytica Chimica Acta. 712:108-114
Since vitamin B6 is essential for normal functioning of the central nervous system, there is growing need for sensitive analysis of B6 vitamers in cerebrospinal fluid (CSF). This manuscript describes the development and validation of a rapid, sensiti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c172d30a453b8e73e3ecf65e7cb9f998
https://doi.org/10.1016/j.aca.2011.11.018
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10
Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma
Autor: Anil P.S. Ori, Roel A. Ophoff, Joseph DeYoung, Teus H. Kappen, Nanda M. Verhoeven-Duif, Rita M. Cantor, Jacobine E. Buizer-Voskamp, J M den Heijer, Jae Hoon Sul, Eleazar Eskin, Wouter F. Visser, E P A van Dongen, P Borgdorff, E Pariama, Steven C. Bakker, Eric Strengman, Jurjen J. Luykx, Marco P. Boks, Peter Bruins, Jacob A. S. Vorstman, T. J. de Koning, René S. Kahn
Publikováno v: Molecular Psychiatry, 20(12), 1557-1564. Nature Publishing Group
Molecular Psychiatry, 20(12), 1557. Nature Publishing Group
The N-methyl-d-aspartate receptor (NMDAR) coagonists glycine, d-serine and l-proline play crucial roles in NMDAR-dependent neurotransmission and are associated with a range of neuropsychiatric disorders. We conducted the first genome-wide association
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c3c309201c9573ece928c818977a497
https://research.rug.nl/en/publications/987f4814-48ca-4343-a25e-97735306d5ae
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