Tom J de Koning

Professor
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  1. 2021
  2. How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach

    Lisette H Koens, Jeroen J de Vries, Fleur Vansenne, Tom J de Koning & Marina A J Tijssen, 2021 mar 2, I: Parkinsonism & Related Disorders.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  3. Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases

    Miaozhen Huang, Tom J. de Koning, Marina A.J. Tijssen & Dineke S. Verbeek, 2021 jan 1, I: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1867, 1, 165976.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

    Rahul Gannamani, Sterre van der Veen, Martje van Egmond, Tom J de Koning & Marina A J Tijssen, 2021, I: Movement Disorders Clinical Practice. 8, 3, s. 311-321 11 s.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  5. 2020
  6. Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

    Deborah A Sival, Martinica Garofalo, Rick Brandsma, Tom A Bokkers, Marloes van den Berg, Tom J de Koning, Marina A J Tijssen & Dineke S Verbeek, 2020 nov 24, I: Diagnostics. 10, 12

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults

    Tina Mainka, Athanasia Ziagaki, Tom J. de Koning, Andrea A. Kühn & Christos Ganos, 2020 nov, I: Movement Disorders Clinical Practice. 7, 8, s. 1004-1006 3 s.

    Forskningsoutput: TidskriftsbidragLetter

  8. Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

    Olga Ulmanová, Lisette H. Koens, Helena Jahnová, Jeroen J. de Vries, Tom J. de Koning, Evžen Růžička & Marina A.J. Tijssen, 2020 sep 1, I: Movement Disorders Clinical Practice. 7, S3, s. S85-S88

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

    Iris G.M. Wijnen, Hermine E. Veenstra-Knol, Fleur Vansenne, Erica H. Gerkes, Tom de Koning, Yvonne J. Vos, Marina A.J. Tijssen, Deborah Sival, Niklas Darin, Els K. Vanhoutte, Mayke Oosterloo, Maartje Pennings, Bart P. van de Warrenburg & Erik Jan Kamsteeg, 2020 mar 10, I: European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

    Sjoukje S. Polet, David G. Anderson, Lisette H. Koens, Martje E. van Egmond, Gea Drost, Esther Brusse, Michèl AAP Willemsen, Deborah A. Sival, Oebele F. Brouwer, Hubertus PH Kremer, Jeroen J. de Vries, Marina AJ Tijssen & Tom J. de Koning, 2020, I: Parkinsonism and Related Disorders. 72, s. 44-48 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. 2019
  12. North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia

    Roald A. Lambrechts, Sjoukje S. Polet, Alejandra Hernandez-Pichardo, Lisa van Ninhuys, Jenke A. Gorter, Nicola A. Grzeschik, Marina A.J. de Koning-Tijssen, Tom J. de Koning & Ody C.M. Sibon, 2019 dec 15, I: Neuroscience. 423, s. 1-11 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. Identification of human D lactate dehydrogenase deficiency

    Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M.C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì & 8 andra, Paolo Bosco, Karin Geleijns, Monique G.M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften & Judith J. Jans, 2019 dec 1, I: Nature Communications. 10, 1, 1477.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

    Sterre van der Veen, Rodi Zutt, Christine Klein, Connie Marras, Samuel F. Berkovic, John N. Caviness, Hiroshi Shibasaki, Tom J. de Koning & Marina A.J. Tijssen, 2019 nov 1, I: Movement Disorders. 34, 11, s. 1602-1613 12 s.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  15. A clinical diagnostic algorithm for early onset cerebellar ataxia

    R. Brandsma, C. C. Verschuuren-Bemelmans, D. Amrom, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V. Brankovic-Sreckovic, O. F. Brouwer, K. Bürk, C. E. Catsman-Berrevoets, D. Craiu, I. F.M. de Coo, J. Gburek, C. Kennedy, T. J. de Koning, H. P.H. Kremer, R. Kumar, A. Macaya, A. Micalizzi & 14 andra, M. Mirabelli-Badenier, A. Nemeth, S. Nuovo, B. Poll-The, T. Lerman-Sagie, M. Steinlin, M. Synofzik, M. A.J. Tijssen, G. Vasco, M. A.A.P. Willemsen, G. Zanni, E. M. Valente, E. Boltshauser & D. A. Sival, 2019 sep 1, I: European Journal of Paediatric Neurology. 23, 5, s. 692-706 15 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

    Anouk Kuiper, Stephanie Grünewald, Elaine Murphy, Maraike A. Coenen, Hendriekje Eggink, Rodi Zutt, Maria E. Rubio-Gozalbo, Annet M. Bosch, Monique Williams, Terry G.J. Derks, Robin H.L. Lachmann, Martijn C.G.J. Brouwers, Mirian C.H. Janssen, Marina A. Tijssen & Tom J. de Koning, 2019 maj 1, I: Journal of Inherited Metabolic Disease. 42, 3, s. 451-458 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

    Martje E. van Egmond, Maria Fiorella Contarino, Coen H.A. Lugtenberg, Kathryn J. Peall, Oebele F. Brouwer, Victor S.C. Fung, Emmanuel Roze, Roy E. Stewart, Michel A. Willemsen, Nicole I. Wolf, Tom J. de Koning & Marina A. Tijssen, 2019 mar, I: Movement Disorders. 34, 3, s. 317-320

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?

    María Jesús Sobrido, Peter Bauer, Tom De Koning, Thomas Klopstock, Yann Nadjar, Marc C. Patterson, Matthis Synofzik & Chris J. Hendriksz, 2019 jan 21, I: Orphanet Journal of Rare Diseases. 14, 1, 20.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  19. 2018
  20. A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

    Irene J. Hoogeveen, Fabian Peeks, Foekje de Boer, Charlotte M.A. Lubout, Tom J. de Koning, Sebastiaan te Boekhorst, Robert Jan Zandvoort, Rob Burghard, Francjan J. van Spronsen & Terry G.J. Derks, 2018 dec, I: Journal of Inherited Metabolic Disease. 41, 6, s. 929-936

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism

    Lisette H. Koens, Marina A.J. Tijssen, Fiete Lange, Bruce H.R. Wolffenbuttel, Alessandra Rufa, David S. Zee & Tom J. de Koning, 2018 dec, I: Movement Disorders. 33, 12, s. 1844-1856

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  22. Progressive myoclonus ataxia: Time for a new definition?

    Sterre van der Veen, Rodi Zutt, Jan Willem J. Elting, Charlotte E. Becker, Tom J. de Koning & Marina A.J. Tijssen, 2018 aug, I: Movement Disorders. 33, 8, s. 1281-1286

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders

    Martje E van Egmond, Hendriekje Eggink, Anouk Kuiper, Deborah A Sival, Corien C Verschuuren-Bemelmans, Marina A J Tijssen & Tom J de Koning, 2018 apr 6, I: Journal of clinical movement disorders. 5, 3.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)—Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?

    Deborah A. Sival, Fleur Vansenne, Annemieke H. Van der Hout, Marina A.J. Tijssen & Tom J. de Koning, 2018 apr 1, I: Pediatric Neurology. 81, s. 57-58 2 s.

    Forskningsoutput: TidskriftsbidragLetter

  25. Expanding the ADCY5 phenotype toward spastic paraparesis: Amutation in the M2 domain

    Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. Van Der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. De Koning & Marina A.J. Tijssen, 2018 feb, I: Neurology: Genetics. 4, 1, e214.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. Treatable inherited rare movement disorders

    H. A. Jinnah, Alberto Albanese, Kailash P. Bhatia, Francisco Cardoso, Gustavo Da Prat, Tom J. de Koning, Alberto J. Espay, Victor Fung, Pedro J. Garcia-Ruiz, Oscar Gershanik, Joseph Jankovic, Ryuji Kaji, Katya Kotschet, Connie Marras, Janis M. Miyasaki, Francesca Morgante, Alexander Munchau, Pramod Kumar Pal, Maria C. Rodriguez Oroz, Mayela Rodríguez-Violante & 7 andra, Ludger Schöls, Maria Stamelou, Marina Tijssen, Claudia Uribe Roca, Andres de la Cerda, Emilia M. Gatto & for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders, 2018 jan 1, I: Movement Disorders. 33, 1, s. 21-35 15 s.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  27. Ketogenic Diet in Refractory Childhood Epilepsy: Starting With a Liquid Formulation in an Outpatient Setting

    Amerins Weijenberg, Margreet van Rijn, Petra M C Callenbach, Tom J de Koning & Oebele F Brouwer, 2018 jan, I: Child neurology open. 5

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia

    D. L.Marinus Oterdoom, Martje E. Van Egmond, Luisa Cassini Ascencao, J. Marc C. Van Dijk, Assel Saryyeva, Martijn Beudel, Joachim Runge, Tom J. de Koning, Mahmoud Abdallat, Hendriekje Eggink, Marina A.J. Tijssen & Joachim K. Krauss, 2018, I: Tremor and Other Hyperkinetic Movements. 8, s. 1-4 4 s., 530.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. 2017
  30. Non-motor symptoms and quality of life in dopa-responsive dystonia patients

    E. R. Timmers, A. Kuiper, M. Smit, A. L. Bartels, D. J. Kamphuis, N. I. Wolf, B. T. Poll-The, T. Wassenberg, E. A.J. Peeters, T. J. de Koning & M. A.J. Tijssen, 2017 dec 1, I: Parkinsonism and Related Disorders. 45, s. 57-62 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation

    Mieke Aldenhoven, Brigitte T.A. Van Den Broek, Robert F. Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A. Jones, Rossella Parini, Peter M. Van Hasselt, Marleen Renard, Victoria Bordon, Tom J. De Koning & Jaap Jan Boelens, 2017 nov 14, I: Blood Advances. 1, 24, s. 2236-2242 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. Rapid targeted genomics in critically ill newborns

    Cleo C. Van Diemen, Wilhelmina S. Kerstjens-Frederikse, Klasien A. Bergman, Tom J. De Koning, Birgit Sikkema-Raddatz, Joeri K. Van Der Velde, Kristin M. Abbott, Johanna C. Herkert, Katharina Lohner, Patrick Rump, Martine T. Meems-Veldhuis, Pieter B.T. Neerincx, Jan D.H. Jongbloed, Conny M. Van Ravenswaaij-Arts, Morris A. Swertz, Richard J. Sinke, Irene M. Van Langen & Cisca Wijmenga, 2017 okt 1, I: Pediatrics. 140, 4, e20172854.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. Amino acid synthesis deficiencies

    T. J. de Koning, 2017 jul, I: Journal of Inherited Metabolic Disease. 40, 4, s. 609-620

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  34. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

    Christian J. Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean Christophe Corvol, Tom J. de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik & 7 andra, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten & Stefan A. Kolb, 2017 maj 4, I: Current Medical Research and Opinion. 33, 5, s. 877-890 14 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. A post hoc study on gene panel analysis for the diagnosis of dystonia

    Martje E. van Egmond, Coen H.A. Lugtenberg, Oebele F. Brouwer, Maria Fiorella Contarino, Victor S.C. Fung, M. Rebecca Heiner-Fokkema, Jacobus J. van Hilten, Annemarie H. van der Hout, Kathryn J. Peall, Richard J. Sinke, Emmanuel Roze, Corien C. Verschuuren-Bemelmans, Michel A. Willemsen, Nicole I. Wolf, Marina A. Tijssen & Tom J. de Koning, 2017 apr 1, I: Movement Disorders. 32, 4, s. 569-575 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

    Esther A.R. Nibbeling, Cathérine C.S. Delnooz, Tom J. de Koning, Richard J. Sinke, Hyder A. Jinnah, Marina A.J. Tijssen & Dineke S. Verbeek, 2017 apr 1, I: Neuroscience and Biobehavioral Reviews. 75, s. 22-39

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  37. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: An observational prospective open-label study

    Martje E. Van Egmond, Amerins Weijenberg, Margreet E. Van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A.J. Tijssen, Oebele F. Brouwer & Tom J. De Koning, 2017 mar 7, I: Orphanet Journal of Rare Diseases. 12, 1, 45.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

    Roelineke J. Lunsing, Kim Strating, Tom J. de Koning & Paul E. Sijens, 2017 mar 1, I: European Radiology. 27, 3, s. 976-984 9 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. GAVIN: Gene-Aware Variant INterpretation for medical sequencing

    K. Joeri van der Velde, Eddy N. de Boer, Cleo C. van Diemen, Birgit Sikkema-Raddatz, Kristin M. Abbott, Alain Knopperts, Lude Franke, Rolf H. Sijmons, Tom J. de Koning, Cisca Wijmenga, Richard J. Sinke & Morris A. Swertz, 2017 jan 16, I: Genome Biology. 18, 1, 6.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

    Hendriekje Eggink, Martje E. van Egmond, Corien C. Verschuuren-Bemelmans, Marleen C. Schönherr, Tom J. de Koning, D. L.Marinus Oterdoom, J. Marc C. van Dijk & Marina A.J. Tijssen, 2017 jan 1, I: Movement Disorders. 32, 1, s. 162-165 4 s.

    Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

  41. 2016
  42. Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: A perinatal protocol for use before population neonatal screening test results become available

    Willemijn J. Van Rijt, Emmalie A. Jager, Francjan J. Van Spronsen, Tom De Koning, M. Rebecca Heiner-Fokkema & Terry G.J. Derks, 2016 dec 1, I: Genetics in Medicine. 18, 12, s. 1322-1323 2 s.

    Forskningsoutput: TidskriftsbidragLetter

  43. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

    L. H. Koens, A. Kuiper, M. A. Coenen, J. W.J. Elting, J. J. De Vries, M. Engelen, J. H.T.M. Koelman, F. J. Van Spronsen, J. M. Spikman, T. J. De Koning & M. A.J. Tijssen, 2016 sep 1, I: Orphanet Journal of Rare Diseases. 11, 1, 121.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  44. Neurometabolic disorders are treatable causes of dystonia

    A. Kuiper, H. Eggink, M. A.J. Tijssen & T. J. de Koning, 2016 aug 1, I: Revue Neurologique. 172, 8-9, s. 455-464 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  45. Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome

    Hendriekje Eggink, Anouk Kuiper, Cathérine C.S. Delnooz, Deborah A. Sival, Tom J. De Koning & Marina A.J. Tijssen, 2016 jul 1, I: European Journal of Paediatric Neurology. 20, 4, s. 671-673 3 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  46. Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes

    Willemijn J. Van Rijt, Geneviève D. Koolhaas, Jolita Bekhof, M. Rebecca Heiner Fokkema, Tom J. De Koning, Gepke Visser, Peter C.J.I. Schielen, Francjan J. Van Spronsen & Terry G.J. Derks, 2016 jun 1, I: Neonatology. 109, 4, s. 297-302

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  47. Serotonergic perturbations in dystonia disorders-a systematic review

    M. Smit, A. L. Bartels, M. van Faassen, A. Kuiper, K. E. Niezen-Koning, I. P. Kema, R. A. Dierckx, T. J. de Koning & M. A. Tijssen, 2016 jun 1, I: Neuroscience and Biobehavioral Reviews. 65, s. 264-275

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  48. Polyhydramnios, transient antenatal bartter's syndrome, and MAGED2 mutations

    Kamel Laghmani, Bodo B. Beck, Sung Sen Yang, Elie Seaayfan, Andrea Wenzel, Bjorn Reusch, Helga Vitzthum, Dario Priem, Sylvie Demaretz, Klasien Bergmann, Leonie K. Duin, Heike Gobel, Christoph Mache, Holger Thiele, Malte P. Bartram, Carlos Dombret, Janine Altmuller, Peter Nurnberg, Thomas Benzing, Elena Levtchenko & 13 andra, Hannsjorg W. Seyberth, Gunter Klaus, Gokhan Yigit, Shih Hua Lin, Albert Timmer, Tom J. De Koning, Sicco A. Scherjon, Karl P. Schlingmann, Mathieu J.M. Bertrand, Markus M. Rinschen, Olivier De Backer, Martin Konrad & Martin Komhoff, 2016 maj 12, I: New England Journal of Medicine. 374, 19, s. 1853-1863 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  49. Teaching Video Neuro Images: The "round the houses" sign as a clinical clue for Niemann-Pick disease type C

    Hendriekje Eggink, Rick Brandsma, Johannes H. Van Der Hoeven, Fiete Lange, Tom J. De Koning & Marina A.J. Tijssen, 2016 maj 10, I: Neurology. 86, 19, s. e202

    Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

  50. Reliability of phenotypic early-onset ataxia assessment: A pilot study

    Tjitske F. Lawerman, Rick Brandsma, Joke T. van Geffen, Roelineke J. Lunsing, Huibert Burger, Marina A.J. Tijssen, Jeroen J. de Vries, Tom J. de Koning & Deborah A. Sival, 2016 jan 1, I: Developmental Medicine and Child Neurology. 58, 1, s. 70-76 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  51. 2015
  52. Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI

    Wendy E. Heywood, Stephane Camuzeaux, Ivan Doykov, Nina Patel, Rhian Lauren Preece, Emma Footitt, Maureen Cleary, Peter Clayton, Stephanie Grunewald, Lara Abulhoul, Anupam Chakrapani, Neil J. Sebire, Peter Hindmarsh, Tom J. De Koning, Simon Heales, Derek Burke, Paul Gissen & Kevin Mills, 2015 dec 15, I: Analytical Chemistry. 87, 24, s. 12238-12244 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  53. A novel diagnostic approach to patients with myoclonus

    Rodi Zutt, Martje E. Van Egmond, Jan Willem Elting, Peter Jan Van Laar, Oebele F. Brouwer, Deborah A. Sival, Hubertus P. Kremer, Tom J. De Koning & Marina A. Tijssen, 2015 dec 1, I: Nature Reviews Neurology. 11, s. 687-697

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  54. Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma

    J. J. Luykx, S. C. Bakker, W. F. Visser, N. Verhoeven-Duif, J. E. Buizer-Voskamp, J. M. Den Heijer, M. P.M. Boks, J. H. Sul, E. Eskin, A. P. Ori, R. M. Cantor, J. Vorstman, E. Strengman, J. Deyoung, T. H. Kappen, E. Pariama, E. P.A. Van Dongen, P. Borgdorff, P. Bruins, T. J. De Koning & 2 andra, R. S. Kahn & R. A. Ophoff, 2015 dec 1, I: Molecular Psychiatry. 20, 12, s. 1557-1564 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  55. Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

    K. J. Peall, A. Kuiper, T. J. de Koning & M. A.J. Tijssen, 2015 sep, I: Parkinsonism and Related Disorders. 21, 9, s. 1031-1040

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  56. Dystonia in children and adolescents: A systematic review and a new diagnostic algorithm

    Martje E. Van Egmond, Anouk Kuiper, Hendriekje Eggink, Richard J. Sinke, Oebele F. Brouwer, Corien C. Verschuuren-Bemelmans, Deborah A. Sival, Marina A.J. Tijssen & Tom J. De Koning, 2015 jul 1, I: Journal of Neurology, Neurosurgery and Psychiatry. 86, 7, s. 774-781 8 s.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  57. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study

    Mieke Aldenhoven, Robert F. Wynn, Paul J. Orchard, Anne O'Meara, Paul Veys, Alain Fischer, Vassili Valayannopoulos, Benedicte Neven, Attilio Rovelli, Vinod K. Prasad, Jakub Tolar, Heather Allewelt, Simon A. Jones, Rossella Parini, Marleen Renard, Victoria Bordon, Nico M. Wulffraat, Tom J. De Koning, Elsa G. Shapiro, Joanne Kurtzberg & 1 andra, Jaap Jan Boelens, 2015 mar 26, I: Blood. 125, 13, s. 2164-2172 9 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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