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Items: 1 to 50 of 126

1.

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

Weijenberg A, van Rijn M, Callenbach PMC, de Koning TJ, Brouwer OF.

Child Neurol Open. 2018 May 29;5:2329048X18779497. doi: 10.1177/2329048X18779497. eCollection 2018.

2.

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

van Egmond ME, Eggink H, Kuiper A, Sival DA, Verschuuren-Bemelmans CC, Tijssen MAJ, de Koning TJ.

J Clin Mov Disord. 2018 Apr 6;5:3. doi: 10.1186/s40734-018-0070-x. eCollection 2018.

3.

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

Hoogeveen IJ, Peeks F, de Boer F, Lubout CMA, de Koning TJ, Te Boekhorst S, Zandvoort RJ, Burghard R, van Spronsen FJ, Derks TGJ.

J Inherit Metab Dis. 2018 Mar 29. doi: 10.1007/s10545-018-0167-2. [Epub ahead of print]

PMID:
29600495
4.

Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia.

Oterdoom DLM, van Egmond ME, Ascencao LC, van Dijk JMC, Saryyeva A, Beudel M, Runge J, de Koning TJ, Abdallat M, Eggink H, Tijssen MAJ, Krauss JK.

Tremor Other Hyperkinet Mov (N Y). 2018 Feb 13;8:530. doi: 10.7916/D82F90DX. eCollection 2018.

5.

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

Sival DA, Vansenne F, Van der Hout AH, Tijssen MAJ, de Koning TJ.

Pediatr Neurol. 2018 Apr;81:57-58. doi: 10.1016/j.pediatrneurol.2017.12.009. Epub 2017 Dec 21. No abstract available.

6.

Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain.

Waalkens AJE, Vansenne F, van der Hout AH, Zutt R, Mourmans J, Tolosa E, de Koning TJ, Tijssen MAJ.

Neurol Genet. 2018 Jan 24;4(1):e214. doi: 10.1212/NXG.0000000000000214. eCollection 2018 Feb. No abstract available.

7.

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

Aldenhoven M, van den Broek BTA, Wynn RF, O'Meara A, Veys P, Rovelli A, Jones SA, Parini R, van Hasselt PM, Renard M, Bordon V, de Koning TJ, Boelens JJ.

Blood Adv. 2017 Nov 7;1(24):2236-2242. doi: 10.1182/bloodadvances.2017011387. eCollection 2017 Nov 14. Erratum in: Blood Adv. 2017 Dec 07;1(26):2535.

8.

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

Timmers ER, Kuiper A, Smit M, Bartels AL, Kamphuis DJ, Wolf NI, Poll-The BT, Wassenberg T, Peeters EAJ, de Koning TJ, Tijssen MAJ.

Parkinsonism Relat Disord. 2017 Dec;45:57-62. doi: 10.1016/j.parkreldis.2017.10.005. Epub 2017 Oct 10.

PMID:
29066160
9.

Rapid Targeted Genomics in Critically Ill Newborns.

van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C.

Pediatrics. 2017 Oct;140(4). pii: e20162854. doi: 10.1542/peds.2016-2854.

PMID:
28939701
10.

Treatable inherited rare movement disorders.

Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders.

Mov Disord. 2018 Jan;33(1):21-35. doi: 10.1002/mds.27140. Epub 2017 Sep 1. Review.

PMID:
28861905
11.

Amino acid synthesis deficiencies.

de Koning TJ.

J Inherit Metab Dis. 2017 Jul;40(4):609-620. doi: 10.1007/s10545-017-0063-1. Epub 2017 Jun 26. Review.

12.

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

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
13.

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

van Egmond ME, Weijenberg A, van Rijn ME, Elting JW, Gelauff JM, Zutt R, Sival DA, Lambrechts RA, Tijssen MA, Brouwer OF, de Koning TJ.

Orphanet J Rare Dis. 2017 Mar 7;12(1):45. doi: 10.1186/s13023-017-0595-3.

14.

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

van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ.

Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10.

PMID:
28186668
15.

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

Nibbeling EA, Delnooz CC, de Koning TJ, Sinke RJ, Jinnah HA, Tijssen MA, Verbeek DS.

Neurosci Biobehav Rev. 2017 Apr;75:22-39. doi: 10.1016/j.neubiorev.2017.01.033. Epub 2017 Jan 28. Review.

16.

GAVIN: Gene-Aware Variant INterpretation for medical sequencing.

van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA.

Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7.

17.

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

Eggink H, van Egmond ME, Verschuuren-Bemelmans CC, Schönherr MC, de Koning TJ, Oterdoom DL, van Dijk JM, Tijssen MA.

Mov Disord. 2017 Jan;32(1):162-165. doi: 10.1002/mds.26842. Epub 2016 Nov 8.

PMID:
27862284
18.

Clinical Pearls - how my patients taught me: The fainting lark symptom.

Kuiper A, van Egmond ME, Harms MP, Oosterhoff MD, van Harten B, Sival DA, de Koning TJ, Tijssen MA.

J Clin Mov Disord. 2016 Nov 2;3:16. eCollection 2016.

19.

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

Koens LH, Kuiper A, Coenen MA, Elting JW, de Vries JJ, Engelen M, Koelman JH, van Spronsen FJ, Spikman JM, de Koning TJ, Tijssen MA.

Orphanet J Rare Dis. 2016 Sep 1;11(1):121. doi: 10.1186/s13023-016-0502-3.

20.

Neurometabolic disorders are treatable causes of dystonia.

Kuiper A, Eggink H, Tijssen MA, de Koning TJ.

Rev Neurol (Paris). 2016 Aug - Sep;172(8-9):455-464. doi: 10.1016/j.neurol.2016.07.011. Epub 2016 Aug 22. Review.

PMID:
27561437
21.

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

Lunsing RJ, Strating K, de Koning TJ, Sijens PE.

Eur Radiol. 2017 Mar;27(3):976-984. doi: 10.1007/s00330-016-4454-8. Epub 2016 Jun 7.

22.

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

Eggink H, Brandsma R, van der Hoeven JH, Lange F, de Koning TJ, Tijssen MA.

Neurology. 2016 May 10;86(19):e202. doi: 10.1212/WNL.0000000000002660. No abstract available.

PMID:
27164722
23.

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.

N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.

24.

Serotonergic perturbations in dystonia disorders-a systematic review.

Smit M, Bartels AL, van Faassen M, Kuiper A, Niezen-Koning KE, Kema IP, Dierckx RA, de Koning TJ, Tijssen MA.

Neurosci Biobehav Rev. 2016 Jun;65:264-75. doi: 10.1016/j.neubiorev.2016.03.015. Epub 2016 Apr 9. Review.

PMID:
27073048
25.

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

Eggink H, Kuiper A, Delnooz CC, Sival DA, de Koning TJ, Tijssen MA.

Eur J Paediatr Neurol. 2016 Jul;20(4):671-3. doi: 10.1016/j.ejpn.2016.03.004. Epub 2016 Mar 25.

PMID:
27053142
26.

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

van Rijt WJ, Koolhaas GD, Bekhof J, Heiner Fokkema MR, de Koning TJ, Visser G, Schielen PC, van Spronsen FJ, Derks TG.

Neonatology. 2016;109(4):297-302. doi: 10.1159/000443874. Epub 2016 Feb 24. Review.

27.

A novel diagnostic approach to patients with myoclonus.

Zutt R, van Egmond ME, Elting JW, van Laar PJ, Brouwer OF, Sival DA, Kremer HP, de Koning TJ, Tijssen MA.

Nat Rev Neurol. 2015 Dec;11(12):687-97. doi: 10.1038/nrneurol.2015.198. Epub 2015 Nov 10. Review.

PMID:
26553594
28.

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.

Heywood WE, Camuzeaux S, Doykov I, Patel N, Preece RL, Footitt E, Cleary M, Clayton P, Grunewald S, Abulhoul L, Chakrapani A, Sebire NJ, Hindmarsh P, de Koning TJ, Heales S, Burke D, Gissen P, Mills K.

Anal Chem. 2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20.

PMID:
26537538
29.

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment.

van Egmond ME, Elting JW, Kuiper A, Zutt R, Heineman KR, Brouwer OF, Sival DA, Willemsen MA, Tijssen MA, de Koning TJ.

Eur J Paediatr Neurol. 2015 Nov;19(6):726-9. doi: 10.1016/j.ejpn.2015.07.003. Epub 2015 Jul 21.

PMID:
26232052
30.

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

Peall KJ, Kuiper A, de Koning TJ, Tijssen MA.

Parkinsonism Relat Disord. 2015 Sep;21(9):1031-40. doi: 10.1016/j.parkreldis.2015.07.003. Epub 2015 Jul 17. Review.

PMID:
26210889
31.

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

Lawerman TF, Brandsma R, van Geffen JT, Lunsing RJ, Burger H, Tijssen MA, de Vries JJ, de Koning TJ, Sival DA.

Dev Med Child Neurol. 2016 Jan;58(1):70-6. doi: 10.1111/dmcn.12804. Epub 2015 May 21.

32.

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group.

Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20.

33.

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

Luykx JJ, Bakker SC, Visser WF, Verhoeven-Duif N, Buizer-Voskamp JE, den Heijer JM, Boks MP, Sul JH, Eskin E, Ori AP, Cantor RM, Vorstman J, Strengman E, DeYoung J, Kappen TH, Pariama E, van Dongen EP, Borgdorff P, Bruins P, de Koning TJ, Kahn RS, Ophoff RA.

Mol Psychiatry. 2015 Dec;20(12):1557-64. doi: 10.1038/mp.2014.190. Epub 2015 Feb 10.

PMID:
25666758
34.

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

Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ.

Blood. 2015 Mar 26;125(13):2164-72. doi: 10.1182/blood-2014-11-608075. Epub 2015 Jan 26.

35.

Movement disorders in 2014. Genetic advances spark a revolution in dystonia phenotyping.

de Koning TJ, Tijssen MA.

Nat Rev Neurol. 2015 Feb;11(2):78-9. doi: 10.1038/nrneurol.2014.254. Epub 2015 Jan 6. Review.

PMID:
25561273
36.

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning.

Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, Sival DA, Tijssen MA, de Koning TJ.

Orphanet J Rare Dis. 2014 Nov 26;9:177. doi: 10.1186/s13023-014-0177-6.

37.

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

van Egmond ME, Kuiper A, Eggink H, Sinke RJ, Brouwer OF, Verschuuren-Bemelmans CC, Sival DA, Tijssen MA, de Koning TJ.

J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81. doi: 10.1136/jnnp-2014-309106. Epub 2014 Nov 13. Review.

PMID:
25395479
38.

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.

de Koning TJ, Jongbloed JD, Sikkema-Raddatz B, Sinke RJ.

Expert Rev Mol Diagn. 2015 Jan;15(1):61-70. doi: 10.1586/14737159.2015.976555. Epub 2014 Nov 4.

PMID:
25367078
39.

Assessment of speech in early-onset ataxia: a pilot study.

Kuiper MJ, Brandsma R, Lawerman TF, Lunsing RJ, Keegstra AL, Burger H, De Koning TJ, Tijssen MAJ, Sival DA.

Dev Med Child Neurol. 2014 Dec;56(12):1202-1206. doi: 10.1111/dmcn.12517. Epub 2014 Jun 18.

40.

Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

Thors VS, Vastert SJ, Wulffraat N, van Royen A, Frenkel J, de Sain-van der Velden M, de Koning TJ.

Pediatrics. 2014 Feb;133(2):e461-5. doi: 10.1542/peds.2012-1372. Epub 2014 Jan 27.

41.

Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.

van Egmond ME, Verschuuren-Bemelmans CC, Nibbeling EA, Elting JW, Sival DA, Brouwer OF, de Vries JJ, Kremer HP, Sinke RJ, Tijssen MA, de Koning TJ.

Mov Disord. 2014 Jan;29(1):139-43. doi: 10.1002/mds.25704. Epub 2013 Oct 30.

PMID:
24458321
42.

Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.

Diekman EF, de Koning TJ, Verhoeven-Duif NM, Rovers MM, van Hasselt PM.

JAMA Neurol. 2014 Feb;71(2):188-94. doi: 10.1001/jamaneurol.2013.4915. Review.

PMID:
24323041
43.

Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.

Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM.

J Pediatr. 2014 Feb;164(2):398-401. doi: 10.1016/j.jpeds.2013.10.001. Epub 2013 Nov 14.

44.

Amino acid synthesis deficiencies.

de Koning TJ.

Handb Clin Neurol. 2013;113:1775-83. doi: 10.1016/B978-0-444-59565-2.00047-2. Review.

PMID:
23622400
45.

D-amino acid aberrations in cerebrospinal fluid and plasma of smokers.

Luykx JJ, Bakker SC, van Boxmeer L, Vinkers CH, Smeenk HE, Visser WF, Verhoeven-Duif NM, Strengman E, Buizer-Voskamp JE, de Groene L, van Dongen EP, Borgdorff P, Bruins P, de Koning TJ, Kahn RS, Ophoff RA.

Neuropsychopharmacology. 2013 Sep;38(10):2019-26. doi: 10.1038/npp.2013.103. Epub 2013 Apr 24.

46.

An update on serine deficiency disorders.

van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ.

J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6.

PMID:
23463425
47.

The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

de Sain-van der Velden MG, Rinaldo P, Elvers B, Henderson M, Walter JH, Prinsen BH, Verhoeven-Duif NM, de Koning TJ, van Hasselt P.

JIMD Rep. 2012;6:95-9. doi: 10.1007/8904_2011_122. Epub 2012 Feb 24.

48.

D-serine influences synaptogenesis in a p19 cell model.

Fuchs SA, Roeleveld MW, Klomp LW, Berger R, de Koning TJ.

JIMD Rep. 2012;6:47-53. doi: 10.1007/8904_2011_116. Epub 2012 Feb 1.

49.

Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis.

Zoons E, de Koning TJ, Abeling NG, Tijssen MA.

JIMD Rep. 2012;4:99-102. doi: 10.1007/8904_2011_78. Epub 2011 Oct 20.

50.

High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase.

Heitink-Pollé KM, Prinsen BH, de Koning TJ, van Hasselt PM, Bierings MB.

JIMD Rep. 2013;7:103-8. doi: 10.1007/8904_2012_156. Epub 2012 Jul 1.

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