Jolanda Schieving

Jolanda Schieving

UNVERIFIED PROFILE

Are you Jolanda Schieving?   Register this Author

Register author
Jolanda Schieving

Jolanda Schieving

Publications by authors named "Jolanda Schieving"

Are you Jolanda Schieving?   Register this Author

21Publications

922Reads

32Profile Views

Social competence in newly diagnosed pediatric brain tumor patients.

Pediatr Hematol Oncol 2019 Nov 4:1-17. Epub 2019 Nov 4.

Department of Pediatric Oncology/Hematology, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08880018.2019.1682089DOI Listing
November 2019

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 Jul;142(7):e31

Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz140DOI Listing
July 2019

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

Pediatr Neurol 2016 06 17;59:71-75.e1. Epub 2016 Mar 17.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.02.010DOI Listing
June 2016

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

Neurology 2015 Aug 22;85(7):596-603. Epub 2015 Jul 22.

From the Department of Medical Genetics (N.E.V., A.C.M.S., E.I., M.v.K., C.G.F.d.K., B.P.C.K., N.V.K., D.L., E.H.B.) and Department of Child Neurology, Brain Center Rudolf Magnus (F.E.J., K.P.B.), University Medical Center Utrecht; Centre for Infectious Disease Control (N.A.T.v.d.M., P.E.V.-d.B., J.M.K.), National Institute for Public Health and Environment-RIVM, Bilthoven; Stichting Epilepsie Instellingen Nederland (E.H., W.B.G.), Zwolle; Stichting Epilepsie Instellingen Nederland (H.H.G., P.B.A.), Heemstede; Epilepsy Center Kempenhaeghe (A.d.L.), Heeze; Department of Child Neurology (R.F.N.), Erasmus Medical Centre, Rotterdam; Department of Child Neurology (J.H.S.), Radboud Medical Centre, Nijmegen; Department of Neurology (H.S.), Canisius-Wilhelmina Hospital, Nijmegen; Department of Child Neurology (R.J.V.), VU Medical Centre, Amsterdam; Department of Child Neurology (J.N.), Maastricht University Medical Centre; and Department of Neurology (O.F.B.), University of Groningen, University Medical Centre of Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001855DOI Listing
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://clinicforspecialchildren.org/wp-content/uploads/2015
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Mutations in RARS cause hypomyelination.

Ann Neurol 2014 Jul 16;76(1):134-9. Epub 2014 May 16.

Department of Child Neurology, VU University Medical Center, Amsterdam; Neuroscience Campus Amsterdam, Amsterdam.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.24167
Publisher Site
http://dx.doi.org/10.1002/ana.24167DOI Listing
July 2014

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.

Arch Neurol 2012 Jan;69(1):125-8

Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2011.1030DOI Listing
January 2012

Malignant migrating partial seizures in a 4-month-old boy.

Epileptic Disord 2011 Jun;13(2):185-7

Department of Neurology, Reinier De Graaf Group, Delft, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2011.0424DOI Listing
June 2011