Publications by authors named "Jolanda H Schieving"

14Publications

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 07;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.

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

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.

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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.

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

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http://doi.wiley.com/10.1002/ana.24167
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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.

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