Publications by authors named "Jolanda Schieving"

21Publications

Social competence in newly diagnosed pediatric brain tumor patients.

Authors:
Tessa B Kok Janneke Koerts Jurgen Lemiere Wendy J Post Eveline S J M de Bont Corrie Gidding Franscesca Happé Sandra Jacobs Kim Oostrom Jolanda Schieving Oliver Tucha Annette Kingma

Pediatr Hematol Oncol 2020 Feb 4;37(1):41-57. Epub 2019 Nov 4.

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

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http://dx.doi.org/10.1080/08880018.2019.1682089DOI Listing
February 2020

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.

Authors:
Maartje Pennings Meyke I Schouten Judith van Gaalen Rowdy P P Meijer Susanne T de Bot Marjolein Kriek Christiaan G J Saris Leonard H van den Berg Michael A van Es Dick M H Zuidgeest Mariet W Elting Jiddeke M van de Kamp Karin Y van Spaendonck-Zwarts Christine de Die-Smulders Eva H Brilstra Corien C Verschuuren Bert B A de Vries Jacques Bruijn Kalliopi Sofou Floor A Duijkers B Jaeger Jolanda H Schieving Bart P van de Warrenburg Erik-Jan Kamsteeg

Eur J Hum Genet 2020 01 5;28(1):40-49. Epub 2019 Sep 5.

Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41431-019-0497-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906463PMC
January 2020

De novo SPAST mutations may cause a complex SPG4 phenotype.

Authors:
Jolanda H Schieving Susanne T de Bot Laura A van de Pol Nicole I Wolf Eva H Brilstra Suzanna G Frints Judith van Gaalen Mala Misra-Isrie Maartje Pennings Corien C Verschuuren-Bemelmans Erik-Jan Kamsteeg Bart P van de Warrenburg Michèl A Willemsen

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

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Authors:
Sara Reynhout Sandra Jansen Dorien Haesen Siska van Belle Sonja A de Munnik Ernie M H F Bongers Jolanda H Schieving Carlo Marcelis Jeanne Amiel Marlène Rio Heather Mclaughlin Roger Ladda Susan Sell Marjolein Kriek Cacha M P C D Peeters-Scholte Paulien A Terhal Koen L van Gassen Nienke Verbeek Sonja Henry Jessica Scott Schwoerer Saleem Malik Nicole Revencu Carlos R Ferreira Ellen Macnamara Hilde M H Braakman Elise Brimble Maura R Z Ruzhnikov Matias Wagner Philip Harrer Dagmar Wieczorek Alma Kuechler Barak Tziperman Ortal Barel Bert B A de Vries Christopher T Gordon Veerle Janssens Lisenka E L M Vissers

Am J Hum Genet 2019 Feb;104(2):357

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http://dx.doi.org/10.1016/j.ajhg.2019.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369538PMC
February 2019

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Authors:
Sara Reynhout Sandra Jansen Dorien Haesen Siska van Belle Sonja A de Munnik Ernie M H F Bongers Jolanda H Schieving Carlo Marcelis Jeanne Amiel Marlène Rio Heather Mclaughlin Roger Ladda Susan Sell Marjolein Kriek Cacha M P C D Peeters-Scholte Paulien A Terhal Koen L van Gassen Nienke Verbeek Sonja Henry Jessica Scott Schwoerer Saleem Malik Nicole Revencu Carlos R Ferreira Ellen Macnamara Hilde M H Braakman Elise Brimble Maura R Z Ruzhnikov Matias Wagner Philip Harrer Dagmar Wieczorek Alma Kuechler Barak Tziperman Ortal Barel Bert B A de Vries Christopher T Gordon Veerle Janssens Lisenka E L M Vissers

Am J Hum Genet 2019 01 27;104(1):139-156. Epub 2018 Dec 27.

Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323609PMC
January 2019

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

Authors:
Hanyin Cheng Avinash V Dharmadhikari Sylvia Varland Ning Ma Deepti Domingo Robert Kleyner Alan F Rope Margaret Yoon Asbjørg Stray-Pedersen Jennifer E Posey Sarah R Crews Mohammad K Eldomery Zeynep Coban Akdemir Andrea M Lewis Vernon R Sutton Jill A Rosenfeld Erin Conboy Katherine Agre Fan Xia Magdalena Walkiewicz Mauro Longoni Frances A High Marjon A van Slegtenhorst Grazia M S Mancini Candice R Finnila Arie van Haeringen Nicolette den Hollander Claudia Ruivenkamp Sakkubai Naidu Sonal Mahida Elizabeth E Palmer Lucinda Murray Derek Lim Parul Jayakar Michael J Parker Stefania Giusto Emanuela Stracuzzi Corrado Romano Jennifer S Beighley Raphael A Bernier Sébastien Küry Mathilde Nizon Mark A Corbett Marie Shaw Alison Gardner Christopher Barnett Ruth Armstrong Karin S Kassahn Anke Van Dijck Geert Vandeweyer Tjitske Kleefstra Jolanda Schieving Marjolijn J Jongmans Bert B A de Vries Rolph Pfundt Bronwyn Kerr Samantha K Rojas Kym M Boycott Richard Person Rebecca Willaert Evan E Eichler R Frank Kooy Yaping Yang Joseph C Wu James R Lupski Thomas Arnesen Gregory M Cooper Wendy K Chung Jozef Gecz Holly A F Stessman Linyan Meng Gholson J Lyon

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:

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

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Authors:
Davor Lessel Claudia Schob Sébastien Küry Margot R F Reijnders Tamar Harel Mohammad K Eldomery Zeynep Coban-Akdemir Jonas Denecke Shimon Edvardson Estelle Colin Alexander P A Stegmann Erica H Gerkes Marine Tessarech Dominique Bonneau Magalie Barth Thomas Besnard Benjamin Cogné Anya Revah-Politi Tim M Strom Jill A Rosenfeld Yaping Yang Jennifer E Posey LaDonna Immken Nelly Oundjian Katherine L Helbig Naomi Meeks Kelsey Zegar Jenny Morton The Ddd Study Jolanda H Schieving Ana Claasen Matthew Huentelman Vinodh Narayanan Keri Ramsey Han G Brunner Orly Elpeleg Sandra Mercier Stéphane Bézieau Christian Kubisch Tjitske Kleefstra Stefan Kindler James R Lupski Hans-Jürgen Kreienkamp

Am J Hum Genet 2018 01;102(1):196

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http://dx.doi.org/10.1016/j.ajhg.2017.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777981PMC
January 2018

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Authors:
Davor Lessel Claudia Schob Sébastien Küry Margot R F Reijnders Tamar Harel Mohammad K Eldomery Zeynep Coban-Akdemir Jonas Denecke Shimon Edvardson Estelle Colin Alexander P A Stegmann Erica H Gerkes Marine Tessarech Dominique Bonneau Magalie Barth Thomas Besnard Benjamin Cogné Anya Revah-Politi Tim M Strom Jill A Rosenfeld Yaping Yang Jennifer E Posey LaDonna Immken Nelly Oundjian Katherine L Helbig Naomi Meeks Kelsey Zegar Jenny Morton Jolanda H Schieving Ana Claasen Matthew Huentelman Vinodh Narayanan Keri Ramsey Han G Brunner Orly Elpeleg Sandra Mercier Stéphane Bézieau Christian Kubisch Tjitske Kleefstra Stefan Kindler James R Lupski Hans-Jürgen Kreienkamp

Am J Hum Genet 2017 Nov;101(5):716-724

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673606PMC
November 2017

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Authors:
Margot R F Reijnders Robert Janowski Mohsan Alvi Jay E Self Ton J van Essen Maaike Vreeburg Rob P W Rouhl Servi J C Stevens Alexander P A Stegmann Jolanda Schieving Rolph Pfundt Katinke van Dijk Eric Smeets Connie T R M Stumpel Levinus A Bok Jan Maarten Cobben Marc Engelen Sahar Mansour Margo Whiteford Kate E Chandler Sofia Douzgou Nicola S Cooper Ene-Choo Tan Roger Foo Angeline H M Lai Julia Rankin Andrew Green Tuula Lönnqvist Pirjo Isohanni Shelley Williams Ilene Ruhoy Karen S Carvalho James J Dowling Dorit L Lev Katalin Sterbova Petra Lassuthova Jana Neupauerová Jeff L Waugh Sotirios Keros Jill Clayton-Smith Sarah F Smithson Han G Brunner Ceciel van Hoeckel Mel Anderson Virginia E Clowes Victoria Mok Siu The Ddd Study Paulo Selber Richard J Leventer Christoffer Nellaker Dierk Niessing David Hunt Diana Baralle

J Med Genet 2018 02 2;55(2):104-113. Epub 2017 Nov 2.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-104946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800346PMC
February 2018

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Authors:
Lisenka E L M Vissers Kirsten J M van Nimwegen Jolanda H Schieving Erik-Jan Kamsteeg Tjitske Kleefstra Helger G Yntema Rolph Pfundt Gert Jan van der Wilt Lotte Krabbenborg Han G Brunner Simone van der Burg Janneke Grutters Joris A Veltman Michèl A A P Willemsen

Genet Med 2017 09 23;19(9):1055-1063. Epub 2017 Mar 23.

Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/gim.2017.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589982PMC
September 2017

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Authors:
Josefine S Witteveen Marjolein H Willemsen Thaís C D Dombroski Nick H M van Bakel Willy M Nillesen Josephus A van Hulten Eric J R Jansen Dave Verkaik Hermine E Veenstra-Knol Conny M A van Ravenswaaij-Arts Jolien S Klein Wassink-Ruiter Marie Vincent Albert David Cedric Le Caignec Jolanda Schieving Christian Gilissen Nicola Foulds Patrick Rump Tim Strom Kirsten Cremer Alexander M Zink Hartmut Engels Sonja A de Munnik Jasper E Visser Han G Brunner Gerard J M Martens Rolph Pfundt Tjitske Kleefstra Sharon M Kolk

Nat Genet 2016 08 11;48(8):877-87. Epub 2016 Jul 11.

Department of Molecular Animal Physiology, Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1038/ng.3619DOI Listing
August 2016

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

Authors:
Roderick P P W M Maas Jolanda H Schieving Meyke Schouten Erik-Jan Kamsteeg Bart P C van de Warrenburg

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

Acute toxicity profile of craniospinal irradiation with intensity-modulated radiation therapy in children with medulloblastoma: A prospective analysis.

Authors:
Maurice C Cox Johannes M Kusters Corrie E Gidding Jolanda H Schieving Erik J van Lindert Johannes H Kaanders Geert O Janssens

Radiat Oncol 2015 Nov 24;10:241. Epub 2015 Nov 24.

Department of Radiation Oncology, University Medical Center Utrecht and Princess Maxima Center for Pediatric Oncology, Utrecht, 3584, CX, The Netherlands.

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http://link.springer.com/content/pdf/10.1186%2Fs13014-015-05
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http://www.ro-journal.com/content/10/1/241
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http://dx.doi.org/10.1186/s13014-015-0547-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657242PMC
November 2015

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

Authors:
Lot Snijders Blok Erik Madsen Jane Juusola Christian Gilissen Diana Baralle Margot R F Reijnders Hanka Venselaar Céline Helsmoortel Megan T Cho Alexander Hoischen Lisenka E L M Vissers Tom S Koemans Willemijn Wissink-Lindhout Evan E Eichler Corrado Romano Hilde Van Esch Connie Stumpel Maaike Vreeburg Eric Smeets Karin Oberndorff Bregje W M van Bon Marie Shaw Jozef Gecz Eric Haan Melanie Bienek Corinna Jensen Bart L Loeys Anke Van Dijck A Micheil Innes Hilary Racher Sascha Vermeer Nataliya Di Donato Andreas Rump Katrina Tatton-Brown Michael J Parker Alex Henderson Sally A Lynch Alan Fryer Alison Ross Pradeep Vasudevan Usha Kini Ruth Newbury-Ecob Kate Chandler Alison Male Sybe Dijkstra Jolanda Schieving Jacques Giltay Koen L I van Gassen Janneke Schuurs-Hoeijmakers Perciliz L Tan Igor Pediaditakis Stefan A Haas Kyle Retterer Patrick Reed Kristin G Monaghan Eden Haverfield Marvin Natowicz Angela Myers Michael C Kruer Quinn Stein Kevin A Strauss Karlla W Brigatti Katherine Keating Barbara K Burton Katherine H Kim Joel Charrow Jennifer Norman Audrey Foster-Barber Antonie D Kline Amy Kimball Elaine Zackai Margaret Harr Joyce Fox Julie McLaughlin Kristin Lindstrom Katrina M Haude Kees van Roozendaal Han Brunner Wendy K Chung R Frank Kooy Rolph Pfundt Vera Kalscheuer Sarju G Mehta Nicholas Katsanis Tjitske Kleefstra

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:

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

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

Authors:
Nienke E Verbeek Nicoline A T van der Maas Anja C M Sonsma Elly Ippel Patricia E Vermeer-de Bondt Eveline Hagebeuk Floor E Jansen Huibert H Geesink Kees P Braun Anton de Louw Paul B Augustijn Rinze F Neuteboom Jolanda H Schieving Hans Stroink R Jeroen Vermeulen Joost Nicolai Oebele F Brouwer Marjan van Kempen Carolien G F de Kovel Jeanet M Kemmeren Bobby P C Koeleman Nine V Knoers Dick Lindhout W Boudewijn Gunning Eva H Brilstra

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

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Authors:
Sietske H Kevelam Jennifer R Taube Rosalina M L van Spaendonk Enrico Bertini Karen Sperle Mark Tarnopolsky Davide Tonduti Enza Maria Valente Lorena Travaglini Erik A Sistermans Geneviève Bernard Coriene E Catsman-Berrevoets Clara D M van Karnebeek John R Østergaard Richard L Friederich Mahmoud Fawzi Elsaid Jolanda H Schieving Maja Tarailo-Graovac Simona Orcesi Marjan E Steenweg Carola G M van Berkel Quinten Waisfisz Truus E M Abbink Marjo S van der Knaap Grace M Hobson Nicole I Wolf

Ann Clin Transl Neurol 2015 Jun 1;2(6):648-61. Epub 2015 May 1.

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

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http://dx.doi.org/10.1002/acn3.203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479525PMC
June 2015

Mutations in RARS cause hypomyelination.

Authors:
Nicole I Wolf Gajja S Salomons Richard J Rodenburg Petra J W Pouwels Jolanda H Schieving Terry G J Derks Johanna M Fock Patrick Rump Daphne M van Beek Marjo S van der Knaap Quinten Waisfisz

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

Primary melanoma of the CNS in children is driven by congenital expression of oncogenic NRAS in melanocytes.

Authors:
Malin Pedersen Heidi V N Küsters-Vandevelde Amaya Viros Patricia J T A Groenen Berta Sanchez-Laorden Jacobus H Gilhuis Ilse A van Engen-van Grunsven Willy Renier Jolanda Schieving Ion Niculescu-Duvaz Caroline J Springer Benno Küsters Pieter Wesseling Willeke A M Blokx Richard Marais

Cancer Discov 2013 Apr 9;3(4):458-469. Epub 2013 Jan 9.

Signal Transduction Team, The Institute of Cancer Research, London, SW3 6JB, UK.

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http://cancerdiscovery.aacrjournals.org/lookup/doi/10.1158/2
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http://dx.doi.org/10.1158/2159-8290.CD-12-0464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999382PMC
April 2013

Hypofractionation vs conventional radiation therapy for newly diagnosed diffuse intrinsic pontine glioma: a matched-cohort analysis.

Authors:
Geert O Janssens Marc H Jansen Selmer J Lauwers Peter J Nowak Foppe R Oldenburger Eric Bouffet Frank Saran Karin Kamphuis-van Ulzen Erik J van Lindert Jolanda H Schieving Tom Boterberg Gertjan J Kaspers Paul N Span Johannes H Kaanders Corrie E Gidding Darren Hargrave

Int J Radiat Oncol Biol Phys 2013 Feb 9;85(2):315-20. Epub 2012 Jun 9.

Department of Radiation Oncology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ijrobp.2012.04.006DOI Listing
February 2013

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.

Authors:
Marjan E Steenweg Nicole I Wolf Jolanda H Schieving Mahmoud Fawzi Elsaid Richard L Friederich John R Ostergaard Frederik Barkhof Petra J W Pouwels Marjo S van der Knaap

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

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

Authors:
H Jacobus Gilhuis Jolanda Schieving Machiel J Zwarts

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

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

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