Roelineke J Lunsing

Roelineke J Lunsing

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Roelineke J Lunsing

Roelineke J Lunsing

Publications by authors named "Roelineke J Lunsing"

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Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.

Dev Med Child Neurol 2020 01 17;62(1):75-82. Epub 2019 Sep 17.

Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.14355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916203PMC
January 2020

Melatonin in neuropaediatric MRI: a retrospective study of efficacy in a general hospital setting.

Eur J Paediatr Neurol 2019 Oct 25. Epub 2019 Oct 25.

University of Groningen, University Medical Centre Groningen, Department of Radiology, Groningen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.10.001DOI Listing
October 2019

The neurological phenotype of developmental motor patterns during early childhood.

Brain Behav 2019 01 28;9(1):e01153. Epub 2018 Nov 28.

Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/brb3.1153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346655PMC
January 2019

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.

Eur J Paediatr Neurol 2018 May 28;22(3):536-540. Epub 2017 Nov 28.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.11.006DOI Listing
May 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia.

Front Hum Neurosci 2017 13;11:605. Epub 2017 Dec 13.

Departments of Pediatrics and Neurology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, Netherlands.

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http://dx.doi.org/10.3389/fnhum.2017.00605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733344PMC
December 2017

Reliability and discriminant validity of ataxia rating scales in early onset ataxia.

Dev Med Child Neurol 2017 04 21;59(4):427-432. Epub 2016 Oct 21.

Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.13291DOI Listing
April 2017

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

Eur Radiol 2017 Mar 7;27(3):976-984. Epub 2016 Jun 7.

Department of Radiology, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00330-016-4454-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5306328PMC
March 2017

The Burke-Fahn-Marsden Dystonia Rating Scale is Age-Dependent in Healthy Children.

Mov Disord Clin Pract 2016 Nov-Dec;3(6):580-586. Epub 2016 May 3.

Department of Pediatrics Beatrix Children's Hospital University Medical Center Groningen, University of Groningen Groningen The Netherlands.

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http://dx.doi.org/10.1002/mdc3.12339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353340PMC
May 2016

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

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

Paediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.12804DOI Listing
January 2016

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

JIMD Rep 2015 26;18:117-24. Epub 2014 Sep 26.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2014_358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361924PMC
March 2015

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

Dev Med Child Neurol 2014 Dec 18;56(12):1202-1206. Epub 2014 Jun 18.

Department of Paediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.12517DOI Listing
December 2014

Subtle bilirubin-induced neurodevelopmental dysfunction (BIND) in the term and late preterm infant: does it exist?

Semin Perinatol 2014 Nov 1;38(7):465-71. Epub 2014 Oct 1.

Department of Neurology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen 9713 GZ, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01460005140009
Publisher Site
http://dx.doi.org/10.1053/j.semperi.2014.08.009DOI Listing
November 2014

Neonatal seizures: aetiology by means of a standardized work-up.

Eur J Paediatr Neurol 2014 May 17;18(3):360-7. Epub 2014 Feb 17.

Department of Child Neurology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 EZ Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.01.014DOI Listing
May 2014

Neurodevelopment after moderate hyperbilirubinemia at term.

Pediatr Res 2013 May 13;73(5):655-60. Epub 2013 Feb 13.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1038/pr.2013.28DOI Listing
May 2013

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Pediatrics 2012 Oct 17;130(4):e1005-10. Epub 2012 Sep 17.

Division of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2011-3330DOI Listing
October 2012

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay.

Eur J Paediatr Neurol 2009 Mar 24;13(2):181-90. Epub 2008 Jun 24.

Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980800073
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http://dx.doi.org/10.1016/j.ejpn.2008.04.014DOI Listing
March 2009

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.

Hum Mutat 2009 Jan;30(1):29-38

Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.20808DOI Listing
January 2009

Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure.

Eur Radiol 2008 Nov 21;18(11):2601-9. Epub 2008 May 21.

Department of Radiology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00330-008-1049-zDOI Listing
November 2008

1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency.

J Clin Endocrinol Metab 2008 May 4;93(5):1854-9. Epub 2008 Mar 4.

Department of Radiology, University Medical Center Groningen and University of Groningen, Hanzeplein 1, Groningen, The Netherlands.

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http://dx.doi.org/10.1210/jc.2007-2441DOI Listing
May 2008