Publications by authors named "Deborah A Sival"

53Publications

Clinical phenotypes of infantile onset CACNA1A-related disorder.

Eur J Paediatr Neurol 2020 Oct 20. Epub 2020 Oct 20.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Pediatric Movement Disorders Service, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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October 2020

Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology.

Diagnostics (Basel) 2020 Nov 24;10(12). Epub 2020 Nov 24.

Department of Genetics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.

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November 2020

Development of muscle ultrasound density in healthy fetuses and infants.

PLoS One 2020 10;15(7):e0235836. Epub 2020 Jul 10.

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

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September 2020

A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.

Parkinsonism Relat Disord 2020 03 18;72:44-48. Epub 2020 Feb 18.

Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Department of Genetics, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Pediatrics, Department of Clinical Sciences, Lund University, Sweden. Electronic address:

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March 2020

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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January 2020

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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January 2019

Motor and non-motor determinants of health-related quality of life in young dystonia patients.

Parkinsonism Relat Disord 2019 01 29;58:50-55. Epub 2018 Aug 29.

University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, The Netherlands. Electronic address:

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January 2019

Scales for the clinical evaluation of cerebellar disorders.

Handb Clin Neurol 2018 ;154:329-339

Beatrix Kinderziekenhuis, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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September 2018

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

J Clin Mov Disord 2018 6;5. Epub 2018 Apr 6.

1Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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April 2018

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

Pediatr Neurol 2018 04 21;81:57-58. Epub 2017 Dec 21.

Department of Paediatrics, Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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April 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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December 2017

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

Am J Med Genet C Semin Med Genet 2017 12 23;175(4):450-464. Epub 2017 Nov 23.

University of Groningen, University Medical Center Groningen, Center of Expertise for CHARGE syndrome, Groningen, The Netherlands.

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December 2017

Age-related reference values for the pediatric Scale for Assessment and Rating of Ataxia: a multicentre study.

Dev Med Child Neurol 2017 10 17;59(10):1077-1082. Epub 2017 Aug 17.

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

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October 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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April 2017

Riluzole in patients with hereditary cerebellar ataxia.

Lancet Neurol 2016 07;15(8):788

Pediatrics Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen 9700RB, Netherlands. Electronic address:

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July 2016

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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May 2016

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

Eur J Paediatr Neurol 2016 Jul 25;20(4):671-3. Epub 2016 Mar 25.

University of Groningen, University Medical Center Groningen, Department of Neurology, Hanzeplein 1, 9700 RB Groningen, The Netherlands. Electronic address:

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July 2016

A novel diagnostic approach to patients with myoclonus.

Nat Rev Neurol 2015 Dec 10;11(12):687-97. Epub 2015 Nov 10.

Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.

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December 2015

Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.

Ultrasound Med Biol 2016 Jan 3;42(1):133-42. Epub 2015 Oct 3.

Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands. Electronic address:

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January 2016

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

Eur J Paediatr Neurol 2015 Nov 21;19(6):726-9. Epub 2015 Jul 21.

University of Groningen, University Medical Center Groningen, Department of Pediatrics, Groningen, The Netherlands; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.

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November 2015

Cell Junction Pathology of Neural Stem Cells Is Associated With Ventricular Zone Disruption, Hydrocephalus, and Abnormal Neurogenesis.

J Neuropathol Exp Neurol 2015 Jul;74(7):653-71

From the Instituto de Anatomía, Histología y Patología (MMG, RH, AO, NL, KV, CG, MCJ, FH, SR, MJ, EMR), Instituto de Neurociencias Clínicas (EO), Instituto de Obstetricia y Ginecología (FG), Universidad Austral de Chile, Valdivia, Chile; Facultad de Recursos Naturales (AO), Escuela de Medicina Veterinaria, Universidad Católica de Temuco, Araucania, Chile; Departments of Pediatric Neurology and Pediatrics (DAS), and Pathology and Medical Biology (WFAdD), University Medical Center, University of Groningen, Groningen, The Netherlands; Departamento de Biología Celular, Facultad de Ciencias, Universidad de Málaga, Málaga, Spain (AJJ, MDD-P, JMP-F); Department of Neurosurgery, Pediatric Neurosurgery Division, University of Utah, Salt Lake City, Utah (JPMA); and Department of Neurosurgery, Alpert Medical School at Brown University, Providence, Rhode Island (CEJ).

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July 2015

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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January 2016

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

Orphanet J Rare Dis 2014 Nov 26;9:177. Epub 2014 Nov 26.

Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands.

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November 2014

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

J Neurol Neurosurg Psychiatry 2015 Jul 13;86(7):774-81. Epub 2014 Nov 13.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands University of Groningen, University Medical Center Groningen, Department of Pediatrics, Groningen, The Netherlands.

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July 2015

Visual screening of muscle ultrasound images in children.

Ultrasound Med Biol 2014 Oct 9;40(10):2345-51. Epub 2014 Jul 9.

Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address:

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October 2014

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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December 2014

Traumatic perforation of the lamina cribrosa during nasal intubation of a preterm infant.

Pediatrics 2014 Mar 17;133(3):e762-5. Epub 2014 Feb 17.

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

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March 2014

Ataxia rating scales are age-dependent in healthy children.

Dev Med Child Neurol 2014 Jun 7;56(6):556-63. Epub 2014 Jan 7.

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

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June 2014

Muscle ultrasound quantifies segmental neuromuscular outcome in pediatric myelomeningocele.

Ultrasound Med Biol 2014 Jan 7;40(1):71-7. Epub 2013 Nov 7.

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

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January 2014

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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October 2012

Long-term outcome in pyridoxine-dependent epilepsy.

Dev Med Child Neurol 2012 Sep 13;54(9):849-54. Epub 2012 Jul 13.

Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands.

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September 2012

Visual assessment of segmental muscle ultrasound images in spina bifida aperta.

Ultrasound Med Biol 2012 Aug 12;38(8):1339-44. Epub 2012 Jun 12.

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

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August 2012

Fetal endoscopic myelomeningocele closure preserves segmental neurological function.

Dev Med Child Neurol 2012 Jan 29;54(1):15-22. Epub 2011 Nov 29.

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

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January 2012

Neuroependymal denudation is in progress in full-term human foetal spina bifida aperta.

Brain Pathol 2011 Mar;21(2):163-79

Departments of Pediatrics Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

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March 2011

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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January 2011

Neonatal high pressure hydrocephalus is associated with elevation of pro-inflammatory cytokines IL-18 and IFNgamma in cerebrospinal fluid.

Cerebrospinal Fluid Res 2008 Dec 31;5:21. Epub 2008 Dec 31.

Department of Pediatrics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700RB Groningen, The Netherlands.

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December 2008

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.

Eur J Hum Genet 2008 Nov 4;16(11):1407-11. Epub 2008 Jun 4.

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

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November 2008

Pathogenesis of cerebral malformations in human fetuses with meningomyelocele.

Cerebrospinal Fluid Res 2008 Mar 1;5. Epub 2008 Mar 1.

Department of Pediatrics, University Medical Center, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.

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March 2008

The amplitude of the Achilles tendon reflex in infants is related to body position.

Early Hum Dev 2006 Nov 2;82(11):715-20. Epub 2006 May 2.

Department of Paediatrics, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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November 2006

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.

Eur J Paediatr Neurol 2006 Jan 28;10(1):11-7. Epub 2006 Feb 28.

Department of Medical Genetics, University Medical Centre Groningen, Groningen University, Box 30.001, 9700 RB Groningen, The Netherlands.

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January 2006