Publications by authors named "Deborah A Sival"

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Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.
Suus A M van Noort, Deborah A Sival, Dineke S Verbeek

Cerebellum· December 2025

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Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.
Ellen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, Annet M Bosch, Marion M Brands, Deborah A Sival

J Inherit Metab Dis· November 2025

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Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder.
Martinica Garofalo, Fleur Vansenne, Jessika F van Hoorn, Marina A J Tijssen, Dineke S Verbeek, Deborah A Sival

Dev Med Child Neurol· July 2025

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Absence of Pupillary Reflexes in Pediatric Acute Liver Failure and Neurological Outcome After Liver Transplantation.
Kirsten J Schouwstra, René Scheenstra, Ruben H de Kleine, Vincent E de Meijer, Sander T H Bontemps, Deborah A Sival

Pediatr Transplant· May 2025

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Editorial: Unraveling the complexities of DEE and movement disorders in young children.
Deborah A Sival, Suus A M van Noort

Eur J Paediatr Neurol· May 2025

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Do not Forget to Measure the Head: Hydrocephalus Can Phenotypically Mimic Developmental Coordination Disorder.
Martinica Garofalo, Jelte Helfferich, Reina W Kloet, Deborah A Sival, Kirsten R Heineman

J Child Neurol· April 2025

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Automatic two-dimensional & three-dimensional video analysis with deep learning for movement disorders: A systematic review.
Wei Tang, Peter M A van Ooijen, Deborah A Sival, Natasha M Maurits

Artif Intell Med· October 2024

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Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.
María Eugenia Amato, Alejandra Darling, Lucie Stovickova, Stephen Attard, Hendriekje Eggink, Deborah A Sival

Eur J Paediatr Neurol· September 2024

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Longitudinal semi-quantitative MRI values in CP-children under 3 years of age.
Deborah A Sival

Eur J Paediatr Neurol· July 2024

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Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders.
Martinica Garofalo, Fleur Vansenne, Deborah A Sival, Dineke S Verbeek

Brain Sci· November 2023

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Instrumented Gait Classification Using Meaningful Features in Patients with Impaired Coordination.
Zeus T Dominguez-Vega, Mariano Bernaldo de Quiros, Jan Willem J Elting, Deborah A Sival, Natasha M Maurits

Sensors (Basel)· October 2023

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Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement.
Suus A M van Noort, Sterre van der Veen, Tom J de Koning, Marina A J de Koning-Tijssen, Dineke S Verbeek, Deborah A Sival

Eur J Paediatr Neurol· July 2023

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A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.
Lisette H Koens, Marrit R Klamer, Deborah A Sival, Bettina Balint, Kailash P Bhatia

Mov Disord· April 2023

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Neurologic Outcome Comparison between Fetal Open-, Endoscopic- and Neonatal-Intervention Techniques in Spina Bifida Aperta.
Deborah A Sival, Agnieszka Patuszka, Tomasz Koszutski, Axel Heep, Renate J Verbeek

Diagnostics (Basel)· January 2023

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2D Gait Skeleton Data Normalization for Quantitative Assessment of Movement Disorders from Freehand Single Camera Video Recordings.
Wei Tang, Peter M A van Ooijen, Deborah A Sival, Natasha M Maurits

Sensors (Basel)· June 2022

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Developmental neurobiology of cerebellar and Basal Ganglia connections.
Deborah A Sival, Suus A M van Noort, Marina A J Tijssen, Tom J de Koning, Dineke S Verbeek

Eur J Paediatr Neurol· January 2022

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Applicability of quantitative oculomotor and SARA assessment in children.
Francien A Vogelaar, Rick Brandsma, Natasha M Maurits, Deborah A Sival

Eur J Paediatr Neurol· November 2021

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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Andreas Traschütz, Selina Reich, Astrid D Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Deborah A Sival

Front Neurol· June 2021

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Clinical phenotypes of infantile onset CACNA1A-related disorder.
Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, Agathe Roubertie, Ginevra Zanni, Deborah A Sival

Eur J Paediatr Neurol· January 2021

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Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology.
Deborah A Sival, Martinica Garofalo, Rick Brandsma, Tom A Bokkers, Marloes van den Berg

Diagnostics (Basel)· November 2020

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Development of muscle ultrasound density in healthy fetuses and infants.
Renate J Verbeek, Petra B Mulder, Krystyna M Sollie, Johannes H van der Hoeven, Wilfred F A den Dunnen, Deborah A Sival

PLoS One· September 2020

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ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Thabo M Yates, Morgan Drucker, Angela Barnicoat, Karen Low, Erica H Gerkes, Deborah A Sival

Hum Mutat· May 2020

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A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.
Sjoukje S Polet, David G Anderson, Lisette H Koens, Martje E van Egmond, Gea Drost, Deborah A Sival

Parkinsonism Relat Disord· March 2020

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Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.
Tjitske F Lawerman, Rick Brandsma, Natalia M Maurits, Octavio Martinez-Manzanera, Corien C Verschuuren-Bemelmans, Deborah A Sival

Dev Med Child Neurol· January 2020

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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Deborah A Sival

PLoS Genet· April 2019

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