Robert V. Spaull
Bristol, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 19 publications
Transdermal clonidine patch use in the management of childhood hypertonia: a cross-sectional UK-wide service evaluation.
Journal: Archives of disease in childhood
Published: September 13, 2025
Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing.
Journal: Case reports in pediatrics
Published: March 08, 2025
Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 16, 2024
Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.
Journal: Movement disorders clinical practice
Published: March 06, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Journal: Neurology
Published: January 02, 2024
Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.
Journal: Journal of pediatric orthopedics
Published: October 23, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Journal: Molecular genetics and metabolism
Published: July 15, 2023
The miRNA transcriptome of cerebrospinal fluid in preterm infants reveals the signaling pathways that promote reactive gliosis following cerebral hemorrhage.
Journal: Frontiers in molecular neuroscience
Published: April 24, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Journal: Molecular genetics and metabolism
Published: March 14, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Journal: Brain : a journal of neurology
Published: January 27, 2023
Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration.
Journal: AJNR. American journal of neuroradiology
Published: August 03, 2022
Last Updated: 09/26/2026