Dr Robert Spaull
Current positions
Honorary Senior Research Associate
Bristol Medical School (THS)
Contact
Press and media
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Publications
Selected publications
02/08/2022STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy
Movement Disorders Clinical Practice
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
Movement Disorders
Exosomes populate the cerebrospinal fluid of preterm infants with post-haemorrhagic hydrocephalus
International Journal of Developmental Neuroscience
Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation
Tremor and Other Hyperkinetic Movements
Recent publications
01/01/2024Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration
Journal of Pediatric Orthopedics
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Brain
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Molecular Genetics and Metabolism
The miRNA transcriptome of cerebrospinal fluid in preterm infants reveals the signaling pathways that promote reactive gliosis following cerebral hemorrhage
Frontiers in Molecular Neuroscience
Corrigendum to
Molecular Genetics and Metabolism