Robert Spaull

Exosomes populate the cerebrospinal fluid of preterm infants with post‐haemorrhagic hydrocephalus

Robert Spaull, Bryony McPherson, Andriana Gialeli et al. · International Journal of Developmental Neuroscience · 2019 · 42 citations · Full text

<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

Sara Zagaglia, Dora Steel, S. Krithika et al. · Neurology · 2021 · 27 citations · Full text

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel et al. · Molecular Genetics and Metabolism · 2023 · 18 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +17

Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Calì et al. · Brain · 2023 · 16 citations · Full text

<i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Kimberley M. Reid, Robert Spaull, Smrithi Salian et al. · Movement Disorders · 2022 · 11 citations · Full text