| The expanding spectrum of movement disorders in genetic epilepsies A Papandreou, FR Danti, R Spaull, V Leuzzi, A Mctague, MA Kurian Developmental Medicine & Child Neurology 62 (2), 178-191, 2020 | 49 | 2020 |
| Exosomes populate the cerebrospinal fluid of preterm infants with post-haemorrhagic hydrocephalus R Spaull, B McPherson, A Gialeli, A Clayton, J Uney, A Heep, ... International Journal of Developmental Neuroscience 73, 59-65, 2019 | 43 | 2019 |
| SLC6A3-related dopamine transporter deficiency syndrome RVV Spaull, MA Kurian | 25* | 2017 |
| RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood S Zagaglia, D Steel, S Krithika, L Hernandez-Hernandez, HM Custodio, ... Neurology 96 (11), e1539-e1550, 2021 | 22 | 2021 |
| Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation RVV Spaull, AKS Soo, P Hogarth, SJ Hayflick, MA Kurian Tremor and Other Hyperkinetic Movements 11, 2021 | 22 | 2021 |
| Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes N Himmelreich, M Bertoldi, M Alfadhel, MA Alghamdi, Y Anikster, X Bao, ... Molecular genetics and metabolism 139 (3), 107624, 2023 | 20 | 2023 |
| Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration A Papandreou, AKS Soo, R Spaull, K Mankad, MA Kurian, S Sudhakar American Journal of Neuroradiology 43 (12), 1810-1814, 2022 | 6 | 2022 |
| MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia KM Reid, R Spaull, S Salian, K Barwick, E Meyer, J Zhen, H Hirata, ... Movement Disorders 37 (10), 2139-2146, 2022 | 6 | 2022 |
| Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy R Spaull, AK Soo, S Batzios, E Footitt, R Whiteley, JW Mink, L Carr, ... Neurology 103 (3), e209615, 2024 | 3 | 2024 |
| Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders R Maroofian, R Kaiyrzhanov, E Cali, M Zamani, MS Zaki, M Ferla, ... Brain 146 (12), 5031-5043, 2023 | 3 | 2023 |
| STXBP1 stop‐loss mutation associated with complex early onset movement disorder without epilepsy R Spaull, D Steel, K Barwick, P Prabhakar, E Wakeling, MA Kurian Movement Disorders Clinical Practice, 2022 | 3 | 2022 |
| Molecular and Phenotypic Characterization of the RORB-Related Disorder Z Gokce-Samar, A Vetro, J De Bellescize, T Pisano, L Monteiro, N Penaud, ... Neurology 102 (2), e207945, 2024 | 2 | 2024 |
| The miRNA transcriptome of cerebrospinal fluid in preterm infants reveals the signaling pathways that promote reactive gliosis following cerebral hemorrhage A Gialeli, R Spaull, T Plösch, J Uney, OC Llana, A Heep Frontiers in Molecular Neuroscience 16, 1211373, 2023 | 2 | 2023 |
| Prophylactic Antiepileptic Treatment in Tuberous Sclerosis P Choudhury, R Spaull, S Amin, AA Mallick, JS Patel, F O'Callaghan, ... Pediatric neurology 110, 100-101, 2020 | 2 | 2020 |
| Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management L Behrndt, A Gregory, K Wakeman, A Freed, JL Wilson, R Spaull, ... Journal of Pediatric Orthopaedics 44 (1), e61-e68, 2024 | 1 | 2024 |
| Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology A Salazar‐Villacorta, R Spaull, S Chowdhury, B Mukhtyar, M Chitre, ... Movement Disorders Clinical Practice 11 (9), 1149, 2024 | | 2024 |
| CSF exosomal miRNAs impact on neural stem cell differentiation contributing to a premature neuro-glial switch following haemorrhage in the developing brain A Gialeli, R Spaull, T Plösch, JB Uney, OC Llana, A Heep International Society for Stem Cell Research, 2022 | | 2022 |
| MicroRNA profiling of cerebrospinal fluid from preterm infants following perinatal brain injury A Gialeli, R Spaull, T Plösch, OC Llana, A Heep Society for Neonatology and Pediatric Intensive Care Medicine, 2022 | | 2022 |
| Development of a UK phase-2 clinical trial of 4'-phosphopantetheine for pantothenate kinase associated neurodegeneration R Spaull, P Hogarth, S Hayflick, M Kurian British Paediatric Neurology Association Conference, 2022 | | 2022 |
| miRNA profiling of cerebrospinal fluid of preterm infants with intraventricular haemorrhage A Gialeli, R Spaull, T Plösch, JB Uney, OC Llana, A Heep Fetal and Neonatal Neurology Congress, 2021 | | 2021 |
Manju Ann KurianProfessor of Neurogenetics, UCL在 ucl.ac.uk 的电子邮件经过验证
