Monoamine neurotransmitter disorders—clinical advances and future perspectives J Ng, A Papandreou, SJ Heales, MA Kurian Nature Reviews Neurology 11 (10), 567-584, 2015 | 260 | 2015 |
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ... Nature genetics 49 (2), 223-237, 2017 | 215 | 2017 |
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 AR Foley, MP Menezes, A Pandraud, MA Gonzalez, A Al-Odaib, ... Brain 137 (1), 44-56, 2014 | 186 | 2014 |
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood J Ng, J Zhen, E Meyer, K Erreger, Y Li, N Kakar, J Ahmad, H Thiele, ... Brain 137 (4), 1107-1119, 2014 | 166 | 2014 |
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions NE Mencacci, EJ Kamsteeg, K Nakashima, L R’Bibo, DS Lynch, B Balint, ... The American Journal of Human Genetics 98 (4), 763-771, 2016 | 124 | 2016 |
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome FR Danti, S Galosi, M Romani, M Montomoli, KJ Carss, FL Raymond, ... Neurology: Genetics 3 (2), e143, 2017 | 105 | 2017 |
Genomic investigations of unexplained acute hepatitis in children S Morfopoulou, S Buddle, OE Torres Montaguth, L Atkinson, ... Nature 617 (7961), 564-573, 2023 | 100 | 2023 |
Successful treatment of two paediatric cases of anti-NMDA receptor encephalitis with cyclophosphamide: the need for early aggressive immunotherapy in tumour negative paediatric … P Kashyape, E Taylor, J Ng, D Krishnakumar, F Kirkham, A Whitney european journal of paediatric neurology 16 (1), 74-78, 2012 | 77 | 2012 |
Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy CP Diggle, SJS Rizzo, M Popiolek, R Hinttala, JP Schülke, MA Kurian, ... The American Journal of Human Genetics 98 (4), 735-743, 2016 | 75 | 2016 |
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations G Burke, A Hiscock, A Klein, EH Niks, M Main, AY Manzur, J Ng, C de Vile, ... Neuromuscular disorders 23 (2), 170-175, 2013 | 72 | 2013 |
Diagnostic difficulties in the management of H-type tracheoesophageal fistula J Ng, B Antao, J Bartram, A Raghavan, R Shawis Acta Radiologica 47 (8), 801-805, 2006 | 62 | 2006 |
Ascending vaginal infection using bioluminescent bacteria evokes intrauterine inflammation, preterm birth, and neonatal brain injury in pregnant mice N Suff, R Karda, JA Diaz, J Ng, J Baruteau, D Perocheau, M Tangney, ... The American journal of pathology 188 (10), 2164-2176, 2018 | 60 | 2018 |
Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders J Ng, SJR Heales, MA Kurian Pediatric Drugs 16, 275-291, 2014 | 60 | 2014 |
Delineation of the movement disorders associated with FOXG1 mutations A Papandreou, RB Schneider, EF Augustine, J Ng, K Mankad, E Meyer, ... Neurology 86 (19), 1794-1800, 2016 | 59 | 2016 |
Surgical revascularisation for childhood moyamoya J Ng, D Thompson, JPS Lumley, DE Saunders, V Ganesan Child's Nervous System 28, 1041-1048, 2012 | 58 | 2012 |
What is new for monoamine neurotransmitter disorders? C Marecos, J Ng, MA Kurian Journal of inherited metabolic disease 37, 619-626, 2014 | 52 | 2014 |
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer J Baruteau, DP Perocheau, J Hanley, M Lorvellec, E Rocha-Ferreira, ... Nature Communications 9 (1), 3505, 2018 | 46 | 2018 |
Immunomodulation in administration of rAAV: preclinical and clinical adjuvant pharmacotherapies WS Chu, J Ng Frontiers in immunology 12, 658038, 2021 | 42 | 2021 |
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia J Ng, E Cortès‐Saladelafont, L Abela, P Termsarasab, K Mankad, ... Movement Disorders 35 (8), 1357-1368, 2020 | 31 | 2020 |
Skull base osteomyelitis leading to lateral medullary syndrome in a child J Ng, DJA Connolly, CD Rittey, SR Mordekar European Journal of Paediatric Neurology 11 (2), 111-114, 2007 | 30 | 2007 |