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Joanne Ng
Joanne Ng
Senior Research Fellow
Verified email at ucl.ac.uk
Title
Cited by
Cited by
Year
Monoamine neurotransmitter disorders—clinical advances and future perspectives
J Ng, A Papandreou, SJ Heales, MA Kurian
Nature Reviews Neurology 11 (10), 567-584, 2015
2582015
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
2142017
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
1832014
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
1642014
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
1202016
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
1022017
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
762012
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
752016
Genomic investigations of unexplained acute hepatitis in children
S Morfopoulou, S Buddle, OE Torres Montaguth, L Atkinson, ...
Nature 617 (7961), 564-573, 2023
662023
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
662013
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
612006
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
592018
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
582016
Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders
J Ng, SJR Heales, MA Kurian
Pediatric Drugs 16, 275-291, 2014
572014
Surgical revascularisation for childhood moyamoya
J Ng, D Thompson, JPS Lumley, DE Saunders, V Ganesan
Child's Nervous System 28, 1041-1048, 2012
562012
What is new for monoamine neurotransmitter disorders?
C Marecos, J Ng, MA Kurian
Journal of inherited metabolic disease 37, 619-626, 2014
522014
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
442018
Immunomodulation in administration of rAAV: preclinical and clinical adjuvant pharmacotherapies
WS Chu, J Ng
Frontiers in Immunology 12, 658038, 2021
382021
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
302007
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
282020
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