Browse by UCL people
Group by: Type | Date
Number of items: 35.
2020
Cif, L;
Demailly, D;
Lin, J-P;
Barwick, KE;
Sa, M;
Abela, L;
Malhotra, S;
... Kurian, MA; + view all
(2020)
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
, 143
(11)
pp. 3242-3261.
10.1093/brain/awaa304.
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Geva, S;
Jentschke, S;
Argyropoulos, GPD;
Chong, WK;
Gadian, DG;
Vargha-Khadem, F;
(2020)
Volume reduction of caudate nucleus is associated with movement coordination deficits in patients with hippocampal atrophy due to perinatal hypoxia-ischaemia.
NeuroImage: Clinical
, 28
, Article 102429. 10.1016/j.nicl.2020.102429.
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2019
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Krieger, TG;
Moran, CM;
Frangini, A;
Visser, WE;
Schoenmakers, E;
Muntoni, F;
Clark, CA;
... Livesey, FJ; + view all
(2019)
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.
Proceedings of the National Academy of Sciences of the United States of America
, 116
(45)
pp. 22754-22763.
10.1073/pnas.1908762116.
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Sa, M;
Green, L;
Abdel-Mannan, O;
Chong, WK;
Jacques, T;
Clarke, A;
Childs, A-M;
... Hacohen, Y; + view all
(2019)
Is chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in children the same condition as in adults?
Developmental Medicine & Child Neurology
10.1111/dmcn.13997.
(In press).
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Sa, M;
Thornton, R;
Chong, WKK;
Kaliakatsos, M;
Hacohen, Y;
(2019)
Paediatric MOG antibody-associated ADEM with complex movement disorder: A case report.
Multiple Sclerosis Journal
, 25
(1)
pp. 125-128.
10.1177/1352458518786074.
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2018
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D'Arco, F;
Alves, CA;
Raybaud, C;
Chong, WKK;
Ishak, GE;
Ramji, S;
Grima, M;
... Ganesan, V; + view all
(2018)
Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.
American Journal of Neuroradiology
, 39
(11)
pp. 2126-2131.
10.3174/ajnr.A5823.
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Hacohen, Y;
Rossor, T;
Mankad, K;
Chong, K;
Lux, A;
Wassmer, E;
Lim, M;
... Hemingway, C; + view all
(2018)
'Leukodystrophy‐like' phenotype in children with myelin oligodendrocyte glycoprotein antibody‐associated disease.
Developmental Medicine and Child Neurology
, 60
(4)
pp. 417-423.
10.1111/dmcn.13649.
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McTague, A;
Nair, U;
Malhotra, S;
Meyer, E;
Trump, N;
Gazina, EV;
Papandreou, A;
... Kurian, MA; + view all
(2018)
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology
, 90
(1)
e55-e66.
10.1212/WNL.0000000000004762.
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Northam, GB;
Adler, S;
Eschmann, KCJ;
Chong, WK;
Cowan, FM;
Baldeweg, T;
(2018)
Developmental conduction aphasia after neonatal stroke.
Annals of Neurology
, 83
(4)
pp. 664-675.
10.1002/ana.25218.
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Pujar, SS;
Martinos, MM;
Cortina-Borja, M;
Chong, WKK;
De Haan, M;
Gillberg, C;
Neville, BG;
... Chin, RF; + view all
(2018)
Long-term prognosis after childhood convulsive status epilepticus: a prospective cohort study.
The Lancet Child and Adolescent Health
, 2
(2)
pp. 103-111.
10.1016/S2352-4642(17)30174-8.
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Sa, M;
Hacohen, Y;
Alderson, L;
Chong, WKK;
Anderson, G;
Jacques, TS;
Neubauer, D;
... Kaliakatsos, M; + view all
(2018)
Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation.
European Journal of Paediatric Neurology
, 22
(5)
pp. 882-888.
10.1016/j.ejpn.2018.04.010.
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2017
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Baruteau, J;
Jameson, E;
Morris, AA;
Chakrapani, A;
Santra, S;
Vijay, S;
Kocadag, H;
... Davison, JE; + view all
(2017)
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 357-368.
10.1007/s10545-017-0022-x.
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Dzieciol, AM;
Bachevalier, J;
Saleem, KS;
Gadian, DG;
Saunders, R;
Chong, WK;
Banks, T;
... Vargha-Khadem, F; + view all
(2017)
Hippocampal and diencephalic pathology in developmental amnesia.
Cortex
, 86
pp. 33-44.
10.1016/j.cortex.2016.09.016.
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Hikmat, O;
Tzoulis, C;
Chong, WK;
Chentouf, L;
Klingenberg, C;
Fratter, C;
Carr, LJ;
... Rahman, S; + view all
(2017)
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genetics in Medicine
, 19
(11)
pp. 1217-1225.
10.1038/gim.2017.35.
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Kinsler, VA;
O'Hare, P;
Bulstrode, N;
Calonje, JE;
Chong, WK;
Hargrave, D;
Jacques, T;
... Slater, O; + view all
(2017)
Melanoma in congenital melanocytic naevi.
British Journal of Dermatology
, 176
(5)
pp. 1131-1143.
10.1111/bjd.15301.
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Meyer, E;
Carss, KJ;
Rankin, J;
Nichols, JM;
Grozeva, D;
Joseph, AP;
Mencacci, NE;
... Kurian, MA; + view all
(2017)
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature Genetics
, 49
(2)
pp. 223-237.
10.1038/ng.3740.
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Morfopoulou, S;
Mee, ET;
Connaughton, SM;
Brown, JR;
Gilmour, K;
Chong, WK;
Duprex, WP;
... Breuer, J; + view all
(2017)
Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis.
Acta Neuropathologica
, 133
(1)
pp. 139-147.
10.1007/s00401-016-1629-y.
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Ngoh, A;
Bras, J;
Guerreiro, R;
McTague, A;
Ng, J;
Meyer, E;
Chong, WK;
... Kurian, MA; + view all
(2017)
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Tremor and other Hyperkinetic Movements
, 7
10.7916/D8Q52VBV.
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Ware, N;
Sebire, NJ;
Chong, WK;
Krishnan, R;
Marks, SD;
(2017)
When is biopsy-proven TIN not simply TIN? Answers.
Pediatric Nephrology
, 32
(6)
pp. 977-979.
10.1007/s00467-016-3478-2.
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Ware, N;
Sebire, NJ;
Chong, WK;
Krishnan, R;
Marks, SD;
(2017)
When is biopsy-proven TIN not simply TIN? Questions.
Pediatric Nephrology
, 32
(6)
pp. 975-976.
10.1007/s00467-016-3465-7.
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2016
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Khan, MA;
Shaw, L;
Eleftheriou, D;
Prabhakar, P;
Chong, WK;
Glover, M;
(2016)
Radiologic Improvement After Early Medical Intervention in Localised Facial Morphea.
Pediatric Dermatology
, 33
(2)
e95-e98.
10.1111/pde.12799.
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Kinsler, VA;
Polubothu, S;
Calonje, JE;
Chong, WK;
Thompson, D;
Jacques, TS;
Morrogh, D;
(2016)
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma.
Acta Neuropathologica
, 133
(2)
pp. 329-331.
10.1007/s00401-016-1651-0.
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Mills, PB;
Darin, N;
Reid, E;
Prunetti, L;
Samuelsson, L;
Husain, RA;
Wilson, M;
... Clayton, PT; + view all
(2016)
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy.
American Journal of Human Genetics
, 99
(6)
pp. 1325-1337.
10.1016/j.ajhg.2016.10.011.
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Morfopoulou, S;
Brown, JR;
Davies, EG;
Anderson, G;
Virasami, A;
Qasim, W;
Chong, WK;
... Breuer, J; + view all
(2016)
Human Coronavirus OC43 Associated with Fatal Encephalitis.
[Letter].
New England Journal of Medicine
, 375
(5)
497-+.
10.1056/NEJMc1509458.
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Polubothu, S;
Al-Olabi, L;
Wilson, L;
Chong, WK;
Kinsler, VA;
(2016)
Extending the spectrum of AKT1 mosaicism - not just the Proteus syndrome.
British Journal of Dermatology
, 175
(3)
pp. 612-614.
10.1111/bjd.14478.
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Thomas, AC;
Zeng, Z;
Rivière, JB;
O'Shaughnessy, R;
Al-Olabi, L;
St-Onge, J;
Atherton, DJ;
... Kinsler, VA; + view all
(2016)
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Journal of Investigative Dermatology
, 136
(4)
pp. 770-778.
10.1016/j.jid.2015.11.027.
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Tuschl, K;
Meyer, E;
Valdivia, LE;
Zhao, N;
Dadswell, C;
Abdul-Sada, A;
Hung, CY;
... Wilson, SW; + view all
(2016)
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Nature Communications
, 7
, Article 11601. 10.1038/ncomms11601.
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Wedatilake, Y;
Niazi, R;
Fassone, E;
Powell, CA;
Pearce, S;
Plagnol, V;
Saldanha, JW;
... Rahman, S; + view all
(2016)
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Orphanet Journal of Rare Diseases
, 11
(90)
pp. 1-14.
10.1186/s13023-016-0477-0.
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2015
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Clark, CA;
Fosi, T;
Chu, C;
Chong, W;
Scott, R;
Boyd, S;
Neville, B;
(2015)
Quantitative MRI evidence for altered structural remodelling of the temporal lobe in cryptogenic West syndrome.
Epilsepsia
, 56
(4)
pp. 608-616.
10.1111/epi.12907.
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Cooper, JM;
Gadian, DG;
Jentschke, S;
Goldman, A;
Munoz, M;
Pitts, G;
Banks, T;
... Vargha-Khadem, F; + view all
(2015)
Neonatal Hypoxia, Hippocampal Atrophy, and Memory Impairment: Evidence of a Causal Sequence.
Cereb Cortex
, 25
(6)
pp. 1469-1476.
10.1093/cercor/bht332.
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Waelchli, R;
Aylett, SE;
Atherton, D;
Thompson, DJ;
Chong, WK;
Kinsler, VA;
(2015)
Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome.
British Journal of Dermatology
, 173
(3)
pp. 739-750.
10.1111/bjd.13898.
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2014
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Illingworth, MA;
Carr, LJ;
Kurian, MA;
Meyer, E;
Chong, WK;
Manzur, AY;
Younis, R;
... Hayflick, SJ; + view all
(2014)
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
Molecular Genetics and Metabolism
, 112
(2)
183 - 189.
10.1016/j.ymgme.2014.03.008.
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Mills, PB;
Camuzeaux, SS;
Footitt, EJ;
Mills, KA;
Gissen, P;
Fisher, L;
Das, KB;
... Clayton, PT; + view all
(2014)
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain
, 137
(5)
pp. 1350-1360.
10.1093/brain/awu051.
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2013
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Martinos, MM;
Yoong, M;
Patil, S;
Chong, WK;
Mardari, R;
Chin, RF;
Neville, BG;
... Scott, RC; + view all
(2013)
Early developmental outcomes in children following convulsive status epilepticus: a longitudinal study.
Epilepsia
, 54
(6)
1012 - 1019.
10.1111/epi.12136.
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2012
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Northam, GB;
Liégeois, F;
Chong, WK;
Baker, K;
Tournier, JD;
Wyatt, JS;
Baldeweg, T;
(2012)
Speech and oromotor outcome in adolescents born preterm: relationship to motor tract integrity.
The Journal of Pediatrics
, 160
(3)
402 - 408.e1.
10.1016/j.jpeds.2011.08.055.
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