Steroid‐responsive aseptic meningitis with raised intracranial pressure syndrome associated with myelin oligodendrocyte glycoprotein autoantibodies
Wong, Wui‐Kwan, Troedson, Christopher, Peacock, Ken, Brilot‐Turville, Fabienne, Menezes, Manoj P, Dale, Russell C, Webster, Richard
Published in Journal of paediatrics and child health (01.12.2022)
Published in Journal of paediatrics and child health (01.12.2022)
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Journal Article
BCAS3‐Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation
Wong, Wui‐Kwan, Troedson, Christopher, Damme, Markus, Goetti, Robert, Temple, Suzanna E.L., Schöls, Ludger, Balousha, Ghassan, Prelog, Kristina, Buckley, Michael, Roscioli, Tony, Hengel, Holger, Mohammad, Shekeeb S.
Published in Movement disorders (01.04.2022)
Published in Movement disorders (01.04.2022)
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Journal Article
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
Wong, Wui‐Kwan, Balasubramaniam, Shanti, Wong, Rachel S. H., Graf, Nicole, Thorburn, David R., McFarland, Robert, Troedson, Christopher
Published in JIMD reports (01.11.2022)
Published in JIMD reports (01.11.2022)
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Journal Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2
Wong, Wui‐Kwan, Troedson, Christopher, Dale, Russell C., Roscioli, Tony, Field, Michael, Palmer, Elizabeth, Martin, Ellenore M., Kumar, Kishore R., Mohammad, Shekeeb S.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.09.2022)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.09.2022)
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Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
Bryen, Samantha J., Yuen, Michaela, Joshi, Himanshu, Dawes, Ruebena, Zhang, Katharine, Lu, Jessica K., Jones, Kristi J., Liang, Christina, Wong, Wui-Kwan, Peduto, Anthony J., Waddell, Leigh B., Evesson, Frances J., Cooper, Sandra T.
Published in HGG advances (13.10.2022)
Published in HGG advances (13.10.2022)
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Journal Article
Unusual Manifestations of APECED
Bosi, Isabelle, Wong, Wui-Kwan, Mohammad, Shekeeb, Britton, Philip, Hsu, Peter
Published in Journal of clinical immunology (01.01.2024)
Published in Journal of clinical immunology (01.01.2024)
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Journal Article
Rapid onset functional tic‐like behaviours in children and adolescents during COVID‐19: Clinical features, assessment and biopsychosocial treatment approach
Han, Velda X, Kozlowska, Kasia, Kothur, Kavitha, Lorentzos, Michelle, Wong, Wui Kwan, Mohammad, Shekeeb S, Savage, Blanche, Chudleigh, Catherine, Dale, Russell C
Published in Journal of paediatrics and child health (01.07.2022)
Published in Journal of paediatrics and child health (01.07.2022)
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Journal Article
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
Wong, Wui-Kwan, Bryen, Samantha J, Bournazos, Adam, Yasa, Joe, Lemckert, Frances, Bommireddipall, Shobhana, Waddell, Leigh B, Menezes, Manoj P, Webster, Richard, Davis, Mark, Liang, Christina, Cooper, Sandra T, Jones, Kristi J
Published in Neuromuscular disorders : NMD (01.09.2022)
Published in Neuromuscular disorders : NMD (01.09.2022)
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Journal Article
RNA variant assessment using transactivation and transdifferentiation
Nicolas-Martinez, Emmylou C., Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark A., Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare L., Scheffer, Ingrid E., Hildebrand, Michael S., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Cooper, Sandra T., Lister, Ryan, Gecz, Jozef, Jolly, Lachlan A.
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
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Journal Article
Unusual Manifestations of APECED
Bosi, Isabelle, Wong, Wui-Kwan, Mohammad, Shekeeb, Britton, Philip, Hsu, Peter
Published in Journal of clinical immunology (27.12.2023)
Published in Journal of clinical immunology (27.12.2023)
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Steroid-responsive aseptic meningitis with raised intracranial pressure syndrome associated with myelin oligodendrocyte glycoprotein autoantibodies
Wong, Wui-Kwan, Troedson, Christopher, Peacock, Ken, Brilot-Turville, Fabienne, Menezes, Manoj P, Dale, Russell C, Webster, Richard
Published in Journal of paediatrics and child health (01.12.2022)
Published in Journal of paediatrics and child health (01.12.2022)
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Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2
Wong, Wui-Kwan, Troedson, Christopher, Dale, Russell C, Roscioli, Tony, Field, Michael, Palmer, Elizabeth, Martin, Ellenore M, Kumar, Kishore R, Mohammad, Shekeeb S
Published in Movement disorders clinical practice (01.09.2022)
Published in Movement disorders clinical practice (01.09.2022)
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