Search Results - "May, Tiet"

WED 224 Building causality networks for inherited neuropathies by Yung, Tiet May, R, Barnes Michael

“…BackgroundInherited neuropathies are genetic conditions affecting the peripheral motor and sensory nerves. The number of causative genes are continuing to…”
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Guillain-Barré syndrome associated with COVID-19 infection: a case from the UK by Tiet, May Yung, AlShaikh, Nazar

“…Originating from Wuhan, China, COVID-19 has rapidly spread worldwide. Neurological manifestations are more commonly associated with severe COVID-19 infection…”
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Novel observation for adult ataxia-telangiectasia: evaluating the lack of hypointensity of the dentate nuclei by Tiet, May Yung, Scoffings, Daniel, Blanchard, Caroline, Dineen, Robert A, Horvath, Rita, Hensiek, Anke

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038 Cerebellar cognitive affective syndrome in ataxia-telangiectasia patients by Tiet, May Yung, Rittman, Timothy, Horvath, Rita, Hensiek, Anke

“…BackgroundCognitive function in Ataxia telangiectasia (AT) has been reported in few studies. The cer- ebellum is increasingly recognised as a pivotal structure…”
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White matter hyperintensities and brain microbleeds in ataxia-telangiectasia: the Cambridge cohort by Tiet, May Yung, Nannoni, Stefania, Horvath, Rita, Markus, Hugh S, Hensiek, Anke

“…BackgroundIsolated reports indicate the presence of MRI T2 white matter hyperintensities (WMH) and brain microbleeds (BMB) in ataxia telangiectasia (AT), but…”
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103 A novel MRI biomarker for ataxia-telangiectasia: evaluating the lack of hypoin- tensity of the dentate nuclei by Tiet, May Yung, Scoffings, Daniel, Blanchard, Caroline, Dineen, Robert, Rita, Horvath, Hensiek, Anke

“…BackgroundAtaxia-Telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. Classic AT has a characteristic neurological phenotype but variant…”
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Changes in choline metabolism as potential biomarkers of phospholipase Cγ1 inhibition in human prostate cancer cells by Beloueche-Babari, Mounia, Peak, Joanna C., Jackson, L. Elizabeth, Tiet, May-Yung, Leach, Martin O., Eccles, Suzanne A.

“…Phosphoinositide-specific phospholipase Cγ1 (PLCγ1) is activated downstream of many receptor tyrosine kinases to promote cell motility. Inhibition of this…”
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Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome' by Tiet, May Yung, Lin, Zhiyuan, Gao, Fei, Jennings, Matthew James, Horvath, Rita

“…Leigh syndrome (LS) is the most frequent paediatric clinical presentation of mitochondrial disease. The clinical phenotype of LS is highly heterogeneous…”
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Primary mitochondrial myopathies in childhood by Olimpio, Catarina, Tiet, May Yung, Horvath, Rita

“…•Mitochondrial myopathy is often part of a multisystem disorder in children.•Childhood onset mitochondrial myopathy can be isolated and, rarely,…”
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Brivaracetam and levetiracetam dose adjustments leading to behavioural adverse effects by Tiet, May Yung, George, Jithin

“…Treatment with levetiracetam was associated with a seven-fold increase in the risk of depression. 2 Nonetheless, rapid loading, easy conversion from oral to…”
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Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia by Major, Toby, Tiet, May Yung, Horvath, Rita, Hensiek, Anke E.

“…Ataxia-Telangiectasia (A-T) is an autosomal recessive neurodegenerative disease associated with cerebellar ataxia and extrapyramidal features. A-T has a…”
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MANAGEMENT OF MYASTHENIA GRAVIS COMPARED TO NATIONAL GUIDELINES by Perera, Pulukkuttiralalage Senali, Tiet, May Yung, Jacob, Saiju

“…BackgroundMyasthenia Gravis (MG) is an autoimmune disorder presenting with fatigable muscle weakness leading to potential respiratory distress. Clinical…”
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WED 237 Phosphorodiamidate morpholino oligomers for treatment of duchenne muscular dystrophy by Kate, Maresh, May, Tiet, Michela, Guglieri, Joana, Domingos, Volker, Straub, Thomas, Voit, Francesco, Muntoni

“…Exon skipping is a novel, mutation-specific approach to treating patients with Duchenne muscular dystrophy (DMD). Phosphorodiamidate morpholino oligomers are…”
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Downes, Susan M., Németh, Andrea H., Tofaris, George K., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger

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White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia by Tiet, May Yung, Nannoni, Stefania, Scoffings, Daniel, Schon, Katherine, Horvath, Rita, Markus, Hugh Stephen, Hensiek, Anke Erma

“…To systematically assess the occurrence of cerebral microbleeds (CMBs) and white matter hyperintensities (WMHs) in the largest published cohort of adults with…”
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Changes in choline metabolism as potential biomarkers of phospholipase C{gamma}1 inhibition in human prostate cancer cells by Beloueche-Babari, Mounia, Peak, Joanna C, Jackson, L Elizabeth, Tiet, May-Yung, Leach, Martin O, Eccles, Suzanne A

“…Phosphoinositide-specific phospholipase Cγ1 (PLCγ1) is activated downstream of many receptor tyrosine kinases to promote cell motility. Inhibition of this…”
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