Search Results - "Ging, Heather"

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner by Nethisinghe, Suran, Kesavan, Maheswaran, Ging, Heather, Labrum, Robyn, Polke, James M., Islam, Saiful, Garcia-Moreno, Hector, Callaghan, Martina F., Cavalcanti, Francesca, Pook, Mark A., Giunti, Paola

“…Friedreich’s ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA…”
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Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare by Al-Mahdawi, Sahar, Ging, Heather, Bayot, Aurelien, Cavalcanti, Francesca, La Cognata, Valentina, Cavallaro, Sebastiano, Giunti, Paola, Pook, Mark A

“…Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the…”
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Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C by Motamed-Gorji, Nazgol, Khalil, Youssef, Gonzalez-Robles, Cristina, Khan, Shamsher, Mills, Philippa, Garcia-Moreno, Hector, Ging, Heather, Tariq, Ambreen, Clayton, Peter T, Giunti, Paola

“…Ataxia is a common neurological feature of Niemann-Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central…”
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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 by Nethisinghe, Suran, Lim, Wei N, Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G, Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P, Bhatia, Kailash P, Wood, Nicholas W, Hardy, John, Polke, James M, Veneziano, Liana, Brusco, Alfredo, Davis, Mary B, Giunti, Paola

“…Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein…”
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PolyQ length-dependent metabolic alterations and DNA damage drive human astrocyte dysfunction in Huntington’s disease by Lange, Jenny, Gillham, Olivia, Flower, Michael, Ging, Heather, Eaton, Simon, Kapadia, Sneha, Neueder, Andreas, Duchen, Michael R., Ferretti, Patrizia, Tabrizi, Sarah J.

“…Huntington’s Disease (HD) is a neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the Huntingtin gene. Astrocyte dysfunction is known to…”
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Investigating the Role of Modifiers in Trinucleotide Repeat Diseases by Ging, Heather

“…Friedreich’s Ataxia (FRDA) and Huntington’s disease (HD) are trinucleotide repeat diseases, resulting from homozygous expanded GAA and heterozygous expanded…”
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A01 Determining the CAG repeat mosaic in post-mortem human HD brains by Ging, Heather, Nethisinghe, Suran, Chatzi, Afroditi, Ciosi, Marc, Monckton, Darren G, Giunti, Paola

“…BackgroundHuntington’s Disease (HD) is fully penetrant when ≥40 CAG repeats are present in the Huntingtin gene. CAG repeat length is inconsistent both between…”
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