Publications by authors named "Eleanor Self"

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Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Viorica Chelban, David Pellerin, Nirosen Vijiaratnam, Hamin Lee, Yen Yee Goh, Eleanor Self

Brain· September 2025

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Identification of a Novel GRM1 Frameshift Variant in Two Pakistani Families Broadens the Genetic Landscape of Ultra-Rare Spinocerebellar Ataxia Type 13.
Riaz Ahmad, Mina Zamani, Eleanor Self, Salah Ud Din Shah, Muhammad Naeem

Cerebellum· August 2025

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Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.
Saif Haddad, Christopher J Record, Eleanor Self, Mariola Skorupinska, Alexander M Rossor

Eur J Neurol· February 2025

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Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Rauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Eleanor Self

Mov Disord· June 2024

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Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Eleanor Self

Mov Disord· March 2024

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The impact of the cytoplasmic ubiquitin ligase TNFAIP3 gene variation on transcription factor NF-κB activation in acute kidney injury.
Natasha M Rogers, Nathan Zammit, Danny Nguyen-Ngo, Yassine Souilmi, Nikita Minhas, Eleanor Self

Kidney Int· June 2023

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A zebrafish functional genomics model to investigate the role of human A20 variants in vivo.
Daniele Cultrone, Nathan W Zammit, Eleanor Self, Benno Postert, Jeremy Z R Han

Sci Rep· November 2020

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