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Authors: Daniah Trabzuni
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Journal Article

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci

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Marc P M Soutar and others
Brain, Volume 145, Issue 12, December 2022, Pages 4349–4367, https://doi.org/10.1093/brain/awac325
Published: 08 September 2022
Journal Article

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

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Leslie E Sanderson and others
Brain, Volume 144, Issue 3, March 2021, Pages 769–780, https://doi.org/10.1093/brain/awaa459
Published: 25 March 2021
Journal Article

Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy

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Sebastian Guelfi and others
Brain, Volume 142, Issue 6, June 2019, Pages 1616–1630, https://doi.org/10.1093/brain/awz074
Published: 01 April 2019
Journal Article

Analysis of gene expression data using a linear mixed model/finite mixture model approach: application to regional differences in the human brain

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Daniah Trabzuni and others
Bioinformatics, Volume 30, Issue 11, June 2014, Pages 1555–1561, https://doi.org/10.1093/bioinformatics/btu088
Published: 11 February 2014
Journal Article

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

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Dalia Kasperavičiūtė and others
Brain, Volume 136, Issue 10, October 2013, Pages 3140–3150, https://doi.org/10.1093/brain/awt233
Published: 06 September 2013
Journal Article

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

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Adaikalavan Ramasamy and others
Nucleic Acids Research, Volume 41, Issue 7, 1 April 2013, Page e88, https://doi.org/10.1093/nar/gkt069
Published: 21 February 2013
Journal Article

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease Get access

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Peter Holmans and others
Human Molecular Genetics, Volume 22, Issue 5, 1 March 2013, Pages 1039–1049, https://doi.org/10.1093/hmg/dds492
Published: 07 December 2012
Journal Article

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

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Daniah Trabzuni and others
Human Molecular Genetics, Volume 21, Issue 18, 15 September 2012, Pages 4094–4103, https://doi.org/10.1093/hmg/dds238
Published: 20 June 2012
Journal Article

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues Get access

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Sahar Al-Mahdawi and others
Human Molecular Genetics, Volume 17, Issue 5, 1 March 2008, Pages 735–746, https://doi.org/10.1093/hmg/ddm346
Published: 27 November 2007