Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

Acknowledgements: We thank the participants and their families for their essential help with this work. We thank Dr Paul Lockhart for a kind gift of amplicons with FGF14 (GAA)n expansions in the pathological range. We also thank the Interdisciplinary Center for Biotechnology Research (ICBR) at University of Florida for contributing to long-read completion. Tissue samples and associated clinical and neuropathological data were supplied by the Queen Square Brain Bank, IBB-NeuroBiobank, CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III, the Multiple Sclerosis Society Tissue Bank (funded by the Multiple Sclerosis Society of Great Britain and Northern Ireland, registered charity 207495). We also thank Dr Gilbert Bensimon, Dr Christine Payan, Professor Ammar Al-Chalabi and the NNIPPS Consortium for access to the NNIPPS data. We also thank PROSPECT-M UK study for access to samples and data from clinically diagnosed MSA patients.

Publication Details

Journal
White Rose Research Online (University of Leeds, The University of Sheffield, University of York)
Published
2024-11-20
Citations
1
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
1.11

Funders

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article

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

1 citations
White Rose Research Online (University of Leeds, The University of Sheffield, University of York)
Prenatal Screening and Diagnostics
1.11
article

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

article en
1 citations

Abstract

Acknowledgements: We thank the participants and their families for their essential help with this work. We thank Dr Paul Lockhart for a kind gift of amplicons with FGF14 (GAA)n expansions in the pathological range. We also thank the Interdisciplinary Center for Biotechnology Research (ICBR) at University of Florida for contributing to long-read completion. Tissue samples and associated clinical and neuropathological data were supplied by the Queen Square Brain Bank, IBB-NeuroBiobank, CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III, the Multiple Sclerosis Society Tissue Bank (funded by the Multiple Sclerosis Society of Great Britain and Northern Ireland, registered charity 207495). We also thank Dr Gilbert Bensimon, Dr Christine Payan, Professor Ammar Al-Chalabi and the NNIPPS Consortium for access to the NNIPPS data. We also thank PROSPECT-M UK study for access to samples and data from clinically diagnosed MSA patients.

White Rose Research Online (University of Leeds, The University of Sheffield, University of York)
Michael J. Fox Foundation for Parkinson's Research, Multiple System Atrophy Coalition, National Institute for Health and Care Research, Department of Health and Social Care, Ataxia UK, Multiple Sclerosis Society, Guarantors of Brain, University College London, Rosetrees Trust, Deutsche Forschungsgemeinschaft, Else Kröner-Fresenius-Stiftung, Koning Boudewijnstichting, European Academy of Neurology, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, National Institutes of Health, Canadian Institutes of Health Research, Medical Research Council, Instituto de Salud Carlos III, International Centre for Bamboo and Rattan, NIHR Cambridge Biomedical Research Centre
Openalex Percentile: Top 14%
Prenatal Screening and Diagnostics
1.11
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