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Open Access
Peer-reviewed
Research Article
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development
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Stefano Lise ,
Contributed equally to this work with: Stefano Lise, Yvonne Clarkson, Emma Perkins
Affiliations Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom
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Yvonne Clarkson ,
Contributed equally to this work with: Stefano Lise, Yvonne Clarkson, Emma Perkins
Affiliation Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom
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Emma Perkins ,
Contributed equally to this work with: Stefano Lise, Yvonne Clarkson, Emma Perkins
Affiliation Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom
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Alexandra Kwasniewska,
Affiliations Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
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Elham Sadighi Akha,
Affiliations Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom
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Ricardo Parolin Schnekenberg,
Affiliations Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, School of Medicine, Universidade Positivo, Curitiba, Brazil
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Daumante Suminaite,
Affiliation Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom
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Jilly Hope,
Affiliation Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom
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Ian Baker,
Affiliation Russell Cairns Unit, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
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Lorna Gregory,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Angie Green,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Chris Allan,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Sarah Lamble,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Sandeep Jayawant,
Affiliation Department of Paediatrics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
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Gerardine Quaghebeur,
Affiliation Department of Neuroradiology, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
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M. Zameel Cader,
Affiliation Department of Anatomy, Physiology, and Genetics, University of Oxford, Oxford, United Kingdom
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Sarah Hughes,
Affiliation Royal Berkshire Foundation Trust Hospital, Reading, United Kingdom
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Richard J. E. Armstrong,
Affiliations Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom, Royal Berkshire Foundation Trust Hospital, Reading, United Kingdom
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Alexander Kanapin,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Andrew Rimmer,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Gerton Lunter,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Iain Mathieson,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Jean-Baptiste Cazier,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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David Buck,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Jenny C. Taylor,
Affiliations Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom
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David Bentley,
Affiliation Illumina Cambridge, Saffron Walden, United Kingdom
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Gilean McVean,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Peter Donnelly,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Samantha J. L. Knight,
Affiliations Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom
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Mandy Jackson ,
* E-mail: mandy.jackson@staffmail.ed.ac.uk (M Jackson); andrea.nemeth@eye.ox.ac.uk (AH Németh)
Affiliation Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom
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Jiannis Ragoussis,
Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Andrea H. Németh
* E-mail: mandy.jackson@staffmail.ed.ac.uk (M Jackson); andrea.nemeth@eye.ox.ac.uk (AH Németh)
Affiliations Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom, Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
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Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development
- Stefano Lise,
- Yvonne Clarkson,
- Emma Perkins,
- Alexandra Kwasniewska,
- Elham Sadighi Akha,
- Ricardo Parolin Schnekenberg,
- Daumante Suminaite,
- Jilly Hope,
- Ian Baker,
- Lorna Gregory
- Published: December 6, 2012
- https://doi.org/10.1371/journal.pgen.1003074