Adrian Waite

Adrian Waite

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Adrian Waite

Adrian Waite

Publications by authors named "Adrian Waite"

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24Publications

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A novel mutation in a family with diverse frontotemporal dementia spectrum disorders.

Cold Spring Harb Mol Case Stud 2019 Jun 3;5(3). Epub 2019 Jun 3.

Department of Clinical and Movement Neurosciences, Dementia Research Centre, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1101/mcs.a003913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549548PMC
June 2019

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.

Schizophr Bull 2018 08;44(5):1100-1110

Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, UK.

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https://academic.oup.com/schizophreniabulletin/article/44/5/
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http://dx.doi.org/10.1093/schbul/sbx164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101561PMC
August 2018

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.

Neurobiol Dis 2017 Feb 24;98:52-65. Epub 2016 Nov 24.

Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA; Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, TN 38163, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283163PMC
February 2017

Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.

Mov Disord 2016 11 18;31(11):1694-1703. Epub 2016 Aug 18.

Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.

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http://dx.doi.org/10.1002/mds.26738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129563PMC
November 2016

Huntingtin Exists as Multiple Splice Forms in Human Brain.

J Huntingtons Dis 2015 ;4(2):161-71

Institute of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, Hadyn Ellis Building, Cardiff University, UK.

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http://dx.doi.org/10.3233/JHD-150151DOI Listing
June 2016

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

J Neurol 2014 Dec 11;261(12):2296-304. Epub 2014 Sep 11.

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK,

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http://dx.doi.org/10.1007/s00415-014-7488-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495322PMC
December 2014

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.

Neurobiol Aging 2014 Jul 17;35(7):1779.e5-1779.e13. Epub 2014 Jan 17.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cathays, Cardiff, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988882PMC
July 2014

Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation.

PLoS One 2013 23;8(8):e73169. Epub 2013 Aug 23.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073169PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751932PMC
June 2014

Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.

Hum Mutat 2012 Dec 27;33(12):1676-86. Epub 2012 Jul 27.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1002/humu.22160DOI Listing
December 2012

The dystrophin-glycoprotein complex in brain development and disease.

Trends Neurosci 2012 Aug 23;35(8):487-96. Epub 2012 May 23.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01662236120005
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http://dx.doi.org/10.1016/j.tins.2012.04.004DOI Listing
August 2012

Recent advances in the genetics of the ALS-FTLD complex.

Curr Neurol Neurosci Rep 2012 Jun;12(3):243-50

MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1007/s11910-012-0268-5DOI Listing
June 2012

A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.

Hum Mutat 2011 Nov 15;32(11):1246-58. Epub 2011 Sep 15.

Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1002/humu.21561DOI Listing
November 2011

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.

Mov Disord 2011 Aug 28;26(10):1939-42. Epub 2011 Jun 28.

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom.

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http://dx.doi.org/10.1002/mds.23791DOI Listing
August 2011

The neurobiology of the dystrophin-associated glycoprotein complex.

Ann Med 2009 ;41(5):344-59

Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1080/07853890802668522DOI Listing
June 2009