Kathryn J Peall

Kathryn J Peall

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Kathryn J Peall

Kathryn J Peall

Publications by authors named "Kathryn J Peall"

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A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia.

Authors:
Lliwen A Jones Waqaar Baber Mark Wardle Neil P Robertson Huw R Morris Alistair Church John G Llewelyn Kathryn J Peall

Tremor Other Hyperkinet Mov (N Y) 2019 1;9. Epub 2019 Oct 1.

Neuroscience and Mental Health Research Institute, Hadyn Ellis Building, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.7916/tohm.v0.677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778423PMC
October 2019

Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion syndrome.

Authors:
Adam C Cunningham Liam Hill Mark Mon-Williams Kathryn J Peall David E J Linden Jeremy Hall Michael J Owen Marianne B M van den Bree

J Neurodev Disord 2019 Jun 10;11(1). Epub 2019 Jun 10.

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

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http://dx.doi.org/10.1186/s11689-019-9271-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558818PMC
June 2019

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

Authors:
Martje E van Egmond Maria Fiorella Contarino Coen H A Lugtenberg Kathryn J Peall Oebele F Brouwer Victor S C Fung Emmanuel Roze Roy E Stewart Michel A Willemsen Nicole I Wolf Tom J de Koning Marina A Tijssen

Mov Disord 2019 03 6;34(3):317-320. Epub 2019 Feb 6.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.

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http://dx.doi.org/10.1002/mds.27627DOI Listing
March 2019

Motor and non-motor determinants of health-related quality of life in young dystonia patients.

Authors:
Hendriekje Eggink Maraike A Coenen Ronald de Jong Rivka F Toonen Melanie H Eissens Wencke S Veenstra Kathryn J Peall Deborah A Sival Agnes Elema Marina Aj Tijssen

Parkinsonism Relat Disord 2019 01 29;58:50-55. Epub 2018 Aug 29.

University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.08.008DOI Listing
January 2019

Dentatorubral-pallidoluysian Atrophy: An Update.

Authors:
Liam S Carroll Thomas H Massey Mark Wardle Kathryn J Peall

Tremor Other Hyperkinet Mov (N Y) 2018 1;8:577. Epub 2018 Oct 1.

Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK.

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http://www.tremorjournal.org/index.php/tremor/article/view/5
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http://dx.doi.org/10.7916/D81N9HSTDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222020PMC
December 2018

Repurposed drugs for use in Parkinson's disease.

Authors:
Matthew D Smith Kathryn J Peall

J Neurol 2018 03;265(3):728-730

Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1007/s00415-018-8772-4DOI Listing
March 2018

Electrophysiologic testing aids diagnosis and subtyping of myoclonus.

Authors:
Rodi Zutt Jan W Elting Jonathan C van Zijl J Han van der Hoeven Christiaan M Roosendaal Jeannette M Gelauff Kathryn J Peall Marina A J Tijssen

Neurology 2018 02 19;90(8):e647-e657. Epub 2018 Jan 19.

From the Department of Neurology (R.Z., J.W.E., J.C.v.Z., J.H.v.d.H., C.M.R., J.M.G., M.A.J.T.), University Medical Center Groningen, University of Groningen, the Netherlands; and Neuroscience and Mental Health Research Institute (K.J.P.), Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, UK.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818165PMC
February 2018

Low CSF 5-HIAA in Myoclonus Dystonia.

Authors:
Kathryn J Peall Joanne Ng Marisela E Dy Nutan Sharma Simon Pope Simon Heales Jennifer R Friedman Manju A Kurian

Mov Disord 2017 11 26;32(11):1647-1649. Epub 2017 Sep 26.

Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.27117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796435PMC
November 2017

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Authors:
Esther Meyer Keren J Carss Julia Rankin John M E Nichols Detelina Grozeva Agnel P Joseph Niccolo E Mencacci Apostolos Papandreou Joanne Ng Serena Barral Adeline Ngoh Hilla Ben-Pazi Michel A Willemsen David Arkadir Angela Barnicoat Hagai Bergman Sanjay Bhate Amber Boys Niklas Darin Nicola Foulds Nicholas Gutowski Alison Hills Henry Houlden Jane A Hurst Zvi Israel Margaret Kaminska Patricia Limousin Daniel Lumsden Shane McKee Shibalik Misra Shekeeb S Mohammed Vasiliki Nakou Joost Nicolai Magnus Nilsson Hardev Pall Kathryn J Peall Gregory B Peters Prab Prabhakar Miriam S Reuter Patrick Rump Reeval Segel Margje Sinnema Martin Smith Peter Turnpenny Susan M White Dagmar Wieczorek Sarah Wiethoff Brian T Wilson Gidon Winter Christopher Wragg Simon Pope Simon J H Heales Deborah Morrogh Alan Pittman Lucinda J Carr Belen Perez-Dueñas Jean-Pierre Lin Andre Reis William A Gahl Camilo Toro Kailash P Bhatia Nicholas W Wood Erik-Jan Kamsteeg Wui K Chong Paul Gissen Maya Topf Russell C Dale Jonathan R Chubb F Lucy Raymond Manju A Kurian

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969bDOI Listing
May 2017

The long-term neuropsychological features of basal ganglia encephalitis.

Authors:
Kathryn J Peall

Dev Med Child Neurol 2017 04 13;59(4):353-354. Epub 2017 Jan 13.

MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1111/dmcn.13382DOI Listing
April 2017

A post hoc study on gene panel analysis for the diagnosis of dystonia.

Authors:
Martje E van Egmond Coen H A Lugtenberg Oebele F Brouwer Maria Fiorella Contarino Victor S C Fung M Rebecca Heiner-Fokkema Jacobus J van Hilten Annemarie H van der Hout Kathryn J Peall Richard J Sinke Emmanuel Roze Corien C Verschuuren-Bemelmans Michel A Willemsen Nicole I Wolf Marina A Tijssen Tom J de Koning

Mov Disord 2017 04 10;32(4):569-575. Epub 2017 Feb 10.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.

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http://dx.doi.org/10.1002/mds.26937DOI Listing
April 2017

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Authors:
Esther Meyer Keren J Carss Julia Rankin John M E Nichols Detelina Grozeva Agnel P Joseph Niccolo E Mencacci Apostolos Papandreou Joanne Ng Serena Barral Adeline Ngoh Hilla Ben-Pazi Michel A Willemsen David Arkadir Angela Barnicoat Hagai Bergman Sanjay Bhate Amber Boys Niklas Darin Nicola Foulds Nicholas Gutowski Alison Hills Henry Houlden Jane A Hurst Zvi Israel Margaret Kaminska Patricia Limousin Daniel Lumsden Shane McKee Shibalik Misra Shekeeb S Mohammed Vasiliki Nakou Joost Nicolai Magnus Nilsson Hardev Pall Kathryn J Peall Gregory B Peters Prab Prabhakar Miriam S Reuter Patrick Rump Reeval Segel Margje Sinnema Martin Smith Peter Turnpenny Susan M White Dagmar Wieczorek Sarah Wiethoff Brian T Wilson Gidon Winter Christopher Wragg Simon Pope Simon J H Heales Deborah Morrogh Alan Pittman Lucinda J Carr Belen Perez-Dueñas Jean-Pierre Lin Andre Reis William A Gahl Camilo Toro Kailash P Bhatia Nicholas W Wood Erik-Jan Kamsteeg Wui K Chong Paul Gissen Maya Topf Russell C Dale Jonathan R Chubb F Lucy Raymond Manju A Kurian

Nat Genet 2017 Feb 19;49(2):223-237. Epub 2016 Dec 19.

Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ng.3740DOI Listing
February 2017

The Burke-Fahn-Marsden Dystonia Rating Scale is Age-Dependent in Healthy Children.

Authors:
Marieke Johanna Kuiper Loïs Vrijenhoek Rick Brandsma Roelineke J Lunsing Huibert Burger Hendriekje Eggink Kathryn J Peall Maria Fiorella Contarino Johannes D Speelman Marina A J Tijssen Deborah A Sival

Mov Disord Clin Pract 2016 Nov-Dec;3(6):580-586. Epub 2016 May 3.

Department of Pediatrics Beatrix Children's Hospital University Medical Center Groningen, University of Groningen Groningen The Netherlands.

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http://dx.doi.org/10.1002/mdc3.12339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353340PMC
May 2016

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.

Authors:
Rodi Zutt Joke M Dijk Kathryn J Peall Hans Speelman Yasmine E M Dreissen Maria Fiorella Contarino Marina A J Tijssen

Front Neurol 2016 13;7:72. Epub 2016 May 13.

Department of Neurology, University Medical Center Groningen , Groningen , Netherlands.

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http://dx.doi.org/10.3389/fneur.2016.00072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4865489PMC
May 2016

Nitrous oxide misuse and vitamin B12 deficiency.

Authors:
Thomas H Massey Trevor T Pickersgill Kathryn J Peall

BMJ Case Rep 2016 May 31;2016. Epub 2016 May 31.

Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1136/bcr-2016-215728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4904416PMC
May 2016

Psychiatric disorders, myoclonus dystonia and SGCE: an international study.

Authors:
Kathryn J Peall Joke M Dijk Rachel Saunders-Pullman Yasmine E M Dreissen Ilke van Loon Danielle Cath Manju A Kurian Michael J Owen Elisabeth M J Foncke Huw R Morris Thomas Gasser Susan Bressman Friedrich Asmus Marina A J Tijssen

Ann Clin Transl Neurol 2016 01 20;3(1):4-11. Epub 2015 Nov 20.

Department of Neurology University Medical Center Groningen Groningen The Netherlands.

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http://dx.doi.org/10.1002/acn3.263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704478PMC
January 2016

Benign Hereditary Chorea: An Update.

Authors:
Kathryn J Peall Manju A Kurian

Tremor Other Hyperkinet Mov (N Y) 2015 14;5:314. Epub 2015 Jul 14.

Developmental Neurosciences Programme, UCL-Institute of Child Health, London, UK ; Department of Neurology, Great Ormond Street Hospital, London, UK.

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https://academiccommons.columbia.edu/download/fedora_content
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http://www.tremorjournal.org/index.php/tremor/article/view/3
Publisher Site
http://dx.doi.org/10.7916/D8RJ4HM5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502401PMC
July 2015

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

Authors:
Kathryn J Peall Manju A Kurian Mark Wardle Adrian J Waite Tammy Hedderly Jean-Pierre Lin Martin Smith Alan Whone Hardev Pall Cathy White Andrew Lux Philip E Jardine Bryan Lynch George Kirov Sean O'Riordan Michael Samuel Timothy Lynch Mary D King Patrick F Chinnery Thomas T Warner Derek J Blake Michael J Owen Huw R Morris

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

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning.

Authors:
Hendriekje Eggink Anouk Kuiper Kathryn J Peall Maria Fiorella Contarino Annet M Bosch Bart Post Deborah A Sival Marina A J Tijssen Tom J de Koning

Orphanet J Rare Dis 2014 Nov 26;9:177. Epub 2014 Nov 26.

Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-014-01
Publisher Site
http://dx.doi.org/10.1186/s13023-014-0177-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254263PMC
November 2014

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.

Authors:
Kathryn J Peall Daniel Lumsden Rachel Kneen Rajesh Madhu Deirdre Peake Frances Gibbon Hilary Lewis Tammy Hedderly Esther Meyer Stephanie A Robb Bryan Lynch Mary D King Jean-Pierre Lin Huw R Morris Heinz Jungbluth Manju A Kurian

Dev Med Child Neurol 2014 Jul 31;56(7):642-8. Epub 2013 Oct 31.

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

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http://dx.doi.org/10.1111/dmcn.12323DOI Listing
July 2014

SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

Authors:
Kathryn J Peall Daniel J Smith Manju A Kurian Mark Wardle Adrian J Waite Tammy Hedderly Jean-Pierre Lin Martin Smith Alan Whone Hardev Pall Cathy White Andrew Lux Philip Jardine Narinder Bajaj Bryan Lynch George Kirov Sean O'Riordan Michael Samuel Timothy Lynch Mary D King Patrick F Chinnery Thomas T Warner Derek J Blake Michael J Owen Huw R Morris

Brain 2013 Jan;136(Pt 1):294-303

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Henry Wellcome Building, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1093/brain/aws308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4052887PMC
January 2013

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

Authors:
Kathryn J Peall Adrian J Waite Derek J Blake Mike J Owen Huw R Morris

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