Publications by authors named "Andrea H Németh"

46Publications

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Ophthalmic Genet 2020 Aug 16;41(4):331-337. Epub 2020 Jun 16.

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust , Oxford, UK.

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http://dx.doi.org/10.1080/13816810.2020.1778736DOI Listing
August 2020

Clinical application of next-generation sequencing to the practice of neurology.

Lancet Neurol 2019 05;18(5):492-503

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Clinical Neurogenomics Research Center, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S14744422193003
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http://dx.doi.org/10.1016/S1474-4422(19)30033-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055532PMC
May 2019

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation.

Acta Neuropathol Commun 2018 09 24;6(1):99. Epub 2018 Sep 24.

Department of Physiology, Anatomy and Genetics, University of Oxford, Sherrington Road, Oxford, OX1 3PT, UK.

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http://dx.doi.org/10.1186/s40478-018-0600-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151931PMC
September 2018

Recessive ataxias.

Handb Clin Neurol 2018 ;155:73-89

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00005-6DOI Listing
October 2018

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Am J Hum Genet 2017 Sep;101(3):451-458

Nuffield Department of Clinical Neurosciences, University of Oxford, 6th Floor West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591020PMC
September 2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Am J Hum Genet 2017 Jan 23;100(1):138-150. Epub 2016 Dec 23.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223060PMC
January 2017

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Neuromuscul Disord 2016 10 17;26(10):702-705. Epub 2016 Aug 17.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066368PMC
October 2016

Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa.

Mov Disord Clin Pract 2017 Mar-Apr;4(2):249-253. Epub 2016 Jun 16.

Division of Human Genetics School of Pathology Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.

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http://dx.doi.org/10.1002/mdc3.12372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353414PMC
June 2016

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology 2016 May 9;123(5):1143-50. Epub 2016 Feb 9.

Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845717PMC
May 2016

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.3304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601524PMC
July 2015

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Brain 2015 Jul 16;138(Pt 7):1817-32. Epub 2015 May 16.

4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK 16 Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 7LJ, UK

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http://dx.doi.org/10.1093/brain/awv117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572487PMC
July 2015

Insights into gait disorders: walking variability using phase plot analysis, Huntington's disease.

Gait Posture 2014 Sep 10;40(4):694-700. Epub 2014 Aug 10.

Movement Science Group, Oxford Brookes University, Oxford, UK; School of Healthcare Studies, Cardiff University, Cardiff, UK; Department of Clinical Neurology, University of Oxford,Oxford, UK. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2014.08.001DOI Listing
September 2014

H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene.

Pediatr Infect Dis J 2015 Mar;34(3):318-20

From the *Department of Paediatric Neurology; †Paediatric Infectious Disease and Immunology, John Radcliffe Hospital; ‡Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust; §Department of Clinical Neurosciences, University of Oxford; ¶Department of Neuropathology; ‖Department of Neuroradiology, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxfordshire, United Kingdom; and **Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

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http://dx.doi.org/10.1097/INF.0000000000000533DOI Listing
March 2015

Task-specific training in Huntington disease: a randomized controlled feasibility trial.

Phys Ther 2014 Nov 10;94(11):1555-68. Epub 2014 Jul 10.

M. Busse, PhD, MSc(Med), BSc(Med)Hons, MCSP, BSc(Physiotherapy), School of Healthcare Sciences, Cardiff University, Ty Dewi Sant, Heath Park, Cardiff, CF14 4XN United Kingdom.

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http://dx.doi.org/10.2522/ptj.20140123DOI Listing
November 2014

Infantile neuroaxonal dystrophy caused by uniparental disomy.

Dev Med Child Neurol 2014 Apr 15;56(4):386-9. Epub 2013 Nov 15.

Department of Clinical Genetics, Leicester Royal Infirmary, University Hospitals Leicester, UK; Department of Cancer Studies & Molecular Medicine, University of Leicester, Leicester, UK; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.

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http://dx.doi.org/10.1111/dmcn.12327DOI Listing
April 2014

Next-generation sequencing in childhood disorders.

Arch Dis Child 2014 Mar 29;99(3):284-90. Epub 2013 Oct 29.

Wellcome Trust Centre for Human Genetics, University of Oxford, , Oxford, UK.

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http://dx.doi.org/10.1136/archdischild-2012-302881DOI Listing
March 2014

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Genet Med 2012 Nov 12;14(11):891-9. Epub 2012 Jul 12.

Nuffield Department of Clinical Neuroscience, Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, University of Oxford, UK.

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http://dx.doi.org/10.1038/gim.2012.73DOI Listing
November 2012

Statistical characteristics of finger-tapping data in Huntington's disease.

Med Biol Eng Comput 2012 Apr 19;50(4):341-6. Epub 2012 Jan 19.

Division of Clinical Neurology, Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK.

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http://dx.doi.org/10.1007/s11517-012-0863-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314821PMC
April 2012

Catastrophic visual loss in a patient with Friedreich ataxia.

Arch Ophthalmol 2007 Feb;125(2):273-4

Department of Clinical Genetics, Churchill Hospital, Churchill Drive, Oxford, England.

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http://dx.doi.org/10.1001/archopht.125.2.273DOI Listing
February 2007

Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome).

Ophthalmic Genet 2005 Dec;26(4):181-3

Specialist Registrar, Oxford Eye Hospital, Woodstock Road, Oxford, OX2 6HE, United Kingdom.

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http://dx.doi.org/10.1080/13816810500374433DOI Listing
December 2005

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein.

J Neurol 2004 Jul;251(7):805-12

Department of Clinical Genetics, Guy's Hospital NHS Trust, St Thomas Street, London SE1 9RT, UK.

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http://dx.doi.org/10.1007/s00415-004-0427-yDOI Listing
July 2004

The genetics of primary dystonias and related disorders.

Authors:
Andrea H Németh

Brain 2002 Apr;125(Pt 4):695-721

The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK.

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http://dx.doi.org/10.1093/brain/awf090DOI Listing
April 2002