Publications by authors named "Andrea Haworth"

12Publications

Early-onset cerebellar ataxia in a patient with CMT2A2.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA.

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June 2020

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

Brain 2016 Feb;139(Pt 2):380-91

3 Institute of Neurology, University College London and MRC Centre for Neuromuscular Disease, Queen Square, UK 5 Neurogenetics Unit, National Hospital for Neurology, Queen Square, UK.

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February 2016

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Neurology 2014 Jan 20;82(4):292-9. Epub 2013 Dec 20.

From the Departments of Neurodegenerative Disease (D.J.H.M., P.M., E.J.W., S.M., S.J.T.) and Molecular Neuroscience (H.H.), UCL Institute of Neurology, London; MRC Prion Unit (M.P., J.B., T.C., G.A.), London; and Neurogenetics Unit (J.H., J.M.P., E.M., A.H., M.G.S., H.H.), National Hospital for Neurology and Neurosurgery, University College London Hospitals, UK.

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January 2014

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Neurology 2013 Apr 20;80(16):1472-5. Epub 2013 Mar 20.

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and University College London Institute of Neurology, Queen Square, London, UK.

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April 2013

The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.

Hum Mutat 2012 Sep 2;33(9):1324-32. Epub 2012 Jul 2.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

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September 2012

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Ann Neurol 2011 Feb;69(2):328-40

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London, Institute of Neurology London, UK.

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February 2011

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Mov Disord 2011 Apr 1;26(5):905-9. Epub 2011 Feb 1.

Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.

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April 2011