Thomas T Warner

Thomas T Warner

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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Lancet Neurol 2019 Dec 31;18(12):1136-1146. Epub 2019 Jul 31.

Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(19)30235-2DOI Listing
December 2019

The long-term outcome of impulsive compulsive behaviours in Parkinson's disease.

J Neurol Neurosurg Psychiatry 2019 Nov 1;90(11):1288-1289. Epub 2019 Feb 1.

Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK

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http://dx.doi.org/10.1136/jnnp-2018-319891DOI Listing
November 2019

Lower nucleus accumbens α-synuclein load and D3 receptor levels in Parkinson's disease with impulsive compulsive behaviours.

Brain 2019 Nov;142(11):3580-3591

Reta Lila Weston Institute of Neurological Studies, Department of Clinical Movement Disorder and Neuroscience, UCL Queen Square Institute of Neurology, 1 Wakefield Street, London, UK.

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http://dx.doi.org/10.1093/brain/awz298DOI Listing
November 2019

Early presentation of urinary retention in multiple system atrophy: can the disease begin in the sacral spinal cord?

J Neurol 2019 Nov 12. Epub 2019 Nov 12.

Reta Lila Weston Institute of Neurological Studies and Queen Square Brain Bank, UCL Queen Square Institute of Neurology, London, UK.

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http://dx.doi.org/10.1007/s00415-019-09597-2DOI Listing
November 2019

Training in neurology: lessons learnt.

Pract Neurol 2019 Oct 13;19(5):431-437. Epub 2019 May 13.

Dementia Research Centre, National Hospital for Neurology and Neurosurgery, London, UK

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http://dx.doi.org/10.1136/practneurol-2018-002129DOI Listing
October 2019

Neuropathological progression of clinical Parkinson disease subtypes.

Nat Rev Neurol 2019 06;15(6):361

Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/s41582-019-0197-xDOI Listing
June 2019

Association of autonomic symptoms with disease progression and survival in progressive supranuclear palsy.

J Neurol Neurosurg Psychiatry 2019 May 31;90(5):555-561. Epub 2018 Dec 31.

Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK

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http://dx.doi.org/10.1136/jnnp-2018-319374DOI Listing
May 2019

Prognosis and Neuropathologic Correlation of Clinical Subtypes of Parkinson Disease.

JAMA Neurol 2019 Apr;76(4):470-479

Reta Lila Weston Institute of Neurological Studies, University College London Queen Square Institute of Neurology, London, England.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2018.4377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459129PMC
April 2019

Clinical presentations of Wilson disease.

Ann Transl Med 2019 Apr;7(Suppl 2):S60

UCL Institute for Liver and Digestive Health, Division of Medicine, Royal Free Campus, London, UK.

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http://dx.doi.org/10.21037/atm.2019.04.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531646PMC
April 2019

Dystonia.

Handb Clin Neurol 2018 ;159:229-236

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-63916-5.00014-8DOI Listing
March 2019

Copy number variation of in familial dystonic tremor.

Neurol Genet 2019 Feb 4;5(1):e307. Epub 2019 Feb 4.

Medical Research (Level 4) (V.A., B.A.C., G.V.H., H.H., A.S.-N., J.K.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, United Kingdom; Reta Lila Weston Institute of Neurological Studies (V.A., T.T.W.), UCL Institute of Neurology, London, United Kingdom; Department of Neurology (T.I.), Government Medical College, Thiruvananthapuram, Kerala, India; Department of Anatomy and Microbiology (R.S.), Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India; Clinical Neuroscience (C.P.), Royal Free Campus, UCL Institute of Neurology, London, United Kingdom; Institute of Psychological Medicine and Clinical Neurosciences (K.P.), Cardiff University, Cardiff, United Kingdom; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (L.N.C.), Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY; Institute of Biomedical and Clinical Science (R.C., H.L.A., M.W.), University of Exeter Medical School, United Kingdom; and Departments of Neurology and Chronic Disease Epidemiology and Center for Neuroepidemiology and Clinical Neurological Research (E.D.L.), Yale School of Medicine and Yale School of Public Health, Yale University, New Haven, CT.

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http://dx.doi.org/10.1212/NXG.0000000000000307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384021PMC
February 2019

Neuropathology of Circadian Alterations in Parkinson Disease-Reply.

JAMA Neurol 2019 01;76(1):115-116

Queen Square Brain Bank for Neurological Disorders, University College London Institute of Neurology, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2018.3758DOI Listing
January 2019

Saccadic Direction Errors are Associated with Impulsive Compulsive Behaviours in Parkinson's Disease Patients.

J Parkinsons Dis 2019 ;9(3):625-630

Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.3233/JPD-181460DOI Listing
January 2019

Analysis of macroautophagy related proteins in G2019S LRRK2 Parkinson's disease brains with Lewy body pathology.

Brain Res 2018 12 25;1701:75-84. Epub 2018 Jul 25.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, 1 Wakefield Street, London WC1N 1PJ, United Kingdom; Department of Clinical and Movement Neuroscience, UCL Institute of Neurology, WC1N 3BG, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2018.07.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361106PMC
December 2018

Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia.

Mov Disord 2018 12 17;33(12):1956-1961. Epub 2018 Oct 17.

Motor Control and Movement Disorder Group, Institute of Molecular and Clinical Sciences, St George's University of London, London, UK.

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http://dx.doi.org/10.1002/mds.27517DOI Listing
December 2018

Reply to: Young- onset multiple system atrophy.

Mov Disord 2018 12;33(12):1975-1976

Department of Clinical and Movement Neurosciences, UCL Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.27572DOI Listing
December 2018

Compulsive sexual behaviour in Parkinson's disease is associated with higher doses of levodopa.

J Neurol Neurosurg Psychiatry 2018 10 24;89(10):1121-1123. Epub 2017 Nov 24.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317298DOI Listing
October 2018

The Outcome of Dopamine Dysregulation Syndrome in Parkinson's Disease: A Retrospective Postmortem Study.

Mov Disord Clin Pract 2018 Sep-Oct;5(5):519-522. Epub 2018 Oct 4.

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

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http://dx.doi.org/10.1002/mdc3.12671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207120PMC
October 2018

A Histologic Study of the Circadian System in Parkinson Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy.

JAMA Neurol 2018 08;75(8):1008-1012

Queen Square Brain Bank for Neurological Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1001/jamaneurol.2018.0640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142937PMC
August 2018

No evidence of iatrogenic human transmission in autopsy confirmed multiple system atrophy.

Mov Disord 2018 07 23;33(7):1183-1184. Epub 2018 Mar 23.

Queen Square Brain Bank for Neurological Disorders, University College London (UCL) Institute of Neurology, London, UK.

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http://dx.doi.org/10.1002/mds.27370DOI Listing
July 2018

Autonomic Dysfunction in Parkinson's Disease: The Hidden Game Changer?

Mov Disord 2018 07 14;33(6):1028. Epub 2018 May 14.

Queen Square Brain Bank for Neurological Disorders, University college London Institute of Neurology, London, UK.

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http://dx.doi.org/10.1002/mds.27422DOI Listing
July 2018

Association between diabetes and subsequent Parkinson disease: A record-linkage cohort study.

Neurology 2018 07 13;91(2):e139-e142. Epub 2018 Jun 13.

From the Reta Lila Weston Institute of Neurological Studies, Department of Molecular Neurosciences (E.D.P.-F., A.J.N., T.T.W.), and Queen Square Brain Bank for Neurological Disorders (E.D.P.-F., T.T.W.), UCL Institute of Neurology, London; Unit of Health-Care Epidemiology (R.G., J.P.), Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Population Health, University of Oxford; and Preventive Neurology Unit (A.J.N.), Wolfson Institute of Preventive Medicine, Queen Mary University of London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005771DOI Listing
July 2018

Phenotypes, genotypes, and the management of paroxysmal movement disorders.

Dev Med Child Neurol 2018 06 30;60(6):559-565. Epub 2018 Mar 30.

Department of Molecular Neuroscience, Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/dmcn.13744DOI Listing
June 2018

Dopamine reuptake transporter-single-photon emission computed tomography and transcranial sonography as imaging markers of prediagnostic Parkinson's disease.

Mov Disord 2018 03 30;33(3):478-482. Epub 2018 Jan 30.

Department of Clinical Neurosciences, Royal Free Campus, UCL Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1002/mds.27282DOI Listing
March 2018

The neuropsychological profile of Othello syndrome in Parkinson's disease.

Cortex 2017 11 16;96:158-160. Epub 2017 Aug 16.

National Hospital for Neurology and Neurosurgery, London, UK; Dipartimento di Scienze Psicologiche, Pedagogiche e della Formazione, Università degli Studi di Palermo, Palermo, Italy.

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http://dx.doi.org/10.1016/j.cortex.2017.08.009DOI Listing
November 2017

Exenatide once weekly versus placebo in Parkinson's disease: a randomised, double-blind, placebo-controlled trial.

Lancet 2017 Oct 3;390(10103):1664-1675. Epub 2017 Aug 3.

Sobell Department of Motor Neuroscience, University College London Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(17)31585-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831666PMC
October 2017

Iatrogenic B12-deficient peripheral neuropathy following nitrous oxide administration for functional tonic leg spasm: A case report.

Clin Neurol Neurosurg 2017 Sep 6;160:108-110. Epub 2017 Jul 6.

National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, United Kingdom; Reta Lila Weston Institute, University College London, WC1N 1PJ, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03038467173020
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http://dx.doi.org/10.1016/j.clineuro.2017.07.006DOI Listing
September 2017

Dystonia.

Br Med Bull 2017 09;123(1):91-102

Reta Lila Weston Institute of Neurological Studies, UCL institute of Neurology, 1 Wakefield Street, WC1N 1PJ London, UK.

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http://dx.doi.org/10.1093/bmb/ldx019DOI Listing
September 2017

Association of Autonomic Dysfunction With Disease Progression and Survival in Parkinson Disease.

JAMA Neurol 2017 08;74(8):970-976

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

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http://dx.doi.org/10.1001/jamaneurol.2017.1125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710320PMC
August 2017

Neuroendocrine abnormalities in Parkinson's disease.

J Neurol Neurosurg Psychiatry 2017 Feb 31;88(2):176-185. Epub 2016 Oct 31.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2016-314601DOI Listing
February 2017

Hypothalamic α-synuclein and its relation to weight loss and autonomic symptoms in Parkinson's disease.

Mov Disord 2017 02 28;32(2):296-298. Epub 2016 Nov 28.

Queen Square Brain Bank for Neurological Disorders, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1002/mds.26868DOI Listing
February 2017

Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology.

Brain 2016 12 25;139(Pt 12):3237-3252. Epub 2016 Oct 25.

1 Queen Square Brain Bank for Neurological Disorders, UCL Institute of Neurology, University College London, London, UK

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http://dx.doi.org/10.1093/brain/aww256DOI Listing
December 2016

Analysis of White Adipose Tissue Gene Expression Reveals CREB1 Pathway Altered in Huntington's Disease.

J Huntingtons Dis 2015 ;4(4):371-82

Brain Disease Biomarker unit, Department of Experimental Medical Science, Wallenberg Neuroscience Centre, Lund University, Lund, Sweden.

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http://dx.doi.org/10.3233/JHD-150172DOI Listing
October 2016

MSA-C or SCA 17? A clinicopathological case update.

Mov Disord 2016 10;31(10):1582-1584

Reta Lila Weston Institute of Neurological Studies and Queen Square Brain Bank for Neurological Disorders, London, UK.

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http://dx.doi.org/10.1002/mds.26741DOI Listing
October 2016

A Retrospective Evaluation of the Frequency of Impulsive Compulsive Behaviors in Parkinson's Disease Patients Treated with Continuous Waking Day Apomorphine Pumps.

Mov Disord Clin Pract 2017 May-Jun;4(3):323-328. Epub 2016 Aug 11.

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

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http://dx.doi.org/10.1002/mdc3.12416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174511PMC
August 2016

A 24-Hour Study of the Hypothalamo-Pituitary Axes in Huntington's Disease.

PLoS One 2015 2;10(10):e0138848. Epub 2015 Oct 2.

Department of Clinical Neurosciences, UCL Institute of Neurology, London, United Kingdom; Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138848PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592185PMC
June 2016

Effects of age and cognition on a cross-cultural paediatric adaptation of the Sniffin' Sticks Identification Test.

PLoS One 2015 12;10(8):e0131641. Epub 2015 Aug 12.

Complex motor disorders service, Neurology Department and Physical and Occupational Therapy Department, HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Neurology Department, HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom; Medicine Department, Universidade Nove de Julho, Uninove, São Paulo, São Paulo, Brazil.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131641PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534354PMC
May 2016

Systematic review and meta-analysis of salivary protein concentration in Parkinson's disease.

Mov Disord 2015 Dec 19;30(14):1971-2. Epub 2015 Nov 19.

Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.26462DOI Listing
December 2015

Elevated salivary protein in Parkinson's disease and salivary DJ-1 as a potential marker of disease severity.

Parkinsonism Relat Disord 2015 Oct 23;21(10):1251-5. Epub 2015 Jul 23.

Mucosal & Salivary Biology Division, Floor 17 Tower Wing, King's College London Dental Institute, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.07.021DOI Listing
October 2015

In a rush to decide: deep brain stimulation and dopamine agonist therapy in Parkinson's disease.

J Parkinsons Dis 2014 ;4(4):579-83

Laboratory of Neuropsychology, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/JPD-140388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256136PMC
August 2015

Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases.

J Neurol Neurosurg Psychiatry 2015 Aug 4;86(8):934-6. Epub 2014 Dec 4.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK Queen Square Brain Bank for Neurological Disorders, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2014-309460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516009PMC
August 2015

Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

Mov Disord Clin Pract 2015 Jun 16;2(2):182-186. Epub 2015 Mar 16.

Reta Lila Weston Institute of Neurological Studies UCL Institute of Neurology London United Kingdom.

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http://dx.doi.org/10.1002/mdc3.12138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353500PMC
June 2015

Do Parkinson's Disease Patients Have Deficits in Sequential Sampling Tasks?

Mov Disord Clin Pract 2014 Dec 31;1(4):325-328. Epub 2014 Jul 31.

Laboratory of Neuropsychology National Institute of Mental Health National Institutes of Health Bethesda Maryland USA.

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http://dx.doi.org/10.1002/mdc3.12076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183191PMC
December 2014

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

A systematic evaluation of integration free reprogramming methods for deriving clinically relevant patient specific induced pluripotent stem (iPS) cells.

PLoS One 2013 26;8(11):e81622. Epub 2013 Nov 26.

Research Department of Haematology, University College London Cancer Institute, University College London, London, United Kingdom ; National Health Service Blood and Transplant Unit, National Health Service, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081622PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841145PMC
October 2014

Plasma melatonin is reduced in Huntington's disease.

Mov Disord 2014 Oct 27;29(12):1511-5. Epub 2014 Aug 27.

Reta Lila Weston Institute of Neurological Studies, Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1002/mds.26003DOI Listing
October 2014

A critical evaluation of inflammatory markers in Huntington's Disease plasma.

J Huntingtons Dis 2013 ;2(1):125-34

Department of Experimental Medical Science, Brain Disease Biomarker Unit, Wallenberg Neuroscience Center, Lund University, Lund, Sweden.

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http://dx.doi.org/10.3233/JHD-130049DOI Listing
September 2014

Late onset ataxia: MSA-C or SCA 17? A gene penetrance dilemma.

Mov Disord 2014 Jan 16;29(1):36-8. Epub 2013 Dec 16.

Reta Lila Weston Institute of Neurological studies, UCL Institute of Neurology, London, United Kingdom; National hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25770DOI Listing
January 2014

Dystonia rating scales: critique and recommendations.

Mov Disord 2013 Jun;28(7):874-83

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Milano, Italy; Neurologia I, Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1002/mds.25579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207366PMC
June 2013

Emerging common molecular pathways for primary dystonia.

Mov Disord 2013 Jun;28(7):968-81

Department of Neurology, University of Tennessee Health Science Center Memphis, Tennessee 38163, USA.

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http://dx.doi.org/10.1002/mds.25547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838975PMC
June 2013

Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.

Curr Neuropharmacol 2013 Jan;11(1):30-40

Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, Rowland Hill Street, London NW3 2PF, United Kingdom.

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http://dx.doi.org/10.2174/157015913804999432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580789PMC
January 2013

What sample sizes for reliability and validity studies in neurology?

J Neurol 2012 Dec 24;259(12):2681-94. Epub 2012 Jun 24.

Clinical Neurology Research Group, Peninsula College of Medicine and Dentistry, Tamar Science Park, Room N13 ITTC Building, Davy Road, Plymouth, UK.

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http://dx.doi.org/10.1007/s00415-012-6570-yDOI Listing
December 2012

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.

Amyotroph Lateral Scler 2011 Mar 30;12(2):148-9. Epub 2010 Dec 30.

UCL Institute of Neurology, University College, London, UK.

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http://dx.doi.org/10.3109/17482968.2010.543689DOI Listing
March 2011

CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process.

EMBO J 2011 Jan 19;30(1):181-93. Epub 2010 Nov 19.

Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/emboj.2010.285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3020110PMC
January 2011

TorsinA and DYT1 dystonia: a synaptopathy?

Biochem Soc Trans 2010 Apr;38(2):452-6

Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK.

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http://dx.doi.org/10.1042/BST0380452DOI Listing
April 2010

Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons.

Proc Natl Acad Sci U S A 2009 Jul 6;106(28):11535-9. Epub 2009 Jul 6.

Division of Medicine, Royal Free Centre for Biomedical Science, University College London Medical School, University College London, London NW3 2PF, United Kingdom.

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http://dx.doi.org/10.1073/pnas.0903011106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2710652PMC
July 2009

TorsinA and dystonia: from nuclear envelope to synapse.

J Neurochem 2009 Jun 8;109(6):1596-609. Epub 2009 Apr 8.

Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/j.1471-4159.2009.06095.xDOI Listing
June 2009

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Neuromuscul Disord 2009 Feb 3;19(2):151-4. Epub 2008 Dec 3.

Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, United Kingdom.

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http://dx.doi.org/10.1016/j.nmd.2008.11.002DOI Listing
February 2009

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Lancet Neurol 2008 Dec;7(12):1127-38

Neuropathobiology Laboratory, Cancer Research UK, London, UK.

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http://dx.doi.org/10.1016/S1474-4422(08)70258-8DOI Listing
December 2008

The cervical dystonia impact profile (CDIP-58): can a Rasch developed patient reported outcome measure satisfy traditional psychometric criteria?

Health Qual Life Outcomes 2008 Aug 6;6:58. Epub 2008 Aug 6.

Neurological Outcome Measures Unit, Institute of Neurology, University College London, Queen Square, London, UK.

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http://dx.doi.org/10.1186/1477-7525-6-58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538506PMC
August 2008

The dystonia-associated protein torsinA modulates synaptic vesicle recycling.

J Biol Chem 2008 Mar 31;283(12):7568-79. Epub 2007 Dec 31.

Cancer Research UK London Research Institute, Lincoln's Inn Fields Laboratories, 44 Lincoln's Inn Fields, London WC2A 3PX, United Kingdom.

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http://dx.doi.org/10.1074/jbc.M704097200DOI Listing
March 2008

Spastin and microtubules: Functions in health and disease.

J Neurosci Res 2007 Sep;85(12):2778-82

Molecular NeuroPathobiology, Cancer Research United Kingdom London Research Institute, Lincoln's Inn Fields Laboratories, London, UK.

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http://dx.doi.org/10.1002/jnr.21238DOI Listing
September 2007

Spastin and microtubules: Functions in health and disease.

J Neurosci Res 2007 Sep;85(12):2778-82

Molecular NeuroPathobiology, Cancer Research United Kingdom London Research Institute, Lincoln's Inn Fields Laboratories, London, UK.

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http://dx.doi.org/10.1002/jnr.21238DOI Listing
September 2007

Evidence-based guidelines for using the Short Form 36 in cervical dystonia.

Mov Disord 2007 Jan;22(1):122-6

Neurological Outcomes Measures Unit, Institute of Neurology, University College London, United Kingdom.

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http://dx.doi.org/10.1002/mds.21187DOI Listing
January 2007

Human spastin has multiple microtubule-related functions.

J Neurochem 2005 Dec 7;95(5):1411-20. Epub 2005 Oct 7.

Molecular NeuroPathobiology Laboratories, Cancer Research UK London Research Institute, Lincoln's Inn Fields Laboratories, London, UK.

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http://dx.doi.org/10.1111/j.1471-4159.2005.03472.xDOI Listing
December 2005

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Neurogenetics 2005 May 12;6(2):79-84. Epub 2005 Feb 12.

Department of Medical Genetics, St. George's Hospital Medical School, Cranmer Terrace, Tooting, London, SW17 0RE, UK.

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http://dx.doi.org/10.1007/s10048-004-0209-9DOI Listing
May 2005

A novel RAB7 mutation associated with ulcero-mutilating neuropathy.

Ann Neurol 2004 Oct;56(4):586-90

University Department of Clinical Neurosciences, Royal Free Campus, Royal Free and University College Medical School, University College London, United Kingdom.

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http://dx.doi.org/10.1002/ana.20281DOI Listing
October 2004

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.

J Neurol 2004 Sep;251(9):1068-74

Dept. of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.

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http://dx.doi.org/10.1007/s00415-004-0401-8DOI Listing
September 2004

Patient-based outcomes of cervical dystonia: a review of rating scales.

Mov Disord 2004 Sep;19(9):1054-9

Department of Clinical Neurosciences, Royal Free & University College Medical School, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.20055DOI Listing
September 2004

Clinical diagnosis of cervical dystonia.

Eur J Gen Pract 2004 Jun;10(2):73-4; discussion 74

College of Medicines, University of Edinburgh, Teviot Place, Edinburgh, UK.

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http://dx.doi.org/10.3109/13814780409094239DOI Listing
June 2004

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Brain 2004 May 25;127(Pt 5):973-80. Epub 2004 Feb 25.

Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.

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http://dx.doi.org/10.1093/brain/awh125DOI Listing
May 2004

Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene.

Adv Neurol 2004 ;94:143-6

Department of Clinical Neuroscience, Royal Free and University College Medical School, London, United Kingdom.

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October 2003

Genetic and environmental factors in the cause of Parkinson's disease.

Ann Neurol 2003 ;53 Suppl 3:S16-23; discussion S23-5

Department of Clinical Neurosciences, Royal Free and University College Medical School, London NW3 2PF, United Kingdom.

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http://dx.doi.org/10.1002/ana.10487DOI Listing
April 2003

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

J Neurol Sci 2002 Sep;201(1-2):65-9

Department of Clinical Neurosciences, Royal Free and University College Medical School, Rowland Hill Street, NW3 2PF, London, UK.

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http://dx.doi.org/10.1016/s0022-510x(02)00192-2DOI Listing
September 2002

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.

Mov Disord 2002 Jul;17(4):717-25

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

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http://dx.doi.org/10.1002/mds.10126DOI Listing
July 2002

Impact of cervical dystonia on quality of life.

Mov Disord 2002 Jul;17(4):838-41

University Department of Clinical Neurosciences, Royal Free and University College Medical School, London, United Kingdom.

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http://doi.wiley.com/10.1002/mds.10127
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http://dx.doi.org/10.1002/mds.10127DOI Listing
July 2002