Janice L Holton

Janice L Holton

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Janice L Holton

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Corticospinal tract degeneration and temporal lobe atrophy in frontotemporal lobar degeneration TDP-43 type C pathology.

Neuropathol Appl Neurobiol 2019 Oct 10. Epub 2019 Oct 10.

Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, 1 Wakefield Street, London, WC1N 1PJ, UK.

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http://dx.doi.org/10.1111/nan.12582DOI Listing
October 2019

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

Brain 2019 Oct 11. Epub 2019 Oct 11.

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
October 2019

Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study.

Brain 2019 Sep;142(9):2813-2827

Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, 1 Wakefield Street, London, UK.

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http://dx.doi.org/10.1093/brain/awz189DOI Listing
September 2019

The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.

Mov Disord 2019 Sep 12;34(9):1307-1314. Epub 2019 Jul 12.

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

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http://dx.doi.org/10.1002/mds.27786DOI Listing
September 2019

White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.

Acta Neuropathol 2019 Sep 18. Epub 2019 Sep 18.

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

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http://dx.doi.org/10.1007/s00401-019-02074-0DOI Listing
September 2019

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 Aug 19. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.003DOI Listing
August 2019

Neuropathological progression of clinical Parkinson disease subtypes.

Nat Rev Neurol 2019 Jun;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

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

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

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.

Sci Rep 2019 Apr 25;9(1):6559. Epub 2019 Apr 25.

Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1038/s41598-019-42902-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484105PMC
April 2019

Neuropathology of Circadian Alterations in Parkinson Disease-Reply.

JAMA Neurol 2019 Jan;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

Disease-related patterns of in vivo pathology in Corticobasal syndrome.

Eur J Nucl Med Mol Imaging 2018 12 8;45(13):2413-2425. Epub 2018 Aug 8.

Neurodegeneration Imaging Group, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, 125 Coldharbour Lane, Camberwell, London, SE5 9NU, UK.

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http://dx.doi.org/10.1007/s00259-018-4104-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208819PMC
December 2018

The aftermath of boxing revisited: identifying chronic traumatic encephalopathy pathology in the original Corsellis boxer series.

Acta Neuropathol 2018 12 30;136(6):973-974. Epub 2018 Oct 30.

Division of Brain Sciences, Department of Medicine, Imperial College London, 4th Floor Burlington Danes Building, Hammersmith Campus, Du Cane Road, London, W12 0NN, UK.

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http://dx.doi.org/10.1007/s00401-018-1926-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280830PMC
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

Autophagy in neurodegeneration and aging.

Aging (Albany NY) 2018 11;10(12):3632-3633

Hirosaki University Graduate School of Medicine, Department of Neuropathology, Institute of Brain Science, Hirosaki, Japan.

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http://dx.doi.org/10.18632/aging.101652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326697PMC
November 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

Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain.

J Neuropathol Exp Neurol 2018 07;77(7):598-607

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

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http://dx.doi.org/10.1093/jnen/nly035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005028PMC
July 2018

The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease.

Acta Neuropathol Commun 2018 07 20;6(1):62. Epub 2018 Jul 20.

The Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s40478-018-0563-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053705PMC
July 2018

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Neuromuscul Disord 2018 04 10;28(4):346-349. Epub 2018 Jan 10.

MRC Centre for Neuromuscular Disease and Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.01.002DOI Listing
April 2018

Atypical periodic paralysis and myalgia: A novel phenotype.

Neurology 2018 01 3;90(5):e412-e418. Epub 2018 Jan 3.

From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790PMC
January 2018

Calpainopathy with macrophage-rich, regional inflammatory infiltrates.

Neuromuscul Disord 2017 Aug 27;27(8):738-741. Epub 2017 Apr 27.

Division of Neuropathology, UCL Institute of Neurology, Queen Square, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.04.012DOI Listing
August 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

Homozygous mutation in causing distal vacuolar myopathy and motor neuropathy.

Neurol Genet 2017 Aug 6;3(4):e168. Epub 2017 Jul 6.

MRC Centre for Neuromuscular Diseases (E.B., A.M.R., J.C.B., M.G.H., J.L.H., M.M.R., E.M.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., A.M.P., M.G.H., H.H., J.L.H.), and Division of Neuropathology (J.L.H.), UCL Institute of Neurology, London; Department of Neurology (M.S.), The Royal London Hospital; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499975PMC
August 2017

Clinicopathologic and molecular spectrum of -related mitochondrial disease.

Neurol Genet 2017 Jun 2;3(3):e149. Epub 2017 May 2.

MRC Centre for Neuromuscular Diseases (E.B., O.V.P., A.M., A.H., J.L.H., H.H., M.G.H., R.D.S.P.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (A.M., A.M.P., J.L.H., H.H., M.G.H.), Division of Neuropathology (J.L.H.), Department of Clinical Neuroscience (J.-W.T., A.S., I.J.H.), UCL Institute of Neurology; Neurometabolic Unit (I.H.), Neurogenetics Unit (C.E.W., M.G.S.), Department of Neuro-ophthalmology (G.T.P.), National Hospital for Neurology and Neurosurgery, London; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; MRC-Mitochondrial Biology Unit (M.Z.), Cambridge, UK; Unit of Molecular Neurogenetics (D.G.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Oxford Medical Genetics Laboratories (J.T., C.S., C.F.), Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, UK; Department of Neurology (M.A.K.), Nizam's Institute of Medical Sciences; CSIR-Centre for Cellular and Molecular Biology (A.P., K.T.), Hyderabad, Telangana, India; MRC Mill Hill Laboratory (I.J.H.), London, UK; Biodonostia Research Institute (I.J.H.), San Sebastián, Spain; and Department of Basic and Clinical Neuroscience (R.D.S.P.), Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413961PMC
June 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

Analysis of the prion protein gene in multiple system atrophy.

Neurobiol Aging 2017 01 3;49:216.e15-216.e18. Epub 2016 Oct 3.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.09.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5156473PMC
January 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

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.

J Neuropathol Exp Neurol 2016 12;75(12):1171-1178

From the Department of Neurology, Southmead Hospital, Bristol, UK (SB); Department of Neuropathology, Royal Victoria Hospital, N. Ireland, Belfast, Northern Ireland (EGH); UCL Institute of Neurology, Queen Square, London, UK (QG, HH, JLH); MRC Centre for Neuromuscular Diseases, University College Hospitals, London, UK (MP, RQ, MGH); Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK (SJ); Department of Cellular Pathology, Queen Elizabeth Hospital, Birmingham, UK (EC); King's College London, MRC London Neurodegenerative Diseases Brain Bank, London, UK (SA-S); Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK (CAS); and Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK (DB)

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http://dx.doi.org/10.1093/jnen/nlw096DOI Listing
December 2016

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082791PMC
November 2016

Muscle Biopsy Findings in Combination With Myositis-Specific Autoantibodies Aid Prediction of Outcomes in Juvenile Dermatomyositis.

Arthritis Rheumatol 2016 11 9;68(11):2806-2816. Epub 2016 Oct 9.

University College London, Great Ormond Street Hospital for Children NHS Foundation Trust, and University College London Hospitals, London, UK.

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http://dx.doi.org/10.1002/art.39753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091622PMC
November 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

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

J Neurol Neurosurg Psychiatry 2016 08 4;87(8):802-9. Epub 2016 May 4.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2016-313163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047737PMC
August 2016

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI Listing
August 2016

Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?

J Neurol Neurosurg Psychiatry 2016 06 24;87(6):633-41. Epub 2015 Jul 24.

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-2015-310756DOI Listing
June 2016

Targeting protein homeostasis in sporadic inclusion body myositis.

Sci Transl Med 2016 Mar;8(331):331ra41

Medical Research Council (MRC) Centre for Neuromuscular Diseases, University College London (UCL) Institute of Neurology, Queen Square, London WC1N 3BG, UK. Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043094PMC
http://dx.doi.org/10.1126/scitranslmed.aad4583DOI Listing
March 2016

Deep brain stimulation of the subthalamic nucleus: histological verification and 9.4-T MRI correlation.

Acta Neurochir (Wien) 2015 Dec 5;157(12):2143-7. Epub 2015 Oct 5.

Unit of Functional Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1007/s00701-015-2599-xDOI Listing
December 2015

Histological evidence of chronic traumatic encephalopathy in a large series of neurodegenerative diseases.

Acta Neuropathol 2015 Dec 24;130(6):891-3. Epub 2015 Oct 24.

Queen Square Brain Bank for Neurological Studies, UCL Institute of Neurology, 1 Wakefield Street, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00401-015-1496-yDOI Listing
December 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

Minimal change multiple system atrophy: an aggressive variant?

Mov Disord 2015 Jun 8;30(7):960-7. Epub 2015 Apr 8.

Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, UK.

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http://doi.wiley.com/10.1002/mds.26220
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http://dx.doi.org/10.1002/mds.26220DOI Listing
June 2015

Rhabdomyolysis: a genetic perspective.

Orphanet J Rare Dis 2015 May 2;10:51. Epub 2015 May 2.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://www.ojrd.com/content/10/1/51
Publisher Site
http://dx.doi.org/10.1186/s13023-015-0264-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522153PMC
May 2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Neurobiol Aging 2015 Apr 14;36(4):1766.e1-1766.e3. Epub 2015 Jan 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378665PMC
April 2015

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Neurobiol Aging 2015 Feb 6;36(2):1223.e1-2. Epub 2014 Sep 6.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315721PMC
February 2015

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Neurobiol Aging 2015 Feb 27;36(2):1221.e1-6. Epub 2014 Aug 27.

Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; The MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321829PMC
February 2015

LRRK2 exonic variants and risk of multiple system atrophy.

Neurology 2014 Dec 5;83(24):2256-61. Epub 2014 Nov 5.

From the Section of Biostatistics (M.G.H., N.N.D.) and Departments of Neuroscience (A.I.S.-O., S.R., K.O., M.E.M., D.W.D., O.A.R.) and Neurology (S.F., W.P.C., R.J.U., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Molecular Neuroscience (L.S., A.S., H.H.), Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Medical Genetics (M.J.F.), University of British Columbia, Vancouver, Canada; Laboratory of Neurogenetics (A.B.S.), National Institute on Aging, Bethesda, MD; Institute of Genetic Medicine (P.F.C., M.J.K.), Newcastle University, Central Parkway, Newcastle upon Tyne; Neuropathology Unit (S.M.G.), Department of Medicine, Imperial College London; Queen Square Brain Bank for Neurological Disorders (J.L.H., K.A.), Department of Molecular Neuroscience, UCL Institute of Neurology, University College London; Clinical and Cognitive Sciences Research Group (D.M.A.M.), Institute of Brain, Behavior and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford; and MRC London Neurodegenerative Diseases Brain Bank (S.A.-S., C.T.), King's College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277668PMC
December 2014

Ongoing developments in sporadic inclusion body myositis.

Curr Rheumatol Rep 2014 Dec;16(12):477

MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Box 102, 8-11 Queen Square, London, WC1N 3BG, UK,

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http://dx.doi.org/10.1007/s11926-014-0477-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4233319PMC
December 2014

The significance of α-synuclein, amyloid-β and tau pathologies in Parkinson's disease progression and related dementia.

Neurodegener Dis 2014 11;13(2-3):154-6. Epub 2013 Sep 11.

Parkinson Disease and Movement Disorders Unit, Neurology Service, IDIBAPS, CIBERNED, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1159/000354670DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194631PMC
September 2014

The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.

Hum Mol Genet 2014 Sep 11;23(17):4491-509. Epub 2014 Apr 11.

Laboratory of Molecular and Chemical Biology of Neurodegeneration, Ecole Polytechnique Fédérale de Lausanne, Station 19, CH-1015 Lausanne, Switzerland

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http://dx.doi.org/10.1093/hmg/ddu165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119404PMC
September 2014

Multiple system atrophy and repeat expansions in C9orf72.

JAMA Neurol 2014 Sep;71(9):1190-1

Department of Molecular Neuroscience, and the Queen Square Brain Bank, University College London Institute of Neurology, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2014.1808DOI Listing
September 2014

A 29-year-old man with difficulty climbing the stairs.

Brain Pathol 2014 Sep;24(5):549-50

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1111/bpa.12202DOI Listing
September 2014

TDP-43 pathology is present in most post-encephalitic parkinsonism brains.

Neuropathol Appl Neurobiol 2014 Aug;40(5):654-7

Reta Lila Weston Institute of Neurological Studies and Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1111/nan.12067DOI Listing
August 2014

From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease.

Arq Neuropsiquiatr 2014 Jul;72(7):538-41

MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1590/0004-282x20140062DOI Listing
July 2014

Alpha-synuclein mRNA expression in oligodendrocytes in MSA.

Glia 2014 Jun 3;62(6):964-70. Epub 2014 Mar 3.

Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/glia.22653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238782PMC
June 2014

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis.

BMJ Open 2014 Apr 28;4(4):e004552. Epub 2014 Apr 28.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/bmjopen-2013-004552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010816PMC
April 2014

Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer.

Acta Neuropathol Commun 2014 Feb 21;2:24. Epub 2014 Feb 21.

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

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http://dx.doi.org/10.1186/2051-5960-2-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996066PMC
February 2014

Strawberries on the brain--intracranial capillary hemangioma: two case reports and systematic literature review in children and adults.

World Neurosurg 2013 Dec 13;80(6):900.e13-21. Epub 2012 Dec 13.

Victor Horsley Department of Neurosurgery, The National Hospital for Neurology and Neurosurgery, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.wneu.2012.12.013DOI Listing
December 2013

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

JAMA Neurol 2013 Dec;70(12):1556-61

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, England13Department of Molecular Neuroscience, University College London Institute o.

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http://dx.doi.org/10.1001/jamaneurol.2013.3242DOI Listing
December 2013

A novel prion disease associated with diarrhea and autonomic neuropathy.

N Engl J Med 2013 Nov;369(20):1904-14

Medical Research Council (MRC) Prion Unit (S.M., J.B., C.C., S.J., J.M.L., H.A.-D., B.S., M.K.S., S.B., J.D.F.W., J.C.), Department of Molecular Neuroscience (S.G., N.W.W.), and Dementia Research Centre, Department of Neurodegenerative Disease (J.D.W.), and MRC Centre for Neuromuscular Diseases (M.M.R.), University College London (UCL) Institute of Neurology; the National Prion Clinic (S.M., D.C., D.G., H.H., P.R., J.C.), National Hospital for Neurology and Neurosurgery (M.K.), UCL Hospitals National Health Service Trust (A.F.); and the Queen Square Brain Bank (H.A., T.L., T.R., J.L.H.) - all in London.

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http://dx.doi.org/10.1056/NEJMoa1214747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863770PMC
November 2013

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

J Neurol Neurosurg Psychiatry 2013 Oct 27;84(10):1119-25. Epub 2013 Feb 27.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2012-304716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044426PMC
October 2013

Primary progressive aphasia with parkinsonism.

Mov Disord 2013 Jun 11;28(6):741-6. Epub 2013 Feb 11.

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

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http://dx.doi.org/10.1002/mds.25341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748791PMC
June 2013

Identification and quantification of oligodendrocyte precursor cells in multiple system atrophy, progressive supranuclear palsy and Parkinson's disease.

Brain Pathol 2013 May 23;23(3):263-73. Epub 2012 Oct 23.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/j.1750-3639.2012.00637.xDOI Listing
May 2013

Morphometric analyses of normal pediatric brachial biceps and quadriceps muscle tissue.

Histol Histopathol 2013 04 8;28(4):525-30. Epub 2013 Feb 8.

Department of Pediatrics, Children Institute, School of Medicine, University of Sao Paulo, Sao Paulo, Brasil.

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http://dx.doi.org/10.14670/HH-28.525DOI Listing
April 2013

Neuropathological findings in benign tremulous parkinsonism.

Mov Disord 2013 Feb 12;28(2):145-52. Epub 2012 Dec 12.

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

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http://dx.doi.org/10.1002/mds.25220DOI Listing
February 2013

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

J Neurol Neurosurg Psychiatry 2013 Jan 29;84(1):107-10. Epub 2012 Aug 29.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jnnp-2012-303232DOI Listing
January 2013

Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catch.

Mov Disord 2012 Aug 17;27(9):1186-90. Epub 2012 Jul 17.

National Hospital for Neurology and Neurosurgery, Queen Square, and the Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25115DOI Listing
August 2012