James Polke

James Polke

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James Polke

James Polke

Publications by authors named "James Polke"

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Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639PMC
April 2019

Severe cognitive impairment in a patient with CMT2A.

J Peripher Nerv Syst 2018 Jun 26;23(2):147-148. Epub 2018 Mar 26.

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

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http://dx.doi.org/10.1111/jns.12260DOI Listing
June 2018

Mutations in noncoding regions of are a major cause of X-linked CMT.

Neurology 2017 Apr 10;88(15):1445-1453. Epub 2017 Mar 10.

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norfolk, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386440PMC
April 2017

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Neuromuscul Disord 2017 Jan 8;27(1):50-56. Epub 2016 Oct 8.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260843PMC
January 2017

Archetypal mutations frequent in public exome: implications for CADASIL.

Ann Clin Transl Neurol 2016 11 28;3(11):844-853. Epub 2016 Sep 28.

Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands.

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http://dx.doi.org/10.1002/acn3.344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099530PMC
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

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

Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.

J Peripher Nerv Syst 2016 Mar;21(1):52-4

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

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http://dx.doi.org/10.1111/jns.12155DOI Listing
March 2016

MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

J Peripher Nerv Syst 2015 Jun;20(2):67-71

MRC Centre for Neuromuscular diseases, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/jns.12117DOI Listing
June 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

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Neurology 2014 Aug 9;83(7):612-9. Epub 2014 Jul 9.

From the MRC Centre for Neuromuscular Diseases (Y.-T.L., M.L., A.H., M.M.R., H.H.) and Departments of Molecular Neuroscience (Y.-T.L., J.H., A.H., A.P., D.H., M.M.R., H.H.) and Clinical Neuroscience (C.P.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery and UCLH (M.L., J.H., A.H., K.G.S., M.M.R., H.H.), London, UK; Section of Epilepsy (Y.-T.L.), Department of Neurology, Neurological Institute, Taipei Veterans General Hospital; National Yang-Ming University School of Medicine (Y.-T.L.), Taipei, Taiwan; Division of Neuropathology (Z.J., S.B.) and Neurogenetics Unit (J.M.P, M.G.S.), National Hospital for Neurology and Neurosurgery; Department of Neurology (J.C.J.), Chelsea and Westminster Hospital, London, UK; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; and Dr. John T. MacDonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL.

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http://www.neurology.org/content/83/7/612.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000069
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http://dx.doi.org/10.1212/WNL.0000000000000691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141994PMC
August 2014

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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http://www.neurology.org/content/82/4/292.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000006
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http://dx.doi.org/10.1212/WNL.0000000000000061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929197PMC
January 2014

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

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Nat Rev Neurol 2013 Oct 10;9(10):562-71. Epub 2013 Sep 10.

MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nrneurol.2013.179DOI Listing
October 2013

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

Neurology 2013 Jun 8;80(23):2106-11. Epub 2013 May 8.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1212/WNL.0b013e318295d789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716354PMC
June 2013

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

J Neurol Neurosurg Psychiatry 2012 Dec 31;83(12):1204-9. Epub 2012 Jul 31.

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

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http://jnnp.bmj.com/content/early/2012/07/30/jnnp-2012-30305
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2012-303055
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http://dx.doi.org/10.1136/jnnp-2012-303055DOI Listing
December 2012

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.

Neurobiol Aging 2012 Aug 22;33(8):1851.e1-5. Epub 2012 Mar 22.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657168PMC
August 2012

X inactivation in females with X-linked Charcot-Marie-Tooth disease.

Neuromuscul Disord 2012 Jul 6;22(7):617-21. Epub 2012 Apr 6.

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

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http://dx.doi.org/10.1016/j.nmd.2012.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657177PMC
July 2012

Phenotype expression in women with CMT1X.

J Peripher Nerv Syst 2011 Jun;16(2):102-7

Department of Neurology, Wayne State University, Detroit, MI 48201, USA.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00332.xDOI Listing
June 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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http://doi.wiley.com/10.1002/mds.23593
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http://dx.doi.org/10.1002/mds.23593DOI Listing
April 2011

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.

Neuromuscul Disord 2011 Mar 21;21(3):223-6. Epub 2011 Jan 21.

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

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http://dx.doi.org/10.1016/j.nmd.2010.12.010DOI Listing
March 2011

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2011 Mar;16(1):65-70

MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00321.xDOI Listing
March 2011