Publications by authors named "James M Polke"

40Publications

, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts.

Authors:
Beatrice Costa Claudia Manzoni Manuel Bernal-Quiros Demis A Kia Miquel Aguilar Ignacio Alvarez Victoria Alvarez Ole Andreassen Maria Anfossi Silvia Bagnoli Luisa Benussi Livia Bernardi Giuliano Binetti Daniel Blackburn Mercè Boada Barbara Borroni Lucy Bowns Geir Bråthen Amalia C Bruni Huei-Hsin Chiang Jordi Clarimon Shuna Colville Maria E Conidi Tom E Cope Carlos Cruchaga Chiara Cupidi Maria Elena Di Battista Janine Diehl-Schmid Monica Diez-Fairen Oriol Dols-Icardo Elisabetta Durante Dušan Flisar Francesca Frangipane Daniela Galimberti Maura Gallo Maurizio Gallucci Roberta Ghidoni Caroline Graff Jordan H Grafman Murray Grossman John Hardy Isabel Hernández Guy Jt Holloway Edward D Huey Ignacio Illán-Gala Anna Karydas Behzad Khoshnood Milica G Kramberger Mark Kristiansen Patrick A Lewis Alberto Lleó Gaganjit K Madhan Raffaele Maletta Aleš Maver Manuel Menendez-Gonzalez Graziella Milan Bruce Miller Merel O Mol Parastoo Momeni Sonia Moreno-Grau Chris M Morris Benedetta Nacmias Christer Nilsson Valeria Novelli Linn Öijerstedt Alessandro Padovani Suvankar Pal Yasmin Panchbhaya Pau Pastor Borut Peterlin Irene Piaceri Stuart Pickering-Brown Yolande Al Pijnenburg Annibale A Puca Innocenzo Rainero Antonella Rendina Anna Mt Richardson Ekaterina Rogaeva Boris Rogelj Sara Rollinson Giacomina Rossi Carola Rossmeier James B Rowe Elisa Rubino Agustín Ruiz Raquel Sanchez-Valle Sigrid B Sando Alexander F Santillo Jennifer Saxon Elio Scarpini Maria Serpente Nicoletta Smirne Sandro Sorbi EunRan Suh Fabrizio Tagliavini Jennifer C Thompson John Q Trojanowski Vivianna M Van Deerlin Julie Van der Zee Christine Van Broeckhoven Jeroen van Rooij John C Van Swieten Arianna Veronesi Emilia Vitale Maria L Waldö Cathy Woodward Jennifer Yokoyama Valentina Escott-Price James M Polke Raffaele Ferrari

Neurology 2020 Sep 17. Epub 2020 Sep 17.

University College London, Institute of Neurology, London, UK

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http://dx.doi.org/10.1212/WNL.0000000000010914DOI Listing
September 2020

A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.

J Peripher Nerv Syst 2020 Sep 29;25(3):303-307. Epub 2020 May 29.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1111/jns.12386DOI Listing
September 2020

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Neurology 2020 01 11;94(1):e51-e61. Epub 2019 Dec 11.

From the MRC Centre for Neuromuscular Diseases (A.C., J.M.P., R.P., M.S., A.M.R., M.L., P.J.T., H.H., M.M.R.), Department of Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; and the Department of Neurology (J.E.W., M.E.S.), University of Iowa Carver College of Medicine, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000008672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011687PMC
January 2020

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

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

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

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

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

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

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

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

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