Caroline Vance

Caroline Vance

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Caroline Vance

Caroline Vance

Publications by authors named "Caroline Vance"

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38Publications

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Antisense oligonucleotide therapies for Amyotrophic Lateral Sclerosis: Existing and emerging targets.

Int J Biochem Cell Biol 2019 May 20;110:149-153. Epub 2019 Mar 20.

Department of Pharmacology and Clinical Pharmacology, University of Auckland, 85 Park Rd, Grafton, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2019.03.009DOI Listing
May 2019

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Neurobiol Aging 2019 01 24;73:229.e5-229.e9. Epub 2018 Aug 24.

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183030
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.08.015DOI Listing
January 2019

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.

Neurobiol Aging 2017 01 5;49:214.e1-214.e5. Epub 2016 Jul 5.

Centre for Brain Research, University of Auckland, Auckland, New Zealand; Department of Anatomy and Medical Imaging, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.06.019DOI Listing
January 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 2016

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.

Brain 2016 05 1;139(Pt 5):1417-32. Epub 2016 Mar 1.

Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK

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http://dx.doi.org/10.1093/brain/aww028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845254PMC
May 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Nat Commun 2016 Apr 15;7:11253. Epub 2016 Apr 15.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.

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http://dx.doi.org/10.1038/ncomms11253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835537PMC
April 2016

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.

Neurobiol Aging 2015 Oct 13;36(10):2908.e17-8. Epub 2015 Jul 13.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.014DOI Listing
October 2015

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

Acta Neuropathol Commun 2015 Oct 9;3:62. Epub 2015 Oct 9.

Department Of Clinical Neuropathology, Academic Neuroscience Building, King's College Hospital, Denmark Hill, SE5 9RS, London, UK.

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http://actaneurocomms.biomedcentral.com/articles/
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http://dx.doi.org/10.1186/s40478-015-0235-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600255PMC
October 2015

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.

Acta Neuropathol Commun 2015 Jun 25;3:36. Epub 2015 Jun 25.

King's Centre for Neurodegeneration Research, Kings College London, Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, London, SE5 8AF, UK.

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http://dx.doi.org/10.1186/s40478-015-0212-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479086PMC
June 2015

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Neurobiol Aging 2015 Mar 31;36(3):1602.e17-27. Epub 2014 Oct 31.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's Health Partners, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.10.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357530PMC
March 2015

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.

Neurobiol Aging 2015 Mar 18;36(3):1601.e17-20. Epub 2014 Dec 18.

Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia; Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.11.011DOI Listing
March 2015

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Dec 5;15(7-8):557-62. Epub 2014 Jun 5.

Nuffield Department of Clinical Neurosciences, University of Oxford.

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http://dx.doi.org/10.3109/21678421.2014.920033DOI Listing
December 2014

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients.

Neurobiol Aging 2012 Dec 11;33(12):2948.e15-7. Epub 2012 Aug 11.

Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, King's Health Partners, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.06.023DOI Listing
December 2012

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients.

Neurobiol Aging 2012 Nov 11;33(11):2721.e1-2. Epub 2012 Jul 11.

Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.06.003DOI Listing
November 2012

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.

Acta Neuropathol 2011 Apr 1;121(4):519-27. Epub 2011 Mar 1.

Department of Clinical Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, De Crespigny Park, London SE58AF, UK.

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http://dx.doi.org/10.1007/s00401-011-0813-3DOI Listing
April 2011

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.

Proc Natl Acad Sci U S A 2010 Apr 5;107(16):7556-61. Epub 2010 Apr 5.

Department of Cellular and Molecular Neuroscience, Division of Neuroscience and Mental Health, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, London W12 0NN, United Kingdom.

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http://dx.doi.org/10.1073/pnas.0914128107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867752PMC
April 2010

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

Science 2008 Mar 28;319(5870):1668-72. Epub 2008 Feb 28.

Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK.

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http://dx.doi.org/10.1126/science.1154584DOI Listing
March 2008

Granule localization of glutaminase in human neutrophils and the consequence of glutamine utilization for neutrophil activity.

J Biol Chem 2004 Apr 13;279(14):13305-10. Epub 2004 Jan 13.

Department of Biochemistry, University of Oxford, United Kingdom.

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http://dx.doi.org/10.1074/jbc.M309520200DOI Listing
April 2004