Simon Topp

Simon Topp

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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

Authors:
Han-Jou Chen Simon D Topp Ho Sang Hui Elsa Zacco Malvika Katarya Conor McLoughlin Andrew King Bradley N Smith Claire Troakes Annalisa Pastore Christopher E Shaw

Brain 2019 Dec;142(12):3753-3770

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.

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http://dx.doi.org/10.1093/brain/awz313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885686PMC
December 2019

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Authors:
Sali M K Farhan Daniel P Howrigan Liam E Abbott Joseph R Klim Simon D Topp Andrea E Byrnes Claire Churchhouse Hemali Phatnani Bradley N Smith Evadnie Rampersaud Gang Wu Joanne Wuu Aleksey Shatunov Alfredo Iacoangeli Ahmad Al Khleifat Daniel A Mordes Sulagna Ghosh Kevin Eggan Rosa Rademakers Jacob L McCauley Rebecca Schüle Stephan Züchner Michael Benatar J Paul Taylor Michael Nalls Marc Gotkine Pamela J Shaw Karen E Morrison Ammar Al-Chalabi Bryan Traynor Christopher E Shaw David B Goldstein Matthew B Harms Mark J Daly Benjamin M Neale

Nat Neurosci 2019 12 25;22(12):1966-1974. Epub 2019 Nov 25.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41593-019-0530-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919277PMC
December 2019

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Authors:
Sali M K Farhan Daniel P Howrigan Liam E Abbott Joseph R Klim Simon D Topp Andrea E Byrnes Claire Churchhouse Hemali Phatnani Bradley N Smith Evadnie Rampersaud Gang Wu Joanne Wuu Aleksey Shatunov Alfredo Iacoangeli Ahmad Al Khleifat Daniel A Mordes Sulagna Ghosh Kevin Eggan Rosa Rademakers Jacob L McCauley Rebecca Schüle Stephan Züchner Michael Benatar J Paul Taylor Michael Nalls Marc Gotkine Pamela J Shaw Karen E Morrison Ammar Al-Chalabi Bryan Traynor Christopher E Shaw David B Goldstein Matthew B Harms Mark J Daly Benjamin M Neale

Nat Neurosci 2019 Dec 19. Epub 2019 Dec 19.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41593-019-0570-5DOI Listing
December 2019

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

Authors:
Alfredo Iacoangeli Ahmad Al Khleifat William Sproviero Aleksey Shatunov Ashley R Jones Sarah Opie-Martin Ersilia Naselli Simon D Topp Isabella Fogh Angela Hodges Richard J Dobson Stephen J Newhouse Ammar Al-Chalabi

Amyotroph Lateral Scler Frontotemporal Degener 2019 05 5;20(3-4):207-215. Epub 2019 Mar 5.

c UK Dementia Research Institute, King's College London , London , UK.

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http://dx.doi.org/10.1080/21678421.2018.1562553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567555PMC
May 2019

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.

Authors:
Puja R Mehta Ashley R Jones Sarah Opie-Martin Aleksey Shatunov Alfredo Iacoangeli Ahmad Al Khleifat Bradley N Smith Simon Topp Karen E Morrison Pamela J Shaw Christopher E Shaw Sarah Morgan Alan Pittman Ammar Al-Chalabi

J Neurol Neurosurg Psychiatry 2019 03 30;90(3):268-271. Epub 2018 Sep 30.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK

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http://dx.doi.org/10.1136/jnnp-2018-319089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518463PMC
March 2019

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

Authors:
Soragia Athina Gkazi Claire Troakes Simon Topp Jack W Miller Caroline A Vance Jemeen Sreedharan Ammar Al-Chalabi Janine Kirby Pamela J Shaw Safa Al-Sarraj Andrew King Bradley N Smith Christopher E Shaw

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

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

Authors:
Martina de Majo Simon D Topp Bradley N Smith Agnes L Nishimura Han-Jou Chen Athina Soragia Gkazi Jack Miller Chun Hao Wong Caroline Vance Frank Baas Anneloor L M A Ten Asbroek Kevin P Kenna Nicola Ticozzi Alberto Garcia Redondo Jesús Esteban-Pérez Cinzia Tiloca Federico Verde Stefano Duga Karen E Morrison Pamela J Shaw Janine Kirby Martin R Turner Kevin Talbot Orla Hardiman Jonathan D Glass Jacqueline de Belleroche Cinzia Gellera Antonia Ratti Ammar Al-Chalabi Robert H Brown Vincenzo Silani John E Landers Christopher E Shaw

Neurobiol Aging 2018 11 25;71:266.e1-266.e10. Epub 2018 Jun 25.

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

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183021
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.015DOI Listing
November 2018

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

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Authors:
Bradley N Smith Simon D Topp Claudia Fallini Hideki Shibata Han-Jou Chen Claire Troakes Andrew King Nicola Ticozzi Kevin P Kenna Athina Soragia-Gkazi Jack W Miller Akane Sato Diana Marques Dias Maryangel Jeon Caroline Vance Chun Hao Wong Martina de Majo Wejdan Kattuah Jacqueline C Mitchell Emma L Scotter Nicholas W Parkin Peter C Sapp Matthew Nolan Peter J Nestor Michael Simpson Michael Weale Monkel Lek Frank Baas J M Vianney de Jong Anneloor L M A Ten Asbroek Alberto Garcia Redondo Jesús Esteban-Pérez Cinzia Tiloca Federico Verde Stefano Duga Nigel Leigh Hardev Pall Karen E Morrison Ammar Al-Chalabi Pamela J Shaw Janine Kirby Martin R Turner Kevin Talbot Orla Hardiman Jonathan D Glass Jacqueline De Belleroche Masatoshi Maki Stephen E Moss Christopher Miller Cinzia Gellera Antonia Ratti Safa Al-Sarraj Robert H Brown Vincenzo Silani John E Landers Christopher E Shaw

Sci Transl Med 2017 05;9(388)

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.

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http://dx.doi.org/10.1126/scitranslmed.aad9157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599403PMC
May 2017

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.

Authors:
Swapna Thomas-Jinu Patricia M Gordon Triona Fielding Richard Taylor Bradley N Smith Victoria Snowden Eric Blanc Caroline Vance Simon Topp Chun-Hao Wong Holger Bielen Kelly L Williams Emily P McCann Garth A Nicholson Alejandro Pan-Vazquez Archa H Fox Charles S Bond William S Talbot Ian P Blair Christopher E Shaw Corinne Houart

Neuron 2017 05;94(4):931

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http://dx.doi.org/10.1016/j.neuron.2017.04.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441113PMC
May 2017

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.

Authors:
Swapna Thomas-Jinu Patricia M Gordon Triona Fielding Richard Taylor Bradley N Smith Victoria Snowden Eric Blanc Caroline Vance Simon Topp Chun-Hao Wong Holger Bielen Kelly L Williams Emily P McCann Garth A Nicholson Alejandro Pan-Vazquez Archa H Fox Charles S Bond William S Talbot Ian P Blair Christopher E Shaw Corinne Houart

Neuron 2017 Apr 6;94(2):322-336.e5. Epub 2017 Apr 6.

Centre for Developmental Neurobiology and MRC CNDD, IoPPN, Guy's Campus, King's College London, London SE1 1UL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405110PMC
April 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Authors:
Kevin P Kenna Perry T C van Doormaal Annelot M Dekker Nicola Ticozzi Brendan J Kenna Frank P Diekstra Wouter van Rheenen Kristel R van Eijk Ashley R Jones Pamela Keagle Aleksey Shatunov William Sproviero Bradley N Smith Michael A van Es Simon D Topp Aoife Kenna Jack W Miller Claudia Fallini Cinzia Tiloca Russell L McLaughlin Caroline Vance Claire Troakes Claudia Colombrita Gabriele Mora Andrea Calvo Federico Verde Safa Al-Sarraj Andrew King Daniela Calini Jacqueline de Belleroche Frank Baas Anneke J van der Kooi Marianne de Visser Anneloor L M A Ten Asbroek Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress José Luis Muñoz-Blanco Tim M Strom Thomas Meitinger Karen E Morrison Giuseppe Lauria Kelly L Williams P Nigel Leigh Garth A Nicholson Ian P Blair Claire S Leblond Patrick A Dion Guy A Rouleau Hardev Pall Pamela J Shaw Martin R Turner Kevin Talbot Franco Taroni Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Jesús Esteban-Pérez Alberto García-Redondo Phillip Van Damme Wim Robberecht Adriano Chio Cinzia Gellera Carsten Drepper Michael Sendtner Antonia Ratti Jonathan D Glass Jesús S Mora Nazli A Basak Orla Hardiman Albert C Ludolph Peter M Andersen Jochen H Weishaupt Robert H Brown Ammar Al-Chalabi Vincenzo Silani Christopher E Shaw Leonard H van den Berg Jan H Veldink John E Landers

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

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Authors:
Isabella Fogh Kuang Lin Cinzia Tiloca James Rooney Cinzia Gellera Frank P Diekstra Antonia Ratti Aleksey Shatunov Michael A van Es Petroula Proitsi Ashley Jones William Sproviero Adriano Chiò Russell Lewis McLaughlin Gianni Sorarù Lucia Corrado Daniel Stahl Roberto Del Bo Cristina Cereda Barbara Castellotti Jonathan D Glass Steven Newhouse Richard Dobson Bradley N Smith Simon Topp Wouter van Rheenen Vincent Meininger Judith Melki Karen E Morrison Pamela J Shaw P Nigel Leigh Peter M Andersen Giacomo P Comi Nicola Ticozzi Letizia Mazzini Sandra D'Alfonso Bryan J Traynor Philip Van Damme Wim Robberecht Robert H Brown John E Landers Orla Hardiman Cathryn M Lewis Leonard H van den Berg Christopher E Shaw Jan H Veldink Vincenzo Silani Ammar Al-Chalabi John Powell

JAMA Neurol 2016 07;73(7):812-20

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2016.1114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556366PMC
July 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Authors:
Kelly L Williams Simon Topp Shu Yang Bradley Smith Jennifer A Fifita Sadaf T Warraich Katharine Y Zhang Natalie Farrawell Caroline Vance Xun Hu Alessandra Chesi Claire S Leblond Albert Lee Stephanie L Rayner Vinod Sundaramoorthy Carol Dobson-Stone Mark P Molloy Marka van Blitterswijk Dennis W Dickson Ronald C Petersen Neill R Graff-Radford Bradley F Boeve Melissa E Murray Cyril Pottier Emily Don Claire Winnick Emily P McCann Alison Hogan Hussein Daoud Annie Levert Patrick A Dion Jun Mitsui Hiroyuki Ishiura Yuji Takahashi Jun Goto Jason Kost Cinzia Gellera Athina Soragia Gkazi Jack Miller Joanne Stockton William S Brooks Karyn Boundy Meraida Polak José Luis Muñoz-Blanco Jesús Esteban-Pérez Alberto Rábano Orla Hardiman Karen E Morrison Nicola Ticozzi Vincenzo Silani Jacqueline de Belleroche Jonathan D Glass John B J Kwok Gilles J Guillemin Roger S Chung Shoji Tsuji Robert H Brown Alberto García-Redondo Rosa Rademakers John E Landers Aaron D Gitler Guy A Rouleau Nicholas J Cole Justin J Yerbury Julie D Atkin Christopher E Shaw Garth A Nicholson Ian P Blair

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

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.

Authors:
Michael Niblock Bradley N Smith Youn-Bok Lee Valentina Sardone Simon Topp Claire Troakes Safa Al-Sarraj Claire S Leblond Patrick A Dion Guy A Rouleau Christopher E Shaw Jean-Marc Gallo

Acta Neuropathol Commun 2016 Feb 25;4:18. Epub 2016 Feb 25.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, London, SE5 9NU, UK.

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http://www.actaneurocomms.org/content/pdf/s40478-016-0289-4.
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http://link.springer.com/content/pdf/10.1186%2Fs40478-016-02
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http://actaneurocomms.biomedcentral.com/articles/10.1186/s40
Publisher Site
http://dx.doi.org/10.1186/s40478-016-0289-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766718PMC
February 2016

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

Authors:
Chun Hao Wong Simon Topp Athina Soragia Gkazi Claire Troakes Jack W Miller Martina de Majo Janine Kirby Pamela J Shaw Karen E Morrison Jacqueline de Belleroche Caroline A Vance Ammar Al-Chalabi Safa Al-Sarraj Christopher E Shaw Bradley N Smith

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

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

Authors:
Bradley N Smith Caroline Vance Emma L Scotter Claire Troakes Chun Hao Wong Simon Topp Satomi Maekawa Andrew King Jacqueline C Mitchell Karan Lund Ammar Al-Chalabi Nicola Ticozzi Vincenzo Silani Peter Sapp Robert H Brown John E Landers Safa Al-Sarraj Christopher E Shaw

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

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Authors:
Elizabeth T Cirulli Brittany N Lasseigne Slavé Petrovski Peter C Sapp Patrick A Dion Claire S Leblond Julien Couthouis Yi-Fan Lu Quanli Wang Brian J Krueger Zhong Ren Jonathan Keebler Yujun Han Shawn E Levy Braden E Boone Jack R Wimbish Lindsay L Waite Angela L Jones John P Carulli Aaron G Day-Williams John F Staropoli Winnie W Xin Alessandra Chesi Alya R Raphael Diane McKenna-Yasek Janet Cady J M B Vianney de Jong Kevin P Kenna Bradley N Smith Simon Topp Jack Miller Athina Gkazi Ammar Al-Chalabi Leonard H van den Berg Jan Veldink Vincenzo Silani Nicola Ticozzi Christopher E Shaw Robert H Baloh Stanley Appel Ericka Simpson Clotilde Lagier-Tourenne Stefan M Pulst Summer Gibson John Q Trojanowski Lauren Elman Leo McCluskey Murray Grossman Neil A Shneider Wendy K Chung John M Ravits Jonathan D Glass Katherine B Sims Vivianna M Van Deerlin Tom Maniatis Sebastian D Hayes Alban Ordureau Sharan Swarup John Landers Frank Baas Andrew S Allen Richard S Bedlack J Wade Harper Aaron D Gitler Guy A Rouleau Robert Brown Matthew B Harms Gregory M Cooper Tim Harris Richard M Myers David B Goldstein

Science 2015 Mar 19;347(6229):1436-41. Epub 2015 Feb 19.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.

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http://dx.doi.org/10.1126/science.aaa3650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437632PMC
March 2015

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

Authors:
Louisa Kent Thomas N Vizard Bradley N Smith Simon D Topp Caroline Vance Athina Gkazi Jack Miller Christopher E Shaw Kevin Talbot

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

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Authors:
Bradley N Smith Nicola Ticozzi Claudia Fallini Athina Soragia Gkazi Simon Topp Kevin P Kenna Emma L Scotter Jason Kost Pamela Keagle Jack W Miller Daniela Calini Caroline Vance Eric W Danielson Claire Troakes Cinzia Tiloca Safa Al-Sarraj Elizabeth A Lewis Andrew King Claudia Colombrita Viviana Pensato Barbara Castellotti Jacqueline de Belleroche Frank Baas Anneloor L M A ten Asbroek Peter C Sapp Diane McKenna-Yasek Russell L McLaughlin Meraida Polak Seneshaw Asress Jesús Esteban-Pérez José Luis Muñoz-Blanco Michael Simpson Wouter van Rheenen Frank P Diekstra Giuseppe Lauria Stefano Duga Stefania Corti Cristina Cereda Lucia Corrado Gianni Sorarù Karen E Morrison Kelly L Williams Garth A Nicholson Ian P Blair Patrick A Dion Claire S Leblond Guy A Rouleau Orla Hardiman Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Hardev Pall Pamela J Shaw Martin R Turner Kevin Talbot Franco Taroni Alberto García-Redondo Zheyang Wu Jonathan D Glass Cinzia Gellera Antonia Ratti Robert H Brown Vincenzo Silani Christopher E Shaw John E Landers

Neuron 2014 Oct 22;84(2):324-31. Epub 2014 Oct 22.

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.2014.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521390PMC
October 2014

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

Authors:
Hong Joo Kim Nam Chul Kim Yong-Dong Wang Emily A Scarborough Jennifer Moore Zamia Diaz Kyle S MacLea Brian Freibaum Songqing Li Amandine Molliex Anderson P Kanagaraj Robert Carter Kevin B Boylan Aleksandra M Wojtas Rosa Rademakers Jack L Pinkus Steven A Greenberg John Q Trojanowski Bryan J Traynor Bradley N Smith Simon Topp Athina-Soragia Gkazi Jack Miller Christopher E Shaw Michael Kottlors Janbernd Kirschner Alan Pestronk Yun R Li Alice Flynn Ford Aaron D Gitler Michael Benatar Oliver D King Virginia E Kimonis Eric D Ross Conrad C Weihl James Shorter J Paul Taylor

Nature 2013 Mar 3;495(7442):467-73. Epub 2013 Mar 3.

Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, Tennessee 38120, USA.

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http://dx.doi.org/10.1038/nature11922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756911PMC
March 2013

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Authors:
Bradley N Smith Stephen Newhouse Aleksey Shatunov Caroline Vance Simon Topp Lauren Johnson Jack Miller Younbok Lee Claire Troakes Kirsten M Scott Ashley Jones Ian Gray Jamie Wright Tibor Hortobágyi Safa Al-Sarraj Boris Rogelj John Powell Michelle Lupton Simon Lovestone Peter C Sapp Markus Weber Peter J Nestor Helenius J Schelhaas Anneloor Alm Ten Asbroek Vincenzo Silani Cinzia Gellera Franco Taroni Nicola Ticozzi Leonard Van den Berg Jan Veldink Phillip Van Damme Wim Robberecht Pamela J Shaw Janine Kirby Hardev Pall Karen E Morrison Alex Morris Jacqueline de Belleroche J M B Vianney de Jong Frank Baas Peter M Andersen John Landers Robert H Brown Michael E Weale Ammar Al-Chalabi Christopher E Shaw

Eur J Hum Genet 2013 Jan 13;21(1):102-8. Epub 2012 Jun 13.

Department of Clinical Neurosciences, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2012.98DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522204PMC
January 2013

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Authors:
Kreshnik B Ahmeti Senda Ajroud-Driss Ammar Al-Chalabi Peter M Andersen Jennifer Armstrong Anne Birve Hylke M Blauw Robert H Brown Lucie Bruijn Wenjie Chen Adriano Chio Mary C Comeau Simon Cronin Frank P Diekstra Athina Soraya Gkazi Jonathan D Glass Josh D Grab Ewout J Groen Jonathan L Haines Orla Hardiman Scott Heller Jie Huang Wu-Yen Hung James M Jaworski Ashley Jones Humaira Khan John E Landers Carl D Langefeld P Nigel Leigh Miranda C Marion Russell L McLaughlin Vincent Meininger Judith Melki Jack W Miller Gabriele Mora Margaret A Pericak-Vance Evadnie Rampersaud Wim Robberecht Laurie P Russell Francois Salachas Christiaan G Saris Aleksey Shatunov Christopher E Shaw Nailah Siddique Teepu Siddique Bradley N Smith Robert Sufit Simon Topp Bryan J Traynor Caroline Vance Philip van Damme Leonard H van den Berg Michael A van Es Paul W van Vught Jan H Veldink Yi Yang J G Zheng

Neurobiol Aging 2013 Jan 5;34(1):357.e7-19. Epub 2012 Sep 5.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839234PMC
January 2013

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

Authors:
Lauren Johnson Jack W Miller Athina Soragia Gkazi Caroline Vance Simon D Topp Stephen J Newhouse Ammar Al-Chalabi Bradley N Smith Christopher E Shaw

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.

Authors:
Jack W Miller Bradley N Smith Simon D Topp Ammar Al-Chalabi Christopher E Shaw Caroline Vance

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

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Authors:
Justin P Rubio Simon Topp Liling Warren Pamela L St Jean Daniel Wegmann Darren Kessner John Novembre Judong Shen Dana Fraser Jennifer Aponte Keith Nangle Lon R Cardon Margaret G Ehm Stephanie L Chissoe John C Whittaker Matthew R Nelson Vincent E Mooser

Hum Mutat 2012 Jul 4;33(7):1087-98. Epub 2012 Apr 4.

Quantitative Sciences, Research and Development, GlaxoSmithKline, Gunnels Wood Road, Stevenage, Hertfordshire, England, United Kingdom.

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http://dx.doi.org/10.1002/humu.22075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370131PMC
July 2012

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.

Authors:
Matthew R Nelson Daniel Wegmann Margaret G Ehm Darren Kessner Pamela St Jean Claudio Verzilli Judong Shen Zhengzheng Tang Silviu-Alin Bacanu Dana Fraser Liling Warren Jennifer Aponte Matthew Zawistowski Xiao Liu Hao Zhang Yong Zhang Jun Li Yun Li Li Li Peter Woollard Simon Topp Matthew D Hall Keith Nangle Jun Wang Gonçalo Abecasis Lon R Cardon Sebastian Zöllner John C Whittaker Stephanie L Chissoe John Novembre Vincent Mooser

Science 2012 Jul 17;337(6090):100-4. Epub 2012 May 17.

Department of Quantitative Sciences, GlaxoSmithKline (GSK), Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1126/science.1217876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319976PMC
July 2012

Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation.

Authors:
Liling L Warren Li Li Matthew R Nelson Margaret G Ehm Judong Shen Dana J Fraser Jennifer L Aponte Keith L Nangle Andrew J Slater Peter M Woollard Matt D Hall Simon D Topp Xin Yuan Lon R Cardon Stephanie L Chissoe Vincent Mooser Andrew D Morris Colin N A Palmer John R Perry Timothy M Frayling John C Whittaker Dawn M Waterworth

Diabetes 2012 May 8;61(5):1297-301. Epub 2012 Mar 8.

Quantitative Sciences, GlaxoSmithKline, Research Triangle Park, North Carolina, USA.

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http://dx.doi.org/10.2337/db11-0985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331741PMC
May 2012

The role of positive selection in determining the molecular cause of species differences in disease.

Authors:
Jessica J Vamathevan Samiul Hasan Richard D Emes Heather Amrine-Madsen Dilip Rajagopalan Simon D Topp Vinod Kumar Michael Word Mark D Simmons Steven M Foord Philippe Sanseau Ziheng Yang Joanna D Holbrook

BMC Evol Biol 2008 Oct 6;8:273. Epub 2008 Oct 6.

1Department of Biology, University College London, Darwin Bldg, Gower Street, London WC1E 6BT, UK.

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http://dx.doi.org/10.1186/1471-2148-8-273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2576240PMC
October 2008

Global cerebral blood flow and metabolism during acute hyperketonemia in the awake and anesthetized rat.

Authors:
Rasmus Linde Steen G Hasselbalch Simon Topp Olaf B Paulson Peter L Madsen

J Cereb Blood Flow Metab 2006 Feb;26(2):170-80

Neurobiology Research Unit 9201, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://journals.sagepub.com/doi/10.1038/sj.jcbfm.9600177
Publisher Site
http://dx.doi.org/10.1038/sj.jcbfm.9600177DOI Listing
February 2006

New methods for researching accessory proteins.

Authors:
Steven M Foord Simon D Topp Marco Abramo Joanna D Holbrook

J Mol Neurosci 2005 ;26(2-3):265-76

Bioinformatics, GlaxoSmithKline, Stevenage, Herts SG1 2NY, UK.

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http://dx.doi.org/10.1385/JMN:26:2-3:265DOI Listing
October 2005