Publications by authors named "Sara Rollinson"

63Publications

CRISPR/Cas9 does not facilitate stable expression of long C9orf72 dipeptides in mice.

Neurobiol Aging 2019 12 24;84:235.e1-235.e8. Epub 2019 Sep 24.

Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.09.010DOI Listing
December 2019

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Authors:
Cyril Pottier Yingxue Ren Ralph B Perkerson Matt Baker Gregory D Jenkins Marka van Blitterswijk Mariely DeJesus-Hernandez Jeroen G J van Rooij Melissa E Murray Elizabeth Christopher Shannon K McDonnell Zachary Fogarty Anthony Batzler Shulan Tian Cristina T Vicente Billie Matchett Anna M Karydas Ging-Yuek Robin Hsiung Harro Seelaar Merel O Mol Elizabeth C Finger Caroline Graff Linn Öijerstedt Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Johannes Prudlo Patrizia Rizzu Javier Simon-Sanchez Dieter Edbauer Sigrun Roeber Janine Diehl-Schmid Bret M Evers Andrew King M Marsel Mesulam Sandra Weintraub Changiz Geula Kevin F Bieniek Leonard Petrucelli Geoffrey L Ahern Eric M Reiman Bryan K Woodruff Richard J Caselli Edward D Huey Martin R Farlow Jordan Grafman Simon Mead Lea T Grinberg Salvatore Spina Murray Grossman David J Irwin Edward B Lee EunRan Suh Julie Snowden David Mann Nilufer Ertekin-Taner Ryan J Uitti Zbigniew K Wszolek Keith A Josephs Joseph E Parisi David S Knopman Ronald C Petersen John R Hodges Olivier Piguet Ethan G Geier Jennifer S Yokoyama Robert A Rissman Ekaterina Rogaeva Julia Keith Lorne Zinman Maria Carmela Tartaglia Nigel J Cairns Carlos Cruchaga Bernardino Ghetti Julia Kofler Oscar L Lopez Thomas G Beach Thomas Arzberger Jochen Herms Lawrence S Honig Jean Paul Vonsattel Glenda M Halliday John B Kwok Charles L White Marla Gearing Jonathan Glass Sara Rollinson Stuart Pickering-Brown Jonathan D Rohrer John Q Trojanowski Vivianna Van Deerlin Eileen H Bigio Claire Troakes Safa Al-Sarraj Yan Asmann Bruce L Miller Neill R Graff-Radford Bradley F Boeve William W Seeley Ian R A Mackenzie John C van Swieten Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Acta Neuropathol 2019 06 9;137(6):879-899. Epub 2019 Feb 9.

Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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http://link.springer.com/10.1007/s00401-019-01962-9
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http://dx.doi.org/10.1007/s00401-019-01962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533145PMC
June 2019

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.

Brain 2018 10;141(10):2895-2907

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1093/brain/awy238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158742PMC
October 2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 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

Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies.

Amyotroph Lateral Scler Frontotemporal Degener 2018 02 2;19(1-2):102-111. Epub 2017 Aug 2.

a Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health , University of Manchester, Salford Royal Hospital , Salford , UK.

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http://dx.doi.org/10.1080/21678421.2017.1359304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836993PMC
February 2018

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration.

Acta Neuropathol Commun 2017 06 30;5(1):54. Epub 2017 Jun 30.

Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Salford Royal Hospital, M6 8HD, Salford, UK.

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http://dx.doi.org/10.1186/s40478-017-0454-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493127PMC
June 2017

Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.

Hum Mol Genet 2016 12;25(23):5069-5082

Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, University of Manchester, AV Hill Building, Oxford Road, Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddw327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886041PMC
December 2016

Identification of biological pathways regulated by PGRN and GRN peptide treatments using transcriptome analysis.

Eur J Neurosci 2016 09 9;44(5):2214-25. Epub 2016 Jul 9.

Institute of Brain Behaviour and Mental Health, University of Manchester, AV Hill Building, Ackers Street, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1111/ejn.13297DOI Listing
September 2016

Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy.

Acta Neuropathol Commun 2016 Mar 31;4:33. Epub 2016 Mar 31.

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, M6 8HD, UK.

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http://dx.doi.org/10.1186/s40478-016-0301-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818389PMC
March 2016

Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.

Amyotroph Lateral Scler Frontotemporal Degener 2015 16;16(7-8):497-505. Epub 2015 Oct 16.

b Institute of Brain, Behaviour and Mental Health, Faculty of Human and Medical Sciences, University of Manchester , Manchester , UK.

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http://dx.doi.org/10.3109/21678421.2015.1074700DOI Listing
August 2016

Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation.

J Neurol Neurosurg Psychiatry 2016 07 17;87(7):793-5. Epub 2015 Jul 17.

Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jnnp-2015-311311DOI Listing
July 2016

Psychosis associated with expansions in the C9orf72 gene: the influence of a 10 base pair gene deletion.

J Neurol Neurosurg Psychiatry 2016 May 2;87(5):562-3. Epub 2015 Apr 2.

Faculty of Human and Medical Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jnnp-2015-310441DOI Listing
May 2016

Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

Neurobiol Aging 2015 Mar 12;36(3):1601.e1-5. Epub 2014 Dec 12.

Faculty of Human and Medical Sciences, Institute of Brain Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353501PMC
March 2015

Plasma levels of progranulin and interleukin-6 in frontotemporal lobar degeneration.

Neurobiol Aging 2015 Mar 18;36(3):1603.e1-4. Epub 2014 Oct 18.

Faculty of Human and Medical Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK; Cerebral Function Unit, Department of Neurology, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.10.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504979PMC
March 2015

p62/SQSTM1 analysis in frontotemporal lobar degeneration.

Neurobiol Aging 2015 Mar 18;36(3):1603.e5-9. Epub 2014 Oct 18.

Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.035DOI Listing
March 2015

TREM2 analysis and increased risk of Alzheimer's disease.

Neurobiol Aging 2015 Jan 27;36(1):546.e9-13. Epub 2014 Aug 27.

Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.001DOI Listing
January 2015

UBQLN2 variant of unknown significance in frontotemporal lobar degeneration.

Neurobiol Aging 2015 Jan 6;36(1):546.e15-6. Epub 2014 Aug 6.

Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.002DOI Listing
January 2015

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Acta Neuropathol Commun 2014 Jun 20;2:70. Epub 2014 Jun 20.

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford M6 8HD, UK.

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http://dx.doi.org/10.1186/2051-5960-2-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229740PMC
June 2014

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors:
Raffaele Ferrari Dena G Hernandez Michael A Nalls Jonathan D Rohrer Adaikalavan Ramasamy John B J Kwok Carol Dobson-Stone William S Brooks Peter R Schofield Glenda M Halliday John R Hodges Olivier Piguet Lauren Bartley Elizabeth Thompson Eric Haan Isabel Hernández Agustín Ruiz Mercè Boada Barbara Borroni Alessandro Padovani Carlos Cruchaga Nigel J Cairns Luisa Benussi Giuliano Binetti Roberta Ghidoni Gianluigi Forloni Daniela Galimberti Chiara Fenoglio Maria Serpente Elio Scarpini Jordi Clarimón Alberto Lleó Rafael Blesa Maria Landqvist Waldö Karin Nilsson Christer Nilsson Ian R A Mackenzie Ging-Yuek R Hsiung David M A Mann Jordan Grafman Christopher M Morris Johannes Attems Timothy D Griffiths Ian G McKeith Alan J Thomas P Pietrini Edward D Huey Eric M Wassermann Atik Baborie Evelyn Jaros Michael C Tierney Pau Pastor Cristina Razquin Sara Ortega-Cubero Elena Alonso Robert Perneczky Janine Diehl-Schmid Panagiotis Alexopoulos Alexander Kurz Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Ekaterina Rogaeva Peter St George-Hyslop Giacomina Rossi Fabrizio Tagliavini Giorgio Giaccone James B Rowe Johannes C M Schlachetzki James Uphill John Collinge Simon Mead Adrian Danek Vivianna M Van Deerlin Murray Grossman John Q Trojanowski Julie van der Zee William Deschamps Tim Van Langenhove Marc Cruts Christine Van Broeckhoven Stefano F Cappa Isabelle Le Ber Didier Hannequin Véronique Golfier Martine Vercelletto Alexis Brice Benedetta Nacmias Sandro Sorbi Silvia Bagnoli Irene Piaceri Jørgen E Nielsen Lena E Hjermind Matthias Riemenschneider Manuel Mayhaus Bernd Ibach Gilles Gasparoni Sabrina Pichler Wei Gu Martin N Rossor Nick C Fox Jason D Warren Maria Grazia Spillantini Huw R Morris Patrizia Rizzu Peter Heutink Julie S Snowden Sara Rollinson Anna Richardson Alexander Gerhard Amalia C Bruni Raffaele Maletta Francesca Frangipane Chiara Cupidi Livia Bernardi Maria Anfossi Maura Gallo Maria Elena Conidi Nicoletta Smirne Rosa Rademakers Matt Baker Dennis W Dickson Neill R Graff-Radford Ronald C Petersen David Knopman Keith A Josephs Bradley F Boeve Joseph E Parisi William W Seeley Bruce L Miller Anna M Karydas Howard Rosen John C van Swieten Elise G P Dopper Harro Seelaar Yolande A L Pijnenburg Philip Scheltens Giancarlo Logroscino Rosa Capozzo Valeria Novelli Annibale A Puca Massimo Franceschi Alfredo Postiglione Graziella Milan Paolo Sorrentino Mark Kristiansen Huei-Hsin Chiang Caroline Graff Florence Pasquier Adeline Rollin Vincent Deramecourt Florence Lebert Dimitrios Kapogiannis Luigi Ferrucci Stuart Pickering-Brown Andrew B Singleton John Hardy Parastoo Momeni

Lancet Neurol 2014 Jul;13(7):686-99

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70065-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126PMC
July 2014

No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease.

Neuropathol Appl Neurobiol 2014 Dec;40(7):844-54

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford.

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http://doi.wiley.com/10.1111/nan.12155
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http://dx.doi.org/10.1111/nan.12155DOI Listing
December 2014

Histone deacetylases (HDACs) in frontotemporal lobar degeneration.

Neuropathol Appl Neurobiol 2015 Feb;41(2):245-57

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, UK.

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http://dx.doi.org/10.1111/nan.12153DOI Listing
February 2015

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Acta Neuropathol Commun 2013 Oct 14;1:68. Epub 2013 Oct 14.

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford M6 8HD, UK.

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http://dx.doi.org/10.1186/2051-5960-1-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893586PMC
October 2013

Patterns of microglial cell activation in frontotemporal lobar degeneration.

Neuropathol Appl Neurobiol 2014 Oct;40(6):686-96

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, UK.

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http://dx.doi.org/10.1111/nan.12092DOI Listing
October 2014

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Apr 19;14(3):172-6. Epub 2013 Feb 19.

Manchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford, UK.

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http://dx.doi.org/10.3109/21678421.2013.765485DOI Listing
April 2013

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.

Neurobiol Aging 2012 Aug 10;33(8):1846.e5-6. Epub 2012 Mar 10.

Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, AV Hill Building, Oxford Road, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.01.109DOI Listing
August 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sorting.

Curr Biol 2011 Jul 14;21(14):1245-50. Epub 2011 Jul 14.

Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1016/j.cub.2011.06.028DOI Listing
July 2011

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis.

Neurobiol Aging 2011 Apr 22;32(4):758.e1-7. Epub 2011 Jan 22.

Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, AV, Hill Building, Oxford Road, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2010.12.005DOI Listing
April 2011

Analysis of optineurin in frontotemporal lobar degeneration.

Neurobiol Aging 2012 Feb 12;33(2):425.e1-2. Epub 2010 Nov 12.

Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2010.10.002DOI Listing
February 2012

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.

Neurobiol Aging 2011 Apr 14;32(4):754-5. Epub 2009 May 14.

Clinical Neurosciences Research Group, Faculty of Human and Medical Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.04.009DOI Listing
April 2011

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.

Brain 2008 Mar 11;131(Pt 3):721-31. Epub 2008 Jan 11.

Clinical Neuroscience Research Group, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1093/brain/awm331DOI Listing
March 2008

The genetics of frontotemporal lobar degeneration.

Curr Opin Neurol 2007 Dec;20(6):693-8

Clinical Neurosciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1097/WCO.0b013e3282f1c961DOI Listing
December 2007

TDP-43 gene analysis in frontotemporal lobar degeneration.

Neurosci Lett 2007 May 24;419(1):1-4. Epub 2007 Mar 24.

Division of Regenerative Medicine, Department of Medicine, University of Manchester, Oxford Road, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1016/j.neulet.2007.03.044DOI Listing
May 2007

Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphoma.

Leuk Lymphoma 2006 Dec;47(12):2567-83

Division of Laboratory and Regenerative Medicine, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1080/10428190600909743DOI Listing
December 2006

RAD51 homologous recombination repair gene haplotypes and risk of acute myeloid leukaemia.

Leuk Res 2007 Feb 4;31(2):169-74. Epub 2006 Aug 4.

Division of Laboratory and Regenerative Medicine, Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, United Kingdom.

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http://dx.doi.org/10.1016/j.leukres.2006.05.028DOI Listing
February 2007

t(3;14)(p14;q32) results in aberrant expression of FOXP1 in a case of diffuse large B-cell lymphoma.

Genes Chromosomes Cancer 2006 Feb;45(2):164-8

Department of Haematological Oncology, University of Leeds, United Kingdom.

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http://dx.doi.org/10.1002/gcc.20278DOI Listing
February 2006

Polymorphisms in cytochrome P450 17A1 and risk of non-Hodgkin lymphoma.

Br J Haematol 2005 Jun;129(5):618-21

Division of Environmental Health Sciences, School of Public Health, 140 Earl Warren Hall, University of California, Berkeley, CA 94720-7360, USA.

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http://dx.doi.org/10.1111/j.1365-2141.2005.05505.xDOI Listing
June 2005

Haplotypes in the tumour necrosis factor region and myeloma.

Br J Haematol 2005 May;129(3):358-65

Section of Haemato-Oncology, Institute for Cancer Research, Royal Marsden Hospital, London, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2005.05467.xDOI Listing
May 2005

Application of DNA pooling to large studies of disease.

Stat Med 2004 Dec;23(24):3841-50

Department of Health Sciences, Epidemiology and Genetics Unit, University of York, UK.

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http://dx.doi.org/10.1002/sim.1996DOI Listing
December 2004

High-throughput association testing on DNA pools to identify genetic variants that confer susceptibility to acute myeloid leukemia.

Cancer Epidemiol Biomarkers Prev 2004 May;13(5):795-800

Leukaemia Research Fund Epidemiology and Genetics Unit, School of Medicine, University of Leeds, United Kingdom.

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May 2004

An intron splice acceptor polymorphism in hMSH2 and risk of leukemia after treatment with chemotherapeutic alkylating agents.

Clin Cancer Res 2003 Aug;9(8):3012-20

Leukaemia Research Fund Epidemiology and Genetics Unit, Academic Unit of Epidemiology, School of Medicine, University of Leeds, Leeds LS2 9JT, United Kingdom.

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August 2003

Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia.

Cancer Res 2003 Aug;63(15):4327-30

Leukaemia Research Fund, Epidemiology and Genetics Unit, School of Medicine, University of Leeds, Leeds LS2 9JT, United Kingdom.

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August 2003

Polymorphic variation in GSTP1 modulates outcome following therapy for multiple myeloma.

Blood 2003 Oct 5;102(7):2345-50. Epub 2003 Jun 5.

Academic Unit of Hematology and Oncology, University of Leeds, United Kingdom.

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http://dx.doi.org/10.1182/blood-2003-02-0444DOI Listing
October 2003

Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia.

Blood 2002 May;99(10):3786-91

NFCR Center for Genomics and Nutrition, School of Public Health, and the Department of Nutritional Sciences, University of California, Berkeley, CA 94720-7360, USA.

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http://dx.doi.org/10.1182/blood.v99.10.3786DOI Listing
May 2002

Mutations of the AML1 gene in acute myeloid leukemia of FAB types M0 and M7.

Genes Chromosomes Cancer 2002 May;34(1):24-32

Department of Haematology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/gcc.10031DOI Listing
May 2002