Ian R Mackenzie

Ian R Mackenzie

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Ian R Mackenzie

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Subcortical TDP-43 pathology patterns validate cortical FTLD-TDP subtypes and demonstrate unique aspects of C9orf72 mutation cases.

Acta Neuropathol 2019 Sep 9. Epub 2019 Sep 9.

Department of Neuropathology, German Center for Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00401-019-02070-4DOI Listing
September 2019

Drusen in the Peripheral Retina of the Alzheimer's Eye.

Curr Alzheimer Res 2018 ;15(8):743-750

Department of Ophthalmology, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.2174/1567205015666180123122637DOI Listing
July 2019

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration.

Alzheimers Dement 2019 Jul 1. Epub 2019 Jul 1.

Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco CA, USA.

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http://dx.doi.org/10.1016/j.jalz.2019.04.007DOI Listing
July 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 Jun 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 mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations.

Mitochondrion 2019 05 13;46:298-301. Epub 2018 Aug 13.

Department of Pathology and Laboratory Medicine, The University of British Columbia, Canada; Adult Metabolic Diseases Clinic, Vancouver General Hospital, The University of British Columbia, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249173035
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http://dx.doi.org/10.1016/j.mito.2018.08.002DOI Listing
May 2019

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint.

Alzheimers Dement 2019 May 11. Epub 2019 May 11.

Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15525260193004
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http://dx.doi.org/10.1016/j.jalz.2019.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842665PMC
May 2019

Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia.

Ann Neurol 2018 11;84(5):729-740

Alzheimer center Amsterdam, Amsterdam UMC, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.25333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354051PMC
November 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

Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.

Am J Psychiatry 2018 05;175(5):400-407

From the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Department of Neurology, Geisinger Health System, Wilkes-Barre, Pa.; Translational Neuroscience, Conshohocken, Pa.; the Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston; the Department of Pathology and Laboratory Medicine and the Department of Psychiatry, University of British Columbia, Vancouver; and the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm.

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http://dx.doi.org/10.1176/appi.ajp.2017.17060638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935124PMC
May 2018

Fused in Sarcoma Neuropathology in Neurodegenerative Disease.

Cold Spring Harb Perspect Med 2017 Dec 1;7(12). Epub 2017 Dec 1.

Department of Neuropathology, University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.

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http://dx.doi.org/10.1101/cshperspect.a024299DOI Listing
December 2017

Spinal cord homogenates from SOD1 familial amyotrophic lateral sclerosis induce SOD1 aggregation in living cells.

PLoS One 2017 6;12(9):e0184384. Epub 2017 Sep 6.

Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, British Columbia, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0184384PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587256PMC
October 2017

Reappraisal of TDP-43 pathology in FTLD-U subtypes.

Acta Neuropathol 2017 07 2;134(1):79-96. Epub 2017 May 2.

Department of Neuropathology, DZNE, German Center for Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00401-017-1716-8DOI Listing
July 2017

Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG).

J Neuropathol Exp Neurol 2017 Jul;76(7):605-619

Institute of Neurology, Medical University of Vienna, Vienna, Austria; Center for Neurodegenerative Disease Research, Institute on Aging and Department of Pathology and Laboratory Medicine of the Perelman School of Medicine at the University of Pennsylvania; and Department of Biostatistics and Epidemiology; and Department of Neurosurgery, Center for Brain Injury and Repair, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK; Department of Neuropathology, Institute of Pathology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Northwestern University Feinberg School of Medicine, Northwestern ADC Neuropathology Core, Chicago, Illinois; Clinical Neuropathology, King's College Hospital and London Neurodegenerative Brain Bank, London, UK; Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland; University of California San Francisco, Institute for Neurodegenerative Diseases, San Francisco, California; Neuropathology Department, Hôpital de La Salpetrière, AP-HP, UPMC-Sorbonne-University, Paris, France; Institute of Neuropathology, Bellvitge University Hospital, University of Barcelona, CIBERNED, Hospitalet de Llobregat, Barcelona, Spain; Discipline of Pathology, Sydney Medical School, The University of Sydney, Sydney, Australia; Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Institut d'Investigacions Biomediques Pi i, Barcelona, Spain; Department of Medicine, Imperial College London, London, UK; IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy; Memory and Aging Center, Department of Neurology, University of California, San Francisco, California; Department of Pathology, University of Sao Paulo Medical School, LIM, São Paulo, Brazil; Brain & Mind Centre, Sydney Medical School, The University of Sydney, and UNSW Medicine & NeuRA, Sydney, Australia; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas; Fishberg Department of Neuroscience, Friedman Brain Institute, and Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuropathology, John Radcliffe Hospital, Oxford, UK; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania; Department of Mental Health and Psychiatry, University Hospitals and University of Geneva School of Medicine, Geneva, Switzerland; Institute of Clinical Neurosciences, University of Bristol, Learning & Research Level 2, Southmead Hospital, Bristol, UK; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada; Department of Pathology and Molecular Medicine, Thomayer Hospital, Prague, Czech Republic; Department of Pathology, First Medical Faculty, Charles University, Prague, Czech Republic; Department of Anatomical Pathology, Alfred Hospital , Prahran, Victoria, Australia; Division of Pathology, St. Michael's Hospital, Toronto, Ontario, Canada; Department of Pathology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, Kentucky; Physiopathology in Aging Lab/Brazilian Aging Brain Study Group-LIM22, University of Sao Paulo Medical School, Sao Paulo, Brazil; Behavioral and Cognitive Neurology Unit, Department of Neurology, University of São Paulo , São Paulo, Brazil; Netherlands Brainbank, Amsterdam and Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands; Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan; Institute of Neuroanatomy, Centre for Biomedicine and Medical Technology Mannheim, Medical Faculty Mannheim, Heidelberg University, Heidelberg, Germany; Department of Neurodegenerative Diseases and Gerontopsychiatry at the University of Bonn Medical Center, Bonn, Germany; Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan; Department of Neurology, Saitama Medical University International Medical Center, Saitama, Japan; Department of Neuroscience, Katholieke Universiteit-Leuven; and Department of Pathology, Universitaire Ziekenhuizen-Leuven, Leuven, Belgium; Laboratory of Neuropathology, Department of Pathology and Neuropathology, Kepler University Hospital, Medical School, Johannes Kepler University, Linz, Austria; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK; and Department of Pathology and Laboratory Medicine, Centre for Cancer Therapeutics, Ottawa Hospital Research Institute, University of Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1093/jnen/nlx041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251511PMC
July 2017

An Unusual Case of Rabies Encephalitis.

Can J Neurol Sci 2016 Nov 31;43(6):852-855. Epub 2016 Aug 31.

3Department of Pathology and Laboratory Medicine,Vancouver Coastal Health and the University of British Columbia,Vancouver,Canada.

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http://dx.doi.org/10.1017/cjn.2016.287DOI Listing
November 2016

Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition.

EMBO Rep 2016 09 26;17(9):1314-25. Epub 2016 Jul 26.

Biomedical Center (BMC), Ludwig-Maximilians-University Munich, Munich, Germany German Center for Neurodegenerative Diseases (DZNE), Munich, Germany Munich Cluster for System Neurology (SyNergy), Munich, Germany

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http://dx.doi.org/10.15252/embr.201541724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007570PMC
September 2016

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies.

J Neurochem 2016 08 15;138 Suppl 1:54-70. Epub 2016 Jun 15.

Department of Neuropathology, University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

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http://dx.doi.org/10.1111/jnc.13588DOI Listing
August 2016

Two cases of rheumatoid meningitis.

Neuropathology 2016 Feb 8;36(1):93-102. Epub 2015 Sep 8.

Section of Neuropathology, Department of Pathology and Laboratory Medicine.

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http://dx.doi.org/10.1111/neup.12238DOI Listing
February 2016

Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy.

Acta Neuropathol 2016 Jan 10;131(1):87-102. Epub 2015 Dec 10.

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

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http://dx.doi.org/10.1007/s00401-015-1509-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879001PMC
January 2016

Rabies encephalitis.

Radiographics 2015 Jan-Feb;35(1):235-8

From the Departments of Radiology (S.J.C., J.R.S.) and Pathology (I.R.M.), University of British Columbia, 3350-950 W 10th Ave, Vancouver, BC, Canada V5Z 4E3.

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http://dx.doi.org/10.1148/rg.351140035DOI Listing
December 2015

Early neuropsychological characteristics of progranulin mutation carriers.

J Int Neuropsychol Soc 2014 Aug 4;20(7):694-703. Epub 2014 Jul 4.

5Department of Pathology,University of British Columbia,Vancouver,British Columbia,Canada.

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http://dx.doi.org/10.1017/S1355617714000551DOI Listing
August 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

Frontotemporal lobar degeneration: current perspectives.

Neuropsychiatr Dis Treat 2014 13;10:297-310. Epub 2014 Feb 13.

Center for Cognitive Disorders, Department of Psychiatry and Psychotherapy, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.2147/NDT.S38706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928059PMC
June 2014

The neuropathology associated with repeat expansions in the C9ORF72 gene.

Acta Neuropathol 2014 Mar 20;127(3):347-57. Epub 2013 Dec 20.

Department of Pathology, University of British Columbia and Vancouver General Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1007/s00401-013-1232-4DOI Listing
March 2014

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability.

Acta Neuropathol 2014 Mar 21;127(3):451-8. Epub 2014 Jan 21.

Department of Neurology, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK,

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http://dx.doi.org/10.1007/s00401-014-1245-7DOI Listing
March 2014

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

Acta Neuropathol 2013 Dec 6;126(6):859-79. Epub 2013 Oct 6.

Department of Pathology, Vancouver General Hospital, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1007/s00401-013-1181-yDOI Listing
December 2013

Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers.

Neurology 2013 Oct 4;81(15):1322-31. Epub 2013 Sep 4.

From the Division of Neurology, Department of Medicine (C.J., G.-Y.R.H., I.T., H.L., P.S., P.B.-K., A.J.S., H.H.F.), Department of Physics and Astronomy (K.D., S.M., M.G., V.S.), and Department of Pathology and Laboratory Medicine (I.R.M.), University of British Columbia, Vancouver, Canada; and Department of Neuroscience (M.B., R.R.), Mayo Clinic, Jacksonville, FL.

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http://dx.doi.org/10.1212/WNL.0b013e3182a8237eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806924PMC
October 2013

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

Neurology 2013 Oct 11;81(15):1332-41. Epub 2013 Sep 11.

From the Departments of Neuroscience (M.v.B., M.C.B., M.D.-H., M.E.M., N.J.R., P.E.B., T.R., B.M., P.E.A.A., K.F.B., L.P., D.W.D., R.R.) and Neurology (Z.K.W., K.B.B., N.R.G.-R.), Mayo Clinic, Jacksonville, FL; Proteomics Unit and NeuroBioGen Lab-Memory Clinic (R.G., L.B., G.B.), IRCCS Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy; Department of Clinical Neurological Sciences (E.F., M.J.S.), Schulich School of Medicine and Dentistry, The University of Western Ontario, London, Canada; Division of Neurology (G.-Y.R.H.), and Department of Pathology and Laboratory Medicine (I.R.M.), University of British Columbia, Vancouver, Canada; Department of Neurology (B.J.K., D.S.K., R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; Department of Pathology and Alzheimer's Disease Center (K.J.H., C.L.W.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (A.K., B.L.M.), University of California, San Francisco; Center for Neurodegenerative Disease Research (E.M.W., V.M.V.D.), Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia; Department of Neurology (G.C., D.H.G.), The David Geffen School of Medicine at University of California, Los Angeles; Cognitive Neurology & Alzheimer Disease Center (E.H.B., M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Neurology (C.L.), Drexel University College of Medicine, Philadelphia, PA; Molecular Brain Research Group (M.J.S.), Robarts Research Institute, London, Canada; Banner Sun Health Research Institute (T.G.B.), Sun City, AZ; Cognitive Neuroscience Section (E.D.H.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Psychiatry and Neurology (E.D.H.), Columbia University, New York; and Department of Neurology (T.B.), University of Washington School of Medicine, Seattle.

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http://dx.doi.org/10.1212/WNL.0b013e3182a8250cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806926PMC
October 2013

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.

Nat Neurosci 2013 Oct 15;16(10):1383-91. Epub 2013 Sep 15.

1] Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA. [3].

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http://dx.doi.org/10.1038/nn.3514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564396PMC
October 2013

Angiotropism in primary cutaneous melanoma with brain metastasis: a study of 20 cases.

Am J Dermatopathol 2013 Aug;35(6):650-4

Department of Pathology and Laboratory Medicine, Vancouver General Hospital and University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1097/DAD.0b013e31827e8315ADDOI Listing
August 2013

Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects.

Acta Neuropathol 2012 Sep 10;124(3):373-82. Epub 2012 Aug 10.

Neuroscience Research Australia, University of New South Wales, Sydney, Australia.

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http://dx.doi.org/10.1007/s00401-012-1030-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445027PMC
September 2012

Advances in understanding the molecular basis of frontotemporal dementia.

Nat Rev Neurol 2012 Aug 26;8(8):423-34. Epub 2012 Jun 26.

Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1038/nrneurol.2012.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629543PMC
August 2012

FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis.

Brain Res 2012 Jun 13;1462:40-3. Epub 2011 Dec 13.

Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, Canada V5Z 1M9.

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http://dx.doi.org/10.1016/j.brainres.2011.12.010DOI Listing
June 2012

Synaptic dysfunction in progranulin-deficient mice.

Neurobiol Dis 2012 Feb 25;45(2):711-22. Epub 2011 Oct 25.

Centre for Molecular Medicine & Therapeutics, Department of Medical Genetics, University of British Columbia, and Children's and Women's Hospital, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4.

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http://dx.doi.org/10.1016/j.nbd.2011.10.016DOI Listing
February 2012

Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43.

J Mol Neurosci 2011 Nov 21;45(3):402-8. Epub 2011 May 21.

Department of Pathology and Laboratory Medicine, University of British Columbia and Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, V5Z 1M9, Canada.

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http://dx.doi.org/10.1007/s12031-011-9551-1DOI Listing
November 2011

Sterol regulatory element binding protein-1 (SREBP1) activation in motor neurons in excitotoxicity and amyotrophic lateral sclerosis (ALS): Indip, a potential therapeutic peptide.

Biochem Biophys Res Commun 2011 Sep 19;413(2):159-63. Epub 2011 Aug 19.

Brain Research Centre, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1016/j.bbrc.2011.08.011DOI Listing
September 2011

Neuropathological background of phenotypical variability in frontotemporal dementia.

Acta Neuropathol 2011 Aug 26;122(2):137-53. Epub 2011 May 26.

Behavioral Neurology and Movement Disorders, Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

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http://link.springer.com/10.1007/s00401-011-0839-6
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http://dx.doi.org/10.1007/s00401-011-0839-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232515PMC
August 2011

Distinct pathological subtypes of FTLD-FUS.

Acta Neuropathol 2011 Feb 30;121(2):207-18. Epub 2010 Oct 30.

Department of Pathology, Vancouver General Hospital, University of British Columbia, BC, Canada.

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http://link.springer.com/10.1007/s00401-010-0764-0
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http://dx.doi.org/10.1007/s00401-010-0764-0DOI Listing
February 2011

rs5848 polymorphism and serum progranulin level.

J Neurol Sci 2011 Jan 2;300(1-2):28-32. Epub 2010 Nov 2.

Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1016/j.jns.2010.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085023PMC
January 2011

Differentiating the frontal variant of Alzheimer's disease.

Int J Geriatr Psychiatry 2010 Jul;25(7):732-8

Aged and Residential Care, Heidelberg Repatriation Hospital, Heidelberg West, Australia.

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http://dx.doi.org/10.1002/gps.2415DOI Listing
July 2010

FUS-immunoreactive intranuclear inclusions in neurodegenerative disease.

Brain Pathol 2010 May 21;20(3):589-97. Epub 2009 Sep 21.

Cancer Therapeutics Group, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1111/j.1750-3639.2009.00337.xDOI Listing
May 2010

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Authors:
Vivianna M Van Deerlin Patrick M A Sleiman Maria Martinez-Lage Alice Chen-Plotkin Li-San Wang Neill R Graff-Radford Dennis W Dickson Rosa Rademakers Bradley F Boeve Murray Grossman Steven E Arnold David M A Mann Stuart M Pickering-Brown Harro Seelaar Peter Heutink John C van Swieten Jill R Murrell Bernardino Ghetti Salvatore Spina Jordan Grafman John Hodges Maria Grazia Spillantini Sid Gilman Andrew P Lieberman Jeffrey A Kaye Randall L Woltjer Eileen H Bigio Marsel Mesulam Safa Al-Sarraj Claire Troakes Roger N Rosenberg Charles L White Isidro Ferrer Albert Lladó Manuela Neumann Hans A Kretzschmar Christine Marie Hulette Kathleen A Welsh-Bohmer Bruce L Miller Ainhoa Alzualde Adolfo Lopez de Munain Ann C McKee Marla Gearing Allan I Levey James J Lah John Hardy Jonathan D Rohrer Tammaryn Lashley Ian R A Mackenzie Howard H Feldman Ronald L Hamilton Steven T Dekosky Julie van der Zee Samir Kumar-Singh Christine Van Broeckhoven Richard Mayeux Jean Paul G Vonsattel Juan C Troncoso Jillian J Kril John B J Kwok Glenda M Halliday Thomas D Bird Paul G Ince Pamela J Shaw Nigel J Cairns John C Morris Catriona Ann McLean Charles DeCarli William G Ellis Stefanie H Freeman Matthew P Frosch John H Growdon Daniel P Perl Mary Sano David A Bennett Julie A Schneider Thomas G Beach Eric M Reiman Bryan K Woodruff Jeffrey Cummings Harry V Vinters Carol A Miller Helena C Chui Irina Alafuzoff Päivi Hartikainen Danielle Seilhean Douglas Galasko Eliezer Masliah Carl W Cotman M Teresa Tuñón M Cristina Caballero Martínez David G Munoz Steven L Carroll Daniel Marson Peter F Riederer Nenad Bogdanovic Gerard D Schellenberg Hakon Hakonarson John Q Trojanowski Virginia M-Y Lee

Nat Genet 2010 Mar 14;42(3):234-9. Epub 2010 Feb 14.

[1] Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. [2] These authors contributed equally to this work.

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http://dx.doi.org/10.1038/ng.536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828525PMC
March 2010

FUS pathology in basophilic inclusion body disease.

Acta Neuropathol 2009 Nov 15;118(5):617-27. Epub 2009 Oct 15.

Division of Pathology, Department of Laboratory Medicine and Pathobiology, Room # 2-097 Cardinal Carter, St. Michael's Hospital, University of Toronto, 30 Bond Street, Toronto, ON M5B 1W8, Canada.

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http://dx.doi.org/10.1007/s00401-009-0598-9DOI Listing
November 2009