Rosa Rademakers

Rosa Rademakers

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Rosa Rademakers

Rosa Rademakers

Publications by authors named "Rosa Rademakers"

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Gyrification abnormalities in presymptomatic expansion carriers.

J Neurol Neurosurg Psychiatry 2019 Sep 11;90(9):1005-1010. Epub 2019 May 11.

Neurology, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1136/jnnp-2018-320265DOI Listing
September 2019

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Authors:
Sven J van der Lee Olivia J Conway Iris Jansen Minerva M Carrasquillo Luca Kleineidam Erik van den Akker Isabel Hernández Kristel R van Eijk Najada Stringa Jason A Chen Anna Zettergren Till F M Andlauer Monica Diez-Fairen Javier Simon-Sanchez Alberto Lleó Henrik Zetterberg Marianne Nygaard Cornelis Blauwendraat Jeanne E Savage Jonas Mengel-From Sonia Moreno-Grau Michael Wagner Juan Fortea Michael J Keogh Kaj Blennow Ingmar Skoog Manuel A Friese Olga Pletnikova Miren Zulaica Carmen Lage Itziar de Rojas Steffi Riedel-Heller Ignacio Illán-Gala Wei Wei Bernard Jeune Adelina Orellana Florian Then Bergh Xue Wang Marc Hulsman Nina Beker Niccolo Tesi Christopher M Morris Begoña Indakoetxea Lyduine E Collij Martin Scherer Estrella Morenas-Rodríguez James W Ironside Bart N M van Berckel Daniel Alcolea Heinz Wiendl Samantha L Strickland Pau Pastor Eloy Rodríguez Rodríguez Bradley F Boeve Ronald C Petersen Tanis J Ferman Jay A van Gerpen Marcel J T Reinders Ryan J Uitti Lluís Tárraga Wolfgang Maier Oriol Dols-Icardo Amit Kawalia Maria Carolina Dalmasso Mercè Boada Uwe K Zettl Natasja M van Schoor Marian Beekman Mariet Allen Eliezer Masliah Adolfo López de Munain Alexander Pantelyat Zbigniew K Wszolek Owen A Ross Dennis W Dickson Neill R Graff-Radford David Knopman Rosa Rademakers Afina W Lemstra Yolande A L Pijnenburg Philip Scheltens Thomas Gasser Patrick F Chinnery Bernhard Hemmer Martijn A Huisman Juan Troncoso Fermin Moreno Ellen A Nohr Thorkild I A Sørensen Peter Heutink Pascual Sánchez-Juan Danielle Posthuma Jordi Clarimón Kaare Christensen Nilüfer Ertekin-Taner Sonja W Scholz Alfredo Ramirez Agustín Ruiz Eline Slagboom Wiesje M van der Flier Henne Holstege

Acta Neuropathol 2019 Aug 27;138(2):237-250. Epub 2019 May 27.

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02026-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660501PMC
August 2019

Frontal lobe H MR spectroscopy in asymptomatic and symptomatic mutation carriers.

Neurology 2019 Aug 17;93(8):e758-e765. Epub 2019 Jul 17.

From the Department of Radiology (Q.C., J.L.G., K.K.), Department of Neurology (B.F.B., C.D., L.F., D.G., J.G.-R., D.J., D.K., R.K.), Department of Health Sciences Research (N.T., T.L., D.B., J.S.), Department of Psychology and Psychiatry (J.F., M.L.), Department of Clinical Genomic and Neurology (R.G.), Alzheimer's Disease Research Center (B.F.B., D.B., C.D., L.F., D.G., J.G.-R., D.J., D.K., R.K., R.R., K.K.), and Research Services (D.H.), Mayo Clinic, Rochester, MN; Department of Neurology (Q.C.), West China Hospital of Sichuan University, Chengdu, Sichuan; Departments of Neurology (N.G.-R., Z.K.W.) and Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL; and Memory and Aging Center (H.R., A.L.B.), University of California San Francisco.

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http://dx.doi.org/10.1212/WNL.0000000000007961DOI Listing
August 2019

Revisiting the utility of TDP-43 immunoreactive (TDP-43-ir) pathology to classify FTLD-TDP subtypes.

Acta Neuropathol 2019 Jul 7;138(1):167-169. Epub 2019 May 7.

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

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http://dx.doi.org/10.1007/s00401-019-02024-wDOI 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

FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology.

J Neuropathol Exp Neurol 2019 Jul 30. Epub 2019 Jul 30.

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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http://dx.doi.org/10.1093/jnen/nlz059DOI 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

Clinicopathologic correlations in a family with a mutation presenting as primary progressive aphasia and primary lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Jun 27:1-8. Epub 2019 Jun 27.

a Division of Neuropathology , University of British Columbia , Vancouver , Canada.

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http://dx.doi.org/10.1080/21678421.2019.1632347DOI Listing
June 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
May 2019

CSF1R mutation presenting as dementia with Lewy bodies.

Neurocase 2019 Feb - Apr;25(1-2):17-20. Epub 2019 Apr 10.

a Department of Neurology , Mayo Clinic , Rochester , MN , USA.

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http://dx.doi.org/10.1080/13554794.2019.1601230DOI Listing
April 2019

Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers.

Neuroimage Clin 2019 16;22:101751. Epub 2019 Mar 16.

University of California, Memory and Aging Center, Department of Neurology, San Francisco, United States; University of California, Department of Pathology, San Francisco, United States.

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http://dx.doi.org/10.1016/j.nicl.2019.101751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438992PMC
March 2019

EIF2AK3 variants in Dutch patients with Alzheimer's disease.

Neurobiol Aging 2019 01 24;73:229.e11-229.e18. Epub 2018 Aug 24.

Alzheimer Center and Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands; Alzheimer Center, Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.08.016DOI Listing
January 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

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.

Mol Neurodegener 2018 06 22;13(1):32. Epub 2018 Jun 22.

Center for Neurodegeneration and Experimental Therapeutics, Alzheimer's Disease Center, Evelyn F. McKnight Brain Institute, Departments of Neurology and Neurobiology, University of Alabama at Birmingham, 1825 University Blvd., SHEL, Birmingham, AL, 1110, USA.

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http://dx.doi.org/10.1186/s13024-018-0264-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013889PMC
June 2018

Repeat expansions in myoclonic epilepsy.

Nat Genet 2018 04;50(4):477-478

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

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http://dx.doi.org/10.1038/s41588-018-0093-0DOI Listing
April 2018

Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations.

Mol Biol Cell 2018 03 27;29(5):575-586. Epub 2017 Dec 27.

Department of Neurology, Rocky Mountain Alzheimer's Disease Center, University of Colorado School of Medicine, Aurora, CO 80045

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http://dx.doi.org/10.1091/mbc.E17-01-0031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004587PMC
March 2018

In vivo F-AV-1451 tau PET signal in mutation carriers varies by expected tau isoforms.

Neurology 2018 03 9;90(11):e947-e954. Epub 2018 Feb 9.

From the Departments of Neurology (D.T.J., D.S.K., J.G.-R., C.D., R.C.P., B.F.B.), Radiology (D.T.J., C.G.S., K.K., C.R.J., V.J.L.), Health Sciences Research (J.A.S.), and Information Technology (M.L.S.), Mayo Clinic, Rochester, MN; and Departments of Neurology (Z.W.) and Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL.

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http://dx.doi.org/10.1212/WNL.0000000000005117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858948PMC
March 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

Unaffected mosaic case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.

Neurology 2018 01 27;90(4):e323-e331. Epub 2017 Dec 27.

From the Tanz Centre for Research in Neurodegenerative Diseases (P.M., M.Z., C.S., D.M., S.X., A.B.Z., P.M.M., A.W., R.S., J.R., E.R.), Department of Medicine (L.Z., E.R.), Division of Neurology, and Department of Laboratory Medicine and Pathobiology (J.R.), University of Toronto, Ontario, Canada; Department of Neuroscience (M.v.B., L.P., R.R.), Mayo Clinic, Jacksonville, FL; and Sunnybrook Health Sciences Centre (J.K., L.Z.), Toronto, Ontario, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000004865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798652PMC
January 2018

Three VCP Mutations in Patients with Frontotemporal Dementia.

J Alzheimers Dis 2018 ;65(4):1139-1146

Alzheimer center and Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.3233/JAD-180301DOI Listing
January 2018

TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections.

Brain 2017 12;140(12):3069-3080

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

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http://dx.doi.org/10.1093/brain/awx318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841148PMC
December 2017

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome.

Neurol Genet 2017 Dec 11;3(6):e201. Epub 2017 Dec 11.

Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733247PMC
December 2017

Network degeneration and dysfunction in presymptomatic expansion carriers.

Neuroimage Clin 2017 10;14:286-297. Epub 2016 Dec 10.

University of California, San Francisco, Memory and Aging Center, Department of Neurology, 675 Nelson Rising Lane, MC:1207, San Francisco, CA 94158, USA; University of California, San Francisco, Department of Pathology, 675 Nelson Rising Lane, Suite 140, MC:1207, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1016/j.nicl.2016.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5349617PMC
November 2017

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy.

Parkinsonism Relat Disord 2017 11 30;44:151-153. Epub 2017 Aug 30.

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

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http://dx.doi.org/10.1016/j.parkreldis.2017.08.027DOI Listing
November 2017

Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration.

J Neuropathol Exp Neurol 2017 Nov;76(11):957-968

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois; Laboratory of Gene Therapy, Department of Biochemistry, College of Life Sciences, Shaanxi Normal University, Xi'an, Shaanxi, P.R. China; The Cognitive Neurology and Alzheimer Disease Center, Northwestern University Feinberg School of Medicine, Chicago, Illinois; Pathology Core Facility, Robert H. Lurie Comprehensive Cancer Center, Northwestern University School of Medicine, Chicago, Illinois; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida.

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http://dx.doi.org/10.1093/jnen/nlx085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5939662PMC
November 2017

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency.

Cell Rep 2017 Sep;20(11):2565-2574

Center for Translational Neurodegeneration Research, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.08.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757843PMC
September 2017

Abnormal expression of homeobox genes and transthyretin in expansion carriers.

Neurol Genet 2017 Aug 7;3(4):e161. Epub 2017 Jun 7.

Department of Neuroscience (N.A.F., M.C.B., T.F.G., K.F.B., M.D.-H., P.H.B., J.C., K.R.J.-W., L.M.D., A.M.N., M.E.M., L.P., D.W.D., R.R., M.v.B.), Department of Health Sciences Research (X.W., Y.W.A.), Department of Neurology (N.R.G.-R., K.B.B.), Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., M.B.), University of Miami, FL; Department of Neurology (K.A.J., J.E.P., D.S.K., R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; and Divisions of Neurology and Neurobiology (R.B.), Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479438PMC
August 2017

Brain calcifications and variants.

Neurol Genet 2017 Aug 26;3(4):e166. Epub 2017 Jul 26.

Department of Genetics and CNR-MAJ (G.N., A.-C.R., O.Q.), Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, France; Department of Human Genetics (G.N.), Genome Research, Radboud UMC, Nijmegen, The Netherlands; Department of Neuroscience (M.S.-C., D.W.D., R.R.), Mayo Clinic, Jacksonville, FL; Department of Psychiatry (E.M.R., A.R.L., A.L., G.C., D.H.G.), Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles; Keizo Asami Laboratory (R.R.L., J.F., D.M., J.R.M.d.O), Federal University of Pernambuco, Recife, Brazil; Fundación Pública Galega de Medicina Xenómica (M.J.S.), Clinical University Hospital of Santiago de Compostela-SERGAS, Spain; Centre National de Recherche en Génomique Humaine (CNRGH) (J.-F.D., A.B.), Institut de Biologie François Jacob, CEA, Evry; Department of Neurology (P.K.), Amiens University Hospital; Department of Neurology (P.F.), Tenon Hospital, AP-HP, Paris, France; Medical Genetics MRI Unit (R.S., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (R.S., E.L.-L.); and Neuropsychiatry Department (J.R.M.d.O), Universidade Federal de Pernambuco, Recife, Brazil.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
Publisher Site
http://dx.doi.org/10.1212/NXG.0000000000000166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5530423PMC
August 2017

Poly(GP) proteins are a useful pharmacodynamic marker for -associated amyotrophic lateral sclerosis.

Sci Transl Med 2017 03;9(383)

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

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http://dx.doi.org/10.1126/scitranslmed.aai7866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576451PMC
March 2017

Dementia Research-A Roadmap for the Next Decade.

JAMA Neurol 2017 02;74(2):141-142

Department of Neuroscience, Mayo Clinic Florida, Jacksonville.

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http://dx.doi.org/10.1001/jamaneurol.2016.5004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808979PMC
February 2017

Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture.

Neurol Neuroimmunol Neuroinflamm 2016 Dec 28;3(6):e301. Epub 2016 Oct 28.

Memory and Aging Center (Z.A.M., V.E.S., A.K., J.S.Y., L.T.G., A.L.B., H.J.R., K.P.R., M.L.G.-T., W.W.S., B.L.M.) and Department of Pathology (L.T.G., W.W.S.), University of California, San Francisco; Departments of Neurology (G.B.C., N.R.G.-R.) and Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (G.C., D.H.G.), David Geffen School of Medicine, University of California, Los Angeles, CA.

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http://dx.doi.org/10.1212/NXI.0000000000000301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087253PMC
December 2016

Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals.

Exp Gerontol 2016 11 7;84:96-100. Epub 2016 Sep 7.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Biomedicine, Aarhus University, Aarhus, Denmark; The Lundbeck Foundation Research Center, MIND, Aarhus, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.exger.2016.09.002DOI Listing
November 2016

Modifiers of LRRK2 parkinsonism: new therapeutic targets.

Lancet Neurol 2016 11 28;15(12):1200-1201. Epub 2016 Sep 28.

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

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http://dx.doi.org/10.1016/S1474-4422(16)30243-5DOI Listing
November 2016

What we know about TMEM106B in neurodegeneration.

Acta Neuropathol 2016 11 20;132(5):639-651. Epub 2016 Aug 20.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074873PMC
http://dx.doi.org/10.1007/s00401-016-1610-9DOI Listing
November 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

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

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

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

Genetics of FTLD: overview and what else we can expect from genetic studies.

J Neurochem 2016 08;138 Suppl 1:32-53

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

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http://dx.doi.org/10.1111/jnc.13622DOI Listing
August 2016

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies.

Neurol Genet 2016 Aug 14;2(4):e85. Epub 2016 Jul 14.

Department of Neuroscience (R.L.W., A.I.S.-O., M.E.M., O.L.-B., K.O., S.R., R.R., N.E.-T., D.W.D., O.A.R., C.L.), Division of Biomedical Statistics and Informatics (M.G.H.), Department of Neurology (N.E.-T., R.J.U., J.A.v.G., Z.K.W., N.R.G.-R.), Department of Psychiatry and Psychology (T.J.F., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Biology (A.I.S.-O., O.A.R.), University of North Florida, Jacksonville; Department of Psychiatry and Psychology (G.E.S.), Department of Radiology (K.K., V.J.L., D.T.J.), Department of Laboratory Medicine and Pathology (J.E.P., B.F.B.), Department of Neurology (J.E.P., D.T.J., R.S., J.G.-R., D.S.K., R.C.P.), Mayo Clinic, Rochester, MN; Department of Clinical and Health Psychology (G.E.S.), University of Florida, Gainesville; and Mayo Graduate School (T.J.F., O.A.R.), Neurobiology of Disease, Jacksonville, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946771PMC
August 2016

Tremor in progressive supranuclear palsy.

Parkinsonism Relat Disord 2016 06 22;27:93-7. Epub 2016 Mar 22.

Department of Neuropathology, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887294PMC
June 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

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

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

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

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.

Exp Neurol 2016 Mar 31;277:171-177. Epub 2015 Dec 31.

Center for Therapeutic Innovation, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Psychiatry & Behavioral Sciences, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2015.12.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761318PMC
March 2016

Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome.

Neurology 2016 Mar 12;86(12):1164-6. Epub 2016 Feb 12.

From the University of Cincinnati (F.R.-P., L.L., M.C.H., A.J.E.), OH; Mayo Clinic Jacksonville (R.R., T.R.), FL; and Indiana University School of Medicine (B.G.), Indianapolis.

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http://www.neurology.org/content/early/2016/02/12/WNL.000000
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http://dx.doi.org/10.1212/WNL.0000000000002491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820130PMC
March 2016

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport.

Nat Rev Neurol 2015 Dec 3;11(12):670-2. Epub 2015 Nov 3.

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

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http://dx.doi.org/10.1038/nrneurol.2015.219DOI Listing
December 2015