Publications by authors named "Benedetta Nacmias"

100Publications

, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts.

Authors:
Beatrice Costa Claudia Manzoni Manuel Bernal-Quiros Demis A Kia Miquel Aguilar Ignacio Alvarez Victoria Alvarez Ole Andreassen Maria Anfossi Silvia Bagnoli Luisa Benussi Livia Bernardi Giuliano Binetti Daniel Blackburn Mercè Boada Barbara Borroni Lucy Bowns Geir Bråthen Amalia C Bruni Huei-Hsin Chiang Jordi Clarimon Shuna Colville Maria E Conidi Tom E Cope Carlos Cruchaga Chiara Cupidi Maria Elena Di Battista Janine Diehl-Schmid Monica Diez-Fairen Oriol Dols-Icardo Elisabetta Durante Dušan Flisar Francesca Frangipane Daniela Galimberti Maura Gallo Maurizio Gallucci Roberta Ghidoni Caroline Graff Jordan H Grafman Murray Grossman John Hardy Isabel Hernández Guy Jt Holloway Edward D Huey Ignacio Illán-Gala Anna Karydas Behzad Khoshnood Milica G Kramberger Mark Kristiansen Patrick A Lewis Alberto Lleó Gaganjit K Madhan Raffaele Maletta Aleš Maver Manuel Menendez-Gonzalez Graziella Milan Bruce Miller Merel O Mol Parastoo Momeni Sonia Moreno-Grau Chris M Morris Benedetta Nacmias Christer Nilsson Valeria Novelli Linn Öijerstedt Alessandro Padovani Suvankar Pal Yasmin Panchbhaya Pau Pastor Borut Peterlin Irene Piaceri Stuart Pickering-Brown Yolande Al Pijnenburg Annibale A Puca Innocenzo Rainero Antonella Rendina Anna Mt Richardson Ekaterina Rogaeva Boris Rogelj Sara Rollinson Giacomina Rossi Carola Rossmeier James B Rowe Elisa Rubino Agustín Ruiz Raquel Sanchez-Valle Sigrid B Sando Alexander F Santillo Jennifer Saxon Elio Scarpini Maria Serpente Nicoletta Smirne Sandro Sorbi EunRan Suh Fabrizio Tagliavini Jennifer C Thompson John Q Trojanowski Vivianna M Van Deerlin Julie Van der Zee Christine Van Broeckhoven Jeroen van Rooij John C Van Swieten Arianna Veronesi Emilia Vitale Maria L Waldö Cathy Woodward Jennifer Yokoyama Valentina Escott-Price James M Polke Raffaele Ferrari

Neurology 2020 Sep 17. Epub 2020 Sep 17.

University College London, Institute of Neurology, London, UK

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http://dx.doi.org/10.1212/WNL.0000000000010914DOI Listing
September 2020

Tumor Necrosis Factor α Influences Phenotypic Plasticity and Promotes Epigenetic Changes in Human Basal Forebrain Cholinergic Neuroblasts.

Int J Mol Sci 2020 Aug 25;21(17). Epub 2020 Aug 25.

Section of Human Anatomy and Histology, Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy.

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http://dx.doi.org/10.3390/ijms21176128DOI Listing
August 2020

Challenges in Alzheimer's Disease Diagnostic Work-Up: Amyloid Biomarker Incongruences.

J Alzheimers Dis 2020 ;77(1):203-217

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.3233/JAD-200119DOI Listing
January 2020

Early functional MRI changes in a prodromal semantic variant of primary progressive aphasia: a longitudinal case report.

J Neurol 2020 Oct 10;267(10):3100-3104. Epub 2020 Jul 10.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-020-10053-9DOI Listing
October 2020

Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies.

Stem Cell Reports 2020 07 25;15(1):256-273. Epub 2020 Jun 25.

iPSC Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund SE-221 84, Sweden; Strategic Research Area MultiPark, Lund University, Lund SE-221 84, Sweden; Lund Stem Cell Center, Lund University, Lund SE-221 84, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2020.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363942PMC
July 2020

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.

Authors:
Melissa A Munn-Chernoff Emma C Johnson Yi-Ling Chou Jonathan R I Coleman Laura M Thornton Raymond K Walters Zeynep Yilmaz Jessica H Baker Christopher Hübel Scott Gordon Sarah E Medland Hunna J Watson Héléna A Gaspar Julien Bryois Anke Hinney Virpi M Leppä Manuel Mattheisen Stephan Ripke Shuyang Yao Paola Giusti-Rodríguez Ken B Hanscombe Roger A H Adan Lars Alfredsson Tetsuya Ando Ole A Andreassen Wade H Berrettini Ilka Boehm Claudette Boni Vesna Boraska Perica Katharina Buehren Roland Burghardt Matteo Cassina Sven Cichon Maurizio Clementi Roger D Cone Philippe Courtet Scott Crow James J Crowley Unna N Danner Oliver S P Davis Martina de Zwaan George Dedoussis Daniela Degortes Janiece E DeSocio Danielle M Dick Dimitris Dikeos Christian Dina Monika Dmitrzak-Weglarz Elisa Docampo Laramie E Duncan Karin Egberts Stefan Ehrlich Geòrgia Escaramís Tõnu Esko Xavier Estivill Anne Farmer Angela Favaro Fernando Fernández-Aranda Manfred M Fichter Krista Fischer Manuel Föcker Lenka Foretova Andreas J Forstner Monica Forzan Christopher S Franklin Steven Gallinger Ina Giegling Johanna Giuranna Fragiskos Gonidakis Philip Gorwood Monica Gratacos Mayora Sébastien Guillaume Yiran Guo Hakon Hakonarson Konstantinos Hatzikotoulas Joanna Hauser Johannes Hebebrand Sietske G Helder Stefan Herms Beate Herpertz-Dahlmann Wolfgang Herzog Laura M Huckins James I Hudson Hartmut Imgart Hidetoshi Inoko Vladimir Janout Susana Jiménez-Murcia Antonio Julià Gursharan Kalsi Deborah Kaminská Leila Karhunen Andreas Karwautz Martien J H Kas James L Kennedy Anna Keski-Rahkonen Kirsty Kiezebrink Youl-Ri Kim Kelly L Klump Gun Peggy S Knudsen Maria C La Via Stephanie Le Hellard Robert D Levitan Dong Li Lisa Lilenfeld Bochao Danae Lin Jolanta Lissowska Jurjen Luykx Pierre J Magistretti Mario Maj Katrin Mannik Sara Marsal Christian R Marshall Morten Mattingsdal Sara McDevitt Peter McGuffin Andres Metspalu Ingrid Meulenbelt Nadia Micali Karen Mitchell Alessio Maria Monteleone Palmiero Monteleone Benedetta Nacmias Marie Navratilova Ioanna Ntalla Julie K O'Toole Roel A Ophoff Leonid Padyukov Aarno Palotie Jacques Pantel Hana Papezova Dalila Pinto Raquel Rabionet Anu Raevuori Nicolas Ramoz Ted Reichborn-Kjennerud Valdo Ricca Samuli Ripatti Franziska Ritschel Marion Roberts Alessandro Rotondo Dan Rujescu Filip Rybakowski Paolo Santonastaso André Scherag Stephen W Scherer Ulrike Schmidt Nicholas J Schork Alexandra Schosser Jochen Seitz Lenka Slachtova P Eline Slagboom Margarita C T Slof-Op't Landt Agnieszka Slopien Sandro Sorbi Beata Świątkowska Jin P Szatkiewicz Ioanna Tachmazidou Elena Tenconi Alfonso Tortorella Federica Tozzi Janet Treasure Artemis Tsitsika Marta Tyszkiewicz-Nwafor Konstantinos Tziouvas Annemarie A van Elburg Eric F van Furth Gudrun Wagner Esther Walton Elisabeth Widen Eleftheria Zeggini Stephanie Zerwas Stephan Zipfel Andrew W Bergen Joseph M Boden Harry Brandt Steven Crawford Katherine A Halmi L John Horwood Craig Johnson Allan S Kaplan Walter H Kaye James Mitchell Catherine M Olsen John F Pearson Nancy L Pedersen Michael Strober Thomas Werge David C Whiteman D Blake Woodside Jakob Grove Anjali K Henders Janne T Larsen Richard Parker Liselotte V Petersen Jennifer Jordan Martin A Kennedy Andreas Birgegård Paul Lichtenstein Claes Norring Mikael Landén Preben Bo Mortensen Renato Polimanti Jeanette N McClintick Amy E Adkins Fazil Aliev Silviu-Alin Bacanu Anthony Batzler Sarah Bertelsen Joanna M Biernacka Tim B Bigdeli Li-Shiun Chen Toni-Kim Clarke Franziska Degenhardt Anna R Docherty Alexis C Edwards Jerome C Foo Louis Fox Josef Frank Laura M Hack Annette M Hartmann Sarah M Hartz Stefanie Heilmann-Heimbach Colin Hodgkinson Per Hoffmann Jouke-Jan Hottenga Bettina Konte Jari Lahti Marius Lahti-Pulkkinen Dongbing Lai Lannie Ligthart Anu Loukola Brion S Maher Hamdi Mbarek Andrew M McIntosh Matthew B McQueen Jacquelyn L Meyers Yuri Milaneschi Teemu Palviainen Roseann E Peterson Euijung Ryu Nancy L Saccone Jessica E Salvatore Sandra Sanchez-Roige Melanie Schwandt Richard Sherva Fabian Streit Jana Strohmaier Nathaniel Thomas Jen-Chyong Wang Bradley T Webb Robbee Wedow Leah Wetherill Amanda G Wills Hang Zhou Jason D Boardman Danfeng Chen Doo-Sup Choi William E Copeland Robert C Culverhouse Norbert Dahmen Louisa Degenhardt Benjamin W Domingue Mark A Frye Wolfgang Gäebel Caroline Hayward Marcus Ising Margaret Keyes Falk Kiefer Gabriele Koller John Kramer Samuel Kuperman Susanne Lucae Michael T Lynskey Wolfgang Maier Karl Mann Satu Männistö Bertram Müller-Myhsok Alison D Murray John I Nurnberger Ulrich Preuss Katri Räikkönen Maureen D Reynolds Monika Ridinger Norbert Scherbaum Marc A Schuckit Michael Soyka Jens Treutlein Stephanie H Witt Norbert Wodarz Peter Zill Daniel E Adkins Dorret I Boomsma Laura J Bierut Sandra A Brown Kathleen K Bucholz E Jane Costello Harriet de Wit Nancy Diazgranados Johan G Eriksson Lindsay A Farrer Tatiana M Foroud Nathan A Gillespie Alison M Goate David Goldman Richard A Grucza Dana B Hancock Kathleen Mullan Harris Victor Hesselbrock John K Hewitt Christian J Hopfer William G Iacono Eric O Johnson Victor M Karpyak Kenneth S Kendler Henry R Kranzler Kenneth Krauter Penelope A Lind Matt McGue James MacKillop Pamela A F Madden Hermine H Maes Patrik K E Magnusson Elliot C Nelson Markus M Nöthen Abraham A Palmer Brenda W J H Penninx Bernice Porjesz John P Rice Marcella Rietschel Brien P Riley Richard J Rose Pei-Hong Shen Judy Silberg Michael C Stallings Ralph E Tarter Michael M Vanyukov Scott Vrieze Tamara L Wall John B Whitfield Hongyu Zhao Benjamin M Neale Tracey D Wade Andrew C Heath Grant W Montgomery Nicholas G Martin Patrick F Sullivan Jaakko Kaprio Gerome Breen Joel Gelernter Howard J Edenberg Cynthia M Bulik Arpana Agrawal

Addict Biol 2020 Feb 16:e12880. Epub 2020 Feb 16.

Department of Psychiatry, Washington University School of Medicine, Saint Louis, Missouri, USA.

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http://dx.doi.org/10.1111/adb.12880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429266PMC
February 2020

A case of limbic encephalitis evolving into a frontotemporal dementia-like picture.

Psychogeriatrics 2020 05 27;20(3):355-357. Epub 2019 Dec 27.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/psyg.12503DOI Listing
May 2020

Cerebrospinal fluid biomarkers for dementia: A case of post-lumbar puncture epidural hematoma.

Clin Neurol Neurosurg 2020 03 9;190:105638. Epub 2019 Dec 9.

Neurology Unit, Careggi University Hospital, Florence, Italy; IRCSS Don Carlo Gnocchi, University Of Florence, Florence, Italy.

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http://dx.doi.org/10.1016/j.clineuro.2019.105638DOI Listing
March 2020

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Authors:
Katrina M Moore Jennifer Nicholas Murray Grossman Corey T McMillan David J Irwin Lauren Massimo Vivianna M Van Deerlin Jason D Warren Nick C Fox Martin N Rossor Simon Mead Martina Bocchetta Bradley F Boeve David S Knopman Neill R Graff-Radford Leah K Forsberg Rosa Rademakers Zbigniew K Wszolek John C van Swieten Lize C Jiskoot Lieke H Meeter Elise Gp Dopper Janne M Papma Julie S Snowden Jennifer Saxon Matthew Jones Stuart Pickering-Brown Isabelle Le Ber Agnès Camuzat Alexis Brice Paola Caroppo Roberta Ghidoni Michela Pievani Luisa Benussi Giuliano Binetti Bradford C Dickerson Diane Lucente Samantha Krivensky Caroline Graff Linn Öijerstedt Marie Fallström Håkan Thonberg Nupur Ghoshal John C Morris Barbara Borroni Alberto Benussi Alessandro Padovani Daniela Galimberti Elio Scarpini Giorgio G Fumagalli Ian R Mackenzie Ging-Yuek R Hsiung Pheth Sengdy Adam L Boxer Howie Rosen Joanne B Taylor Matthis Synofzik Carlo Wilke Patricia Sulzer John R Hodges Glenda Halliday John Kwok Raquel Sanchez-Valle Albert Lladó Sergi Borrego-Ecija Isabel Santana Maria Rosário Almeida Miguel Tábuas-Pereira Fermin Moreno Myriam Barandiaran Begoña Indakoetxea Johannes Levin Adrian Danek James B Rowe Thomas E Cope Markus Otto Sarah Anderl-Straub Alexandre de Mendonça Carolina Maruta Mario Masellis Sandra E Black Philippe Couratier Geraldine Lautrette Edward D Huey Sandro Sorbi Benedetta Nacmias Robert Laforce Marie-Pier L Tremblay Rik Vandenberghe Philip Van Damme Emily J Rogalski Sandra Weintraub Alexander Gerhard Chiadi U Onyike Simon Ducharme Sokratis G Papageorgiou Adeline Su Lyn Ng Amy Brodtmann Elizabeth Finger Rita Guerreiro Jose Bras Jonathan D Rohrer

Lancet Neurol 2020 02 3;19(2):145-156. Epub 2019 Dec 3.

Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(19)30394-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007771PMC
February 2020

High Frequency of Crossed Aphasia in Dextral in an Italian Cohort of Patients with Logopenic Primary Progressive Aphasia.

J Alzheimers Dis 2019 ;72(4):1089-1096

Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

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http://dx.doi.org/10.3233/JAD-190677DOI Listing
January 2019

The implication of BDNF Val66Met polymorphism in progression from subjective cognitive decline to mild cognitive impairment and Alzheimer's disease: a 9-year follow-up study.

Eur Arch Psychiatry Clin Neurosci 2020 Jun 27;270(4):471-482. Epub 2019 Sep 27.

Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Azienda Ospedaliero-Universitaria Careggi. Largo Brambilla, 3, 50134, Florence, Italy.

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http://dx.doi.org/10.1007/s00406-019-01069-yDOI Listing
June 2020

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 Sep;51(9):1423-1424

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0495-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7265117PMC
September 2019

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Authors:
Hunna J Watson Zeynep Yilmaz Laura M Thornton Christopher Hübel Jonathan R I Coleman Héléna A Gaspar Julien Bryois Anke Hinney Virpi M Leppä Manuel Mattheisen Sarah E Medland Stephan Ripke Shuyang Yao Paola Giusti-Rodríguez Ken B Hanscombe Kirstin L Purves Roger A H Adan Lars Alfredsson Tetsuya Ando Ole A Andreassen Jessica H Baker Wade H Berrettini Ilka Boehm Claudette Boni Vesna Boraska Perica Katharina Buehren Roland Burghardt Matteo Cassina Sven Cichon Maurizio Clementi Roger D Cone Philippe Courtet Scott Crow James J Crowley Unna N Danner Oliver S P Davis Martina de Zwaan George Dedoussis Daniela Degortes Janiece E DeSocio Danielle M Dick Dimitris Dikeos Christian Dina Monika Dmitrzak-Weglarz Elisa Docampo Laramie E Duncan Karin Egberts Stefan Ehrlich Geòrgia Escaramís Tõnu Esko Xavier Estivill Anne Farmer Angela Favaro Fernando Fernández-Aranda Manfred M Fichter Krista Fischer Manuel Föcker Lenka Foretova Andreas J Forstner Monica Forzan Christopher S Franklin Steven Gallinger Ina Giegling Johanna Giuranna Fragiskos Gonidakis Philip Gorwood Monica Gratacos Mayora Sébastien Guillaume Yiran Guo Hakon Hakonarson Konstantinos Hatzikotoulas Joanna Hauser Johannes Hebebrand Sietske G Helder Stefan Herms Beate Herpertz-Dahlmann Wolfgang Herzog Laura M Huckins James I Hudson Hartmut Imgart Hidetoshi Inoko Vladimir Janout Susana Jiménez-Murcia Antonio Julià Gursharan Kalsi Deborah Kaminská Jaakko Kaprio Leila Karhunen Andreas Karwautz Martien J H Kas James L Kennedy Anna Keski-Rahkonen Kirsty Kiezebrink Youl-Ri Kim Lars Klareskog Kelly L Klump Gun Peggy S Knudsen Maria C La Via Stephanie Le Hellard Robert D Levitan Dong Li Lisa Lilenfeld Bochao Danae Lin Jolanta Lissowska Jurjen Luykx Pierre J Magistretti Mario Maj Katrin Mannik Sara Marsal Christian R Marshall Morten Mattingsdal Sara McDevitt Peter McGuffin Andres Metspalu Ingrid Meulenbelt Nadia Micali Karen Mitchell Alessio Maria Monteleone Palmiero Monteleone Melissa A Munn-Chernoff Benedetta Nacmias Marie Navratilova Ioanna Ntalla Julie K O'Toole Roel A Ophoff Leonid Padyukov Aarno Palotie Jacques Pantel Hana Papezova Dalila Pinto Raquel Rabionet Anu Raevuori Nicolas Ramoz Ted Reichborn-Kjennerud Valdo Ricca Samuli Ripatti Franziska Ritschel Marion Roberts Alessandro Rotondo Dan Rujescu Filip Rybakowski Paolo Santonastaso André Scherag Stephen W Scherer Ulrike Schmidt Nicholas J Schork Alexandra Schosser Jochen Seitz Lenka Slachtova P Eline Slagboom Margarita C T Slof-Op 't Landt Agnieszka Slopien Sandro Sorbi Beata Świątkowska Jin P Szatkiewicz Ioanna Tachmazidou Elena Tenconi Alfonso Tortorella Federica Tozzi Janet Treasure Artemis Tsitsika Marta Tyszkiewicz-Nwafor Konstantinos Tziouvas Annemarie A van Elburg Eric F van Furth Gudrun Wagner Esther Walton Elisabeth Widen Eleftheria Zeggini Stephanie Zerwas Stephan Zipfel Andrew W Bergen Joseph M Boden Harry Brandt Steven Crawford Katherine A Halmi L John Horwood Craig Johnson Allan S Kaplan Walter H Kaye James E Mitchell Catherine M Olsen John F Pearson Nancy L Pedersen Michael Strober Thomas Werge David C Whiteman D Blake Woodside Garret D Stuber Scott Gordon Jakob Grove Anjali K Henders Anders Juréus Katherine M Kirk Janne T Larsen Richard Parker Liselotte Petersen Jennifer Jordan Martin Kennedy Grant W Montgomery Tracey D Wade Andreas Birgegård Paul Lichtenstein Claes Norring Mikael Landén Nicholas G Martin Preben Bo Mortensen Patrick F Sullivan Gerome Breen Cynthia M Bulik

Nat Genet 2019 08 15;51(8):1207-1214. Epub 2019 Jul 15.

Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/s41588-019-0439-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6779477PMC
August 2019

KIBRA T allele influences memory performance and progression of cognitive decline: a 7-year follow-up study in subjective cognitive decline and mild cognitive impairment.

Neurol Sci 2019 Aug 5;40(8):1559-1566. Epub 2019 Apr 5.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1007/s10072-019-03866-8DOI Listing
August 2019

Crossed aphasia confirmed by fMRI in a case with nonfluent variant of primary progressive aphasia carrying a GRN mutation.

J Neurol 2019 May 29;266(5):1274-1279. Epub 2019 Mar 29.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina, 60, 20132, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-019-09298-wDOI Listing
May 2019

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

Primary Progressive Aphasia: Natural History in an Italian Cohort.

Alzheimer Dis Assoc Disord 2019 Jan-Mar;33(1):42-46

Departments of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA).

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http://dx.doi.org/10.1097/WAD.0000000000000282DOI Listing
March 2020

The dual role of cognitive reserve in subjective cognitive decline and mild cognitive impairment: a 7-year follow-up study.

J Neurol 2019 Feb 2;266(2):487-497. Epub 2019 Jan 2.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Azienda Ospedaliero-Universitaria Careggi, Largo Brambilla, 3, 50134, Florence, Italy.

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http://dx.doi.org/10.1007/s00415-018-9164-5DOI Listing
February 2019

Contribution of Bilingualism to Cognitive Reserve of an Italian Literature Professor at High Risk for Alzheimer's Disease.

J Alzheimers Dis 2018 ;66(4):1389-1395

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.3233/JAD-180736DOI Listing
November 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

Crossed aphasia in nonfluent variant of primary progressive aphasia carrying a GRN mutation.

J Neurol Sci 2018 09 30;392:34-37. Epub 2018 Jun 30.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Azienda Ospedaliero-Universitaria Careggi, Largo Brambilla 3, 50134 Florence, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X183028
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http://dx.doi.org/10.1016/j.jns.2018.06.026DOI Listing
September 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

Biomarkers study in atypical dementia: proof of a diagnostic work-up.

Neurol Sci 2018 Jul 13;39(7):1203-1210. Epub 2018 Apr 13.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, viale Pieraccini 6, 50139, Florence, Italy.

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http://dx.doi.org/10.1007/s10072-018-3400-8DOI Listing
July 2018

Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.

J Alzheimers Dis 2018 ;62(4):1683-1689

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Italy.

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http://dx.doi.org/10.3233/JAD-170989DOI Listing
May 2019

The diagnosis of dementias: a practical tool not to miss rare causes.

Neurol Sci 2018 Apr 2;39(4):615-627. Epub 2017 Dec 2.

IRCCS Don Gnocchi, Via di Scandicci, Florence, Italy.

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http://dx.doi.org/10.1007/s10072-017-3206-0DOI Listing
April 2018

Genetic Heterogeneity of Alzheimer's Disease: Embracing Research Partnerships.

J Alzheimers Dis 2018 ;62(3):903-911

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.3233/JAD-170570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870047PMC
April 2019

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold Claudia L Satizabal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A Brody Liming Qu Pascual Sánchez-Juan Taniesha Morgan Frank J Wolters Yi Zhao Florentino Sanchez Garcia Nicola Denning Myriam Fornage John Malamon Maria Candida Deniz Naranjo Elisa Majounie Thomas H Mosley Beth Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno-Grau Jeremy D Burgess Vincenzo Solfrizzi Petra Proitsi Hieab H Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi Riedel-Heller Valur Emilsson Duane Beekly Anne Braae Reinhold Schmidt Deborah Blacker Carlo Masullo Helena Schmidt Rachelle S Doody Gianfranco Spalletta W T Longstreth Thomas J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska Makrina Daniilidou James Uphill Yogen Patel Joseph T Hughes Jenny Lord James Turton Annette M Hartmann Roberta Cecchetti Chiara Fenoglio Maria Serpente Marina Arcaro Carlo Caltagirone Maria Donata Orfei Antonio Ciaramella Sabrina Pichler Manuel Mayhaus Wei Gu Alberto Lleó Juan Fortea Rafael Blesa Imelda S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin Liana G Apostolova Steven E Arnold Sanjay Asthana Craig S Atwood Clinton T Baldwin Lisa L Barnes Sandra Barral Thomas G Beach James T Becker Eileen H Bigio Thomas D Bird Bradley F Boeve James D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R Galasko Marla Gearing Daniel H Geschwind John R Gilbert Neill R Graff-Radford Robert C Green John H Growdon Ronald L Hamilton Lindy E Harrell Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Erin Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald Kim Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Kathryn L Lunetta Constantine G Lyketsos Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Howard J Rosen Roger N Rosenberg Mark A Sager Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Fabienne Garzia Feroze Golamaully Gislain Septier Sebastien Engelborghs Rik Vandenberghe Peter P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti Peter St George-Hyslop Elio Scarpini Debby W Tsuang Michelangelo Mancuso Ubaldo Bonuccelli Ashley R Winslow Antonio Daniele Chuang-Kuo Wu Oliver Peters Benedetta Nacmias Matthias Riemenschneider Reinhard Heun Carol Brayne David C Rubinsztein Jose Bras Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes Carlos Cruchaga Martin Ingelsson David A Bennett John Powell Todd E Golde Caroline Graff Philip L De Jager Kevin Morgan Nilufer Ertekin-Taner Onofre Combarros Bruce M Psaty Peter Passmore Steven G Younkin Claudine Berr Vilmundur Gudnason Dan Rujescu Dennis W Dickson Jean-François Dartigues Anita L DeStefano Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ng.3916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669039PMC
September 2017

Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier.

J Alzheimers Dis 2017 ;57(3):697-703

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.3233/JAD-161170DOI Listing
August 2017

The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study.

J Alzheimers Dis 2017 ;56(4):1451-1457

Department of Translational Research and New Technologies in Medicine and Surgery, Section of Medical Genetics, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.3233/JAD-161081DOI Listing
February 2018

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Hum Mutat 2017 03 19;38(3):297-309. Epub 2017 Jan 19.

Center for Molecular Neurology, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.23161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324646PMC
March 2017

Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.

Neurosci Lett 2016 Jan 5;610:150-3. Epub 2015 Nov 5.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2015.11.004DOI Listing
January 2016

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

Brain 2015 Sep 31;138(Pt 9):e380. Epub 2015 Mar 31.

1 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, Ontario, Canada, M5T 2S8 8 Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada M5S 1A8

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http://dx.doi.org/10.1093/brain/awv082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547051PMC
September 2015

Csf p-tau181/tau ratio as biomarker for TDP pathology in frontotemporal dementia.

Amyotroph Lateral Scler Frontotemporal Degener 2015 Mar 29;16(1-2):86-91. Epub 2014 Oct 29.

Centre of Neurodegenerative Disorders, Neurology Unit, University of Brescia , Brescia.

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http://dx.doi.org/10.3109/21678421.2014.971812DOI Listing
March 2015

Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Neurobiol Aging 2015 Jan 1;36(1):545.e9-14. Epub 2014 Aug 1.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4268030PMC
January 2015

Epigenetic modifications in Alzheimer's disease: cause or effect?

J Alzheimers Dis 2015 ;43(4):1169-73

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.3233/JAD-141452DOI Listing
August 2015

A pilot study evaluating the contribution of SLC19A1 (RFC-1) 80G>a polymorphism to Alzheimer's disease in Italian Caucasians.

Biomed Res Int 2014 5;2014:608104. Epub 2014 Jun 5.

Division of Medical Genetics, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Medical School, Via Roma 56, 56126 Pisa, Italy.

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http://dx.doi.org/10.1155/2014/608104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068058PMC
February 2015

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

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Authors:
Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L DeStefano Jean-Charles Lambert Carla A Ibrahim-Verbaas Adam C Naj Rebecca Sims Gyungah Jun Joshua C Bis Gary W Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A Thornton-Wells Nicola Denning Albert V Smith Vincent Chouraki Charlene Thomas M Arfan Ikram Diana Zelenika Badri N Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L Dunstan Maria Vronskaya Andrew D Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L Fitzpatrick Joseph D Buxbaum Dominique Campion Paul K Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L Lopez Philip L De Jager Vincent Deramecourt Janet A Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M Goate Nathalie Fiévet Matthew J Huentelman Michael Gill Kristelle Brown M Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B Larson Amanda J Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G Younkin Eliecer Coto Kara L Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J Owen Kelley M Faber Palmi V Jonsson Onofre Combarros Michael C O'Donovan Laura B Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H Mosley David A Bennett Tamara B Harris Laura Fratiglioni Clive Holmes Renee F A G de Bruijn Peter Passmore Thomas J Montine Karolien Bettens Jerome I Rotter Alexis Brice Kevin Morgan Tatiana M Foroud Walter A Kukull Didier Hannequin John F Powell Michael A Nalls Karen Ritchie Kathryn L Lunetta John S K Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus M Nöthen Caroline Graff Bruce M Psaty Jonathan L Haines Mark Lathrop Margaret A Pericak-Vance Lenore J Launer Christine Van Broeckhoven Lindsay A Farrer Cornelia M van Duijn Alfredo Ramirez Sudha Seshadri Gerard D Schellenberg Philippe Amouyel Julie Williams

PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055488PMC
October 2015

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.

Hum Mol Genet 2014 Nov 6;23(21):5630-7. Epub 2014 Jun 6.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, Ontario, Canada M5T 2S8, Department of Medicine, Division of Neurology, University of Toronto, 1 King's College Circle, Toronto, Ontario, Canada M5S 1A8 and

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http://dx.doi.org/10.1093/hmg/ddu279DOI Listing
November 2014

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

Acta Neuropathol 2014 Sep 5;128(3):397-410. Epub 2014 Jun 5.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00401-014-1298-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131163PMC
September 2014

Advances in imaging-genetic relationships for Alzheimer's disease: clinical implications.

Neurodegener Dis Manag 2014 ;4(1):73-81

Department of Neuroscience, Psychology, Drug Research & Child Health, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy.

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http://dx.doi.org/10.2217/nmt.13.68DOI Listing
November 2014

Plasma membrane injury depends on bilayer lipid composition in Alzheimer's disease.

J Alzheimers Dis 2014 ;41(1):289-300

Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.

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http://dx.doi.org/10.3233/JAD-131406DOI Listing
January 2015

Imaging and cognitive reserve studies predict dementia in presymptomatic Alzheimer's disease subjects.

Neurodegener Dis 2014 7;13(2-3):157-9. Epub 2013 Aug 7.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1159/000353690DOI Listing
September 2014

TOMM40 polymorphisms in Italian Alzheimer's disease and frontotemporal dementia patients.

Neurol Sci 2013 Jun 2;34(6):995-8. Epub 2013 Apr 2.

Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139 Florence, Italy.

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http://dx.doi.org/10.1007/s10072-013-1425-6DOI Listing
June 2013

Genetics of familial and sporadic Alzheimer's disease.

Front Biosci (Elite Ed) 2013 Jan 1;5:167-77. Epub 2013 Jan 1.

Department of Neurological and Psychiatric sciences, University of Florence, Largo Brambilla 3, 50134 Florence, Italy.

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http://dx.doi.org/10.2741/e605DOI Listing
January 2013

A case of atypical early-onset Alzheimer's disease carrying the missense mutation Thr354Ile in exon 10 of the PSEN1 gene.

Neurol Sci 2013 Sep 2;34(9):1691-2. Epub 2012 Dec 2.

Department of Neurological and Psychiatric Sciences, University of Florence and Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Largo Brambilla, 3, 50134, Florence, Italy.

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September 2013

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

Authors:
Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Jessie Theuns Sebastiaan Engelborghs Stéphanie Philtjens Mathieu Vandenbulcke Kristel Sleegers Anne Sieben Veerle Bäumer Githa Maes Ellen Corsmit Barbara Borroni Alessandro Padovani Silvana Archetti Robert Perneczky Janine Diehl-Schmid Alexandre de Mendonça Gabriel Miltenberger-Miltenyi Sónia Pereira José Pimentel Benedetta Nacmias Silvia Bagnoli Sandro Sorbi Caroline Graff Huei-Hsin Chiang Marie Westerlund Raquel Sanchez-Valle Albert Llado Ellen Gelpi Isabel Santana Maria Rosário Almeida Beatriz Santiago Giovanni Frisoni Orazio Zanetti Cristian Bonvicini Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Michael T Heneka Frank Jessen Radoslav Matej Eva Parobkova Gabor G Kovacs Thomas Ströbel Stayko Sarafov Ivailo Tournev Albena Jordanova Adrian Danek Thomas Arzberger Gian Maria Fabrizi Silvia Testi Eric Salmon Patrick Santens Jean-Jacques Martin Patrick Cras Rik Vandenberghe Peter Paul De Deyn Marc Cruts Christine Van Broeckhoven Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Jessie Theuns Stéphanie Philtjens Kristel Sleegers Veerle Bäumer Githa Maes Ellen Corsmit Marc Cruts Christine Van Broeckhoven Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Stéphanie Philtjens Jessie Theuns Kristel Sleegers Veerle Bäumer Githa Maes Marc Cruts Christine Van Broeckhoven Sebastiaan Engelborghs Peter P De Deyn Patrick Cras Sebastiaan Engelborghs Peter P De Deyn Mathieu Vandenbulcke Mathieu Vandenbulcke Barbara Borroni Alessandro Padovani Silvana Archetti Robert Perneczky Janine Diehl-Schmid Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Michael T Heneka Frank Jessen Alfredo Ramirez Delia Kurzwelly Carmen Sachtleben Wolfgang Mairer Alexandre de Mendonça Gabriel Miltenberger-Miltenyi Sónia Pereira Clara Firmo José Pimentel Raquel Sanchez-Valle Albert Llado Anna Antonell Jose Molinuevo Ellen Gelpi Caroline Graff Huei-Hsin Chiang Marie Westerlund Caroline Graff Anne Kinhult Ståhlbom Håkan Thonberg Inger Nennesmo Anne Börjesson-Hanson Benedetta Nacmias Silvia Bagnoli Sandro Sorbi Valentina Bessi Irene Piaceri Isabel Santana Beatriz Santiago Isabel Santana Maria Helena Ribeiro Maria Rosário Almeida Catarina Oliveira João Massano Carolina Garret Paula Pires Giovanni Frisoni Orazio Zanetti Cristian Bonvicini Stayko Sarafov Ivailo Tournev Albena Jordanova Ivailo Tournev Gabor G Kovacs Thomas Ströbel Michael T Heneka Frank Jessen Alfredo Ramirez Delia Kurzwelly Carmen Sachtleben Wolfgang Mairer Frank Jessen Radoslav Matej Eva Parobkova Adrian Danel Thomas Arzberger Gian Maria Fabrizi Silvia Testi Sergio Ferrari Tiziana Cavallaro Eric Salmon Patrick Santens Patrick Cras

Hum Mutat 2013 Feb 4;34(2):363-73. Epub 2013 Jan 4.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638346PMC
February 2013

Ataxia-telangiectasia mutated (ATM) genetic variant in Italian centenarians.

Neurol Sci 2013 Apr 9;34(4):573-5. Epub 2012 Sep 9.

Department of Neurological and Psychiatric Sciences, University of Florence and Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Largo Brambilla, 3, 50134 Florence, Italy.

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http://dx.doi.org/10.1007/s10072-012-1188-5DOI Listing
April 2013

DAPK1 is associated with FTD and not with Alzheimer's disease.

J Alzheimers Dis 2012 ;32(1):13-7

Department of Neurological and Psychiatric Sciences, University of Florence and Centro di Ricerca, Florence, Italy.

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http://dx.doi.org/10.3233/JAD-2012-120556DOI Listing
February 2013

Suitability of neuropsychological tests in patients with vascular dementia (VaD).

J Neurol Sci 2012 Nov 12;322(1-2):41-5. Epub 2012 Jun 12.

Department of Neurological and Psychiatric Sciences, University of Florence, Italy.

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http://dx.doi.org/10.1016/j.jns.2012.05.045DOI Listing
November 2012

Association between serotonin transporter gene polymorphism and eating disorders outcome: a 6-year follow-up study.

Am J Med Genet B Neuropsychiatr Genet 2012 Jul 9;159B(5):491-500. Epub 2012 Apr 9.

Department of Neurological and Psychiatric Sciences, University of Florence, Largo Brambilla, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32052DOI Listing
July 2012

Osteoporosis and Parkinson's disease.

Clin Cases Miner Bone Metab 2011 Sep;8(3):16-8

Department of Neurological and Psychiatric Science, University of Florence, Careggi Hospital, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279061PMC
September 2011

Early clinical and molecular detection of Alzheimer's disease.

Int J Alzheimers Dis 2011 10;2011:818639. Epub 2011 Nov 10.

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134 Florence, Italy.

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http://dx.doi.org/10.4061/2011/818639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3216385PMC
August 2012

Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy.

Cell Mol Neurobiol 2012 Jan 29;32(1):13-6. Epub 2011 Jul 29.

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni, 85, 50134, Florence, Italy.

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http://dx.doi.org/10.1007/s10571-011-9741-yDOI Listing
January 2012

Specific Silencing of L392V PSEN1 Mutant Allele by RNA Interference.

Int J Alzheimers Dis 2011 Apr 7;2011:809218. Epub 2011 Apr 7.

Department of Bioorganic Chemistry, Centre of Molecular and Macromolecular Studies, Polish Academy of Sciences, 90-363 Lodz, Sienkiewicza 112, Poland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090069PMC
April 2011

Association Study of Genetic Variants in CDKN2A/CDKN2B Genes/Loci with Late-Onset Alzheimer's Disease.

Int J Alzheimers Dis 2011 Apr 14;2011:374631. Epub 2011 Apr 14.

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni, 85 - 50134 Florence, Italy.

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http://dx.doi.org/10.4061/2011/374631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090043PMC
April 2011

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

Authors:
Paul Hollingworth Denise Harold Rebecca Sims Amy Gerrish Jean-Charles Lambert Minerva M Carrasquillo Richard Abraham Marian L Hamshere Jaspreet Singh Pahwa Valentina Moskvina Kimberley Dowzell Nicola Jones Alexandra Stretton Charlene Thomas Alex Richards Dobril Ivanov Caroline Widdowson Jade Chapman Simon Lovestone John Powell Petroula Proitsi Michelle K Lupton Carol Brayne David C Rubinsztein Michael Gill Brian Lawlor Aoibhinn Lynch Kristelle S Brown Peter A Passmore David Craig Bernadette McGuinness Stephen Todd Clive Holmes David Mann A David Smith Helen Beaumont Donald Warden Gordon Wilcock Seth Love Patrick G Kehoe Nigel M Hooper Emma R L C Vardy John Hardy Simon Mead Nick C Fox Martin Rossor John Collinge Wolfgang Maier Frank Jessen Eckart Rüther Britta Schürmann Reiner Heun Heike Kölsch Hendrik van den Bussche Isabella Heuser Johannes Kornhuber Jens Wiltfang Martin Dichgans Lutz Frölich Harald Hampel John Gallacher Michael Hüll Dan Rujescu Ina Giegling Alison M Goate John S K Kauwe Carlos Cruchaga Petra Nowotny John C Morris Kevin Mayo Kristel Sleegers Karolien Bettens Sebastiaan Engelborghs Peter P De Deyn Christine Van Broeckhoven Gill Livingston Nicholas J Bass Hugh Gurling Andrew McQuillin Rhian Gwilliam Panagiotis Deloukas Ammar Al-Chalabi Christopher E Shaw Magda Tsolaki Andrew B Singleton Rita Guerreiro Thomas W Mühleisen Markus M Nöthen Susanne Moebus Karl-Heinz Jöckel Norman Klopp H-Erich Wichmann V Shane Pankratz Sigrid B Sando Jan O Aasly Maria Barcikowska Zbigniew K Wszolek Dennis W Dickson Neill R Graff-Radford Ronald C Petersen Cornelia M van Duijn Monique M B Breteler M Arfan Ikram Anita L DeStefano Annette L Fitzpatrick Oscar Lopez Lenore J Launer Sudha Seshadri Claudine Berr Dominique Campion Jacques Epelbaum Jean-François Dartigues Christophe Tzourio Annick Alpérovitch Mark Lathrop Thomas M Feulner Patricia Friedrich Caterina Riehle Michael Krawczak Stefan Schreiber Manuel Mayhaus S Nicolhaus Stefan Wagenpfeil Stacy Steinberg Hreinn Stefansson Kari Stefansson Jon Snaedal Sigurbjörn Björnsson Palmi V Jonsson Vincent Chouraki Benjamin Genier-Boley Mikko Hiltunen Hilkka Soininen Onofre Combarros Diana Zelenika Marc Delepine Maria J Bullido Florence Pasquier Ignacio Mateo Ana Frank-Garcia Elisa Porcellini Olivier Hanon Eliecer Coto Victoria Alvarez Paolo Bosco Gabriele Siciliano Michelangelo Mancuso Francesco Panza Vincenzo Solfrizzi Benedetta Nacmias Sandro Sorbi Paola Bossù Paola Piccardi Beatrice Arosio Giorgio Annoni Davide Seripa Alberto Pilotto Elio Scarpini Daniela Galimberti Alexis Brice Didier Hannequin Federico Licastro Lesley Jones Peter A Holmans Thorlakur Jonsson Matthias Riemenschneider Kevin Morgan Steven G Younkin Michael J Owen Michael O'Donovan Philippe Amouyel Julie Williams

Nat Genet 2011 May 3;43(5):429-35. Epub 2011 Apr 3.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1038/ng.803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084173PMC
May 2011

Implication of a genetic variant at PICALM in Alzheimer’s disease patients and centenarians.

J Alzheimers Dis 2011 ;24(3):409-13

Department of Neurological and Psychiatric Sciences, University of Florence and Centro di Ricerca,Trasferimento e Alta Formazione DENOTHE, University of Florence, Viale Morgagni, Firenze, Italy.

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http://dx.doi.org/10.3233/JAD-2011-101791DOI Listing
September 2011