Thomas Bird

Thomas Bird

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Thomas Bird

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The landscape of gene mutations in cirrhosis and hepatocellular carcinoma.

J Hepatol 2020 Feb 7. Epub 2020 Feb 7.

Service d'Hépatologie, Hôpital Jean Verdier, Hôpitaux universitaires Paris-Seine-Saint-Denis, Assistance publique Hôpitaux de Paris, Bondy, France; Unité mixte de Recherche 1162, Génomique fonctionnelle des Tumeurs solides, Institut national de la Santé et de la Recherche médicale, Paris, France; Unité de Formation et de Recherche Santé Médecine et Biologie humaine, Université Paris 13, Communauté d'Universités et Etablissements Sorbonne Paris Cité, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2020.01.019DOI Listing
February 2020

Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia.

Mov Disord Clin Pract 2020 Jan 14;7(1):70-77. Epub 2019 Dec 14.

Department of Medicine, Division of Medical Genetics University of Washington Seattle Washington USA.

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http://dx.doi.org/10.1002/mdc3.12873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962666PMC
January 2020

Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy.

PLoS Genet 2019 12 13;15(12):e1008526. Epub 2019 Dec 13.

Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1008526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934317PMC
December 2019

A Genetic Study of Psychosis in Huntington's Disease: Evidence for the Involvement of Glutamate Signaling Pathways.

J Huntingtons Dis 2018 ;7(1):51-59

Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, WA, USA.

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http://dx.doi.org/10.3233/JHD-170277DOI Listing
October 2019

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
September 2019

Beneficial Noncancerous Mutations in Liver Disease.

Trends Genet 2019 Jul 28;35(7):475-477. Epub 2019 May 28.

Cancer Research UK Beatson Institute, Glasgow, G61 1BD, UK; MRC Centre for Inflammation Research, The Queen's Medical Research Institute, University of Edinburgh, Edinburgh, EH164TJ, UK.

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http://dx.doi.org/10.1016/j.tig.2019.05.002DOI Listing
July 2019

Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.

Genet Med 2019 06 16;21(6):1457-1461. Epub 2018 Oct 16.

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.

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http://www.nature.com/articles/s41436-018-0329-5
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http://dx.doi.org/10.1038/s41436-018-0329-5DOI Listing
June 2019

Editorial: simplifying screening for primary liver cancer - do the LCR1 and LCR2 tests hold the key?

Aliment Pharmacol Ther 2019 03;49(5):612-613

Cancer Research UK Beatson Institute, Glasgow, UK.

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http://dx.doi.org/10.1111/apt.15119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451840PMC
March 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

Clinical approach to the patient with neurogenetic disease.

Handb Clin Neurol 2018 ;147:3-9

Department of Neurology, University of Washington, Seattle, WA, United States.

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https://linkinghub.elsevier.com/retrieve/pii/B97804446323330
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http://dx.doi.org/10.1016/B978-0-444-63233-3.00001-4DOI Listing
July 2018

Enhanced retinal responses in Huntington's disease patients.

J Huntingtons Dis 2017 ;6(3):237-247

Department of Neurology, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.3233/JHD-170255DOI Listing
May 2018

Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra.

Cerebellum 2018 04;17(2):143-151

Department of Neurology, University of Washington School of Medicine, 1959 NE Pacific St., Seattle, WA, 98195, USA.

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http://dx.doi.org/10.1007/s12311-017-0882-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843512PMC
April 2018

Outcomes and prognostic factors of multimodality treatment for locally recurrent rectal cancer with curative intent.

Int J Colorectal Dis 2018 Apr 21;33(4):393-401. Epub 2018 Feb 21.

Department of Surgery, Peter MacCallum Cancer Centre, Melbourne, Australia.

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http://dx.doi.org/10.1007/s00384-018-2985-yDOI Listing
April 2018

Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration.

Mol Neurodegener 2018 02 6;13(1). Epub 2018 Feb 6.

Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, S182, 1660 South Columbian Way, Seattle, WA, 98108, USA.

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http://dx.doi.org/10.1186/s13024-018-0237-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802059PMC
February 2018

Molecular genetic testing for hereditary ataxia: What every neurologist should know.

Neurol Clin Pract 2018 Feb;8(1):27-32

Division of Genetic Medicine, Department of Pediatrics (SEW), and Departments of Neurology and Medicine (TDB), University of Washington, Seattle.

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http://dx.doi.org/10.1212/CPJ.0000000000000421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839675PMC
February 2018

Novel pregnancy-triggered episodes of CAPOS syndrome.

Am J Med Genet A 2018 01 1;176(1):235-240. Epub 2017 Nov 1.

Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726903PMC
January 2018

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

Cellular senescence drives age-dependent hepatic steatosis.

Nat Commun 2017 06 13;8:15691. Epub 2017 Jun 13.

Newcastle University Institute for Ageing, Institute for Cell and Molecular Biosciences, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne NE4 5PL, UK.

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http://dx.doi.org/10.1038/ncomms15691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5474745PMC
June 2017

Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms.

Neuroreport 2017 May;28(7):375-379

aVollum Institute bDepartment of Behavioral Neuroscience cDepartment of Obstetrics and Gynecology, Oregon Health and Science University, Portland, Oregon dDepartment of Neurology, Geriatric Research (GRECC), VA Puget Sound Healthcare System, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1097/WNR.0000000000000754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378592PMC
May 2017

Polygenic risk scores in familial Alzheimer disease.

Neurology 2017 Mar 17;88(12):1180-1186. Epub 2017 Feb 17.

From the Taub Institute for Research on Alzheimer's Disease and the Aging Brain (G.T., J.M., R.O., N.S., Y.S., R.M.), Gertrude H. Sergievsky Center (G.T., J.M., N.S., Y.S., R.M.), and Department of Neurology (G.T., J.M., R.O., N.S., Y.S.), Columbia University College of Physicians and Surgeons, New York; New York Presbyterian Hospital (G.T., J.M., R.O., N.S., Y.S.), NY; Departments of Neurology and Medicine (T.D.B., D.T.), University of Washington, Seattle; Rush Alzheimer's Disease Center (D.A.B.), Rush University Medical Center, Chicago, IL; Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN; Hope Center for Neurological Disorders (C.C.), Washington University, St Louis, MO; Department of Medical and Molecular Genetics (K.F., T.M.F.), Indiana University; Department of Neurology (M.F.), Indiana University Center for Alzheimer's Disease and Related Disorders, Indianapolis; Department of Neuroscience (A.M.G., S.B.), Mount Sinai School of Medicine, New York, NY; Department of Neurology (N.R.G.-R.), Mayo Clinic, Jacksonville, FL; School of Medicine (M.M., R.M.), Mother and Teacher Pontifical Catholic University, Santiago, Dominican Republic; Department of Medicine (R.L.) and Department of Epidemiology, Mailman School of Public Health (R.O., N.S.), Columbia University, New York; Division of Epidemiology (R.O.), New York State Psychiatric Institute, New York; Department of Neurology and Neurotherapeutics (R.R.), The University of Texas Southwestern Medical Center, Dallas; Department of Health Sciences Research (D.J.S.), Mayo Clinic, Rochester, MN; and Department of Psychiatry, Neurology and Epidemiology (R.A.S.), University of Pittsburgh, PA.

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http://dx.doi.org/10.1212/WNL.0000000000003734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373783PMC
March 2017

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

Mov Disord 2017 02 9;32(2):305-306. Epub 2016 Dec 9.

Geriatric Research, Education and Clinical Center Department of Veteran Affairs, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/mds.26888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318268PMC
February 2017

Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).

Am J Med Genet B Neuropsychiatr Genet 2017 01 16;174(1):70-74. Epub 2016 Mar 16.

Department of Neurology, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.b.32443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5297469PMC
January 2017

Genetic factors in neurodegenerative diseases.

Am J Med Genet B Neuropsychiatr Genet 2017 01 22;174(1):3-4. Epub 2016 Oct 22.

Professor Emeritus, Department of Neurology, University of Washington, Seattle, Washington.

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http://doi.wiley.com/10.1002/ajmg.b.32504
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http://dx.doi.org/10.1002/ajmg.b.32504DOI Listing
January 2017

The Evolution of the Use of Serum Alpha-fetoprotein in Clinical Liver Cancer Surveillance.

J Immunobiol 2016 Dec;1(4)

Centre for Liver and Digestive Disorders, Royal Infirmary of Edinburgh, UK; Cancer Research UK, Beatson Institute, Glasgow, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266549PMC
http://dx.doi.org/10.4172/2476-1966.1000116DOI Listing
December 2016

The phosphatase calcineurin regulates pathological TDP-43 phosphorylation.

Acta Neuropathol 2016 10 29;132(4):545-61. Epub 2016 Jul 29.

Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA, 98108, USA.

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http://dx.doi.org/10.1007/s00401-016-1600-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026939PMC
October 2016

The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease.

JAMA Neurol 2016 Oct;73(10):1231-1237

Taub Institute for Research on Alzheimer's Disease, The Aging Brain and the Gertrude H. Sergievsky Center, Columbia University College of Physicians and Surgeons, New York, New York2Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York3New York Presbyterian Hospital in New York City14Department of Epidemiology, Columbia University, New York, New York.

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http://dx.doi.org/10.1001/jamaneurol.2016.2539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155512PMC
October 2016

Temozolomide for central nervous system involvement in mycosis fungoides.

Int J Dermatol 2016 Jul 14;55(7):751-6. Epub 2015 Aug 14.

Department of Clinical Oncology, Guy's and St Thomas' National Health Service Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/ijd.13007DOI Listing
July 2016

(18)F-FDG PET/CT to assess response and guide risk-stratified follow-up after chemoradiotherapy for oropharyngeal squamous cell carcinoma.

Eur J Nucl Med Mol Imaging 2016 Jul 28;43(7):1239-47. Epub 2015 Dec 28.

Department of Clinical Oncology, Guy's and St Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1007/s00259-015-3290-4DOI Listing
July 2016

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Am J Hum Genet 2016 06;98(6):1146-1158

Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Geriatric Research, Education, and Clinical Center, Veterans Administration Puget Sound Veterans Health Care Center, Seattle, WA 98108, USA; Division of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908176PMC
June 2016

TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy.

Neuron 2016 05;90(4):724-39

Department of Neurology, Yale University, New Haven, CT 06511, USA; Department of Neuroscience, Yale University, New Haven, CT 06511, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898967PMC
May 2016

PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

Am J Hum Genet 2016 Mar;98(3):588-589

Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800039PMC
March 2016

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.

Alzheimers Dement 2016 Jan 11;12(1):2-10. Epub 2015 Sep 11.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2015.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717829PMC
January 2016

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Authors:
Kevin Michael Biglan Ira Shoulson Karl Kieburtz David Oakes Elise Kayson M Aileen Shinaman Hongwei Zhao Megan Romer Anne Young Steven Hersch Jack Penney Karen Marder Jane Paulsen Kimberly Quaid Eric Siemers Caroline Tanner William Mallonee Greg Suter Richard Dubinsky Carolyn Gray Martha Nance Scott Bundlie Dawn Radtke Sandra Kostyk Corrine Baic James Caress Francis Walker Victoria Hunt Christine O'Neill Sylvain Chouinard Stewart Factor Timothy Greenamyre Cathy Wood-Siverio Jody Corey-Bloom David Song Guerry Peavy Carol Moskowitz Melissa Wesson Ali Samii Thomas Bird Hillary Lipe Karen Blindauer Frederick Marshall Carol Zimmerman Jody Goldstein Diana Rosas Peter Novak John Caviness Charles Adler Amy Duffy Vicki Wheelock Teresa Tempkin David Richman Lauren Seeberger Roger Albin Kelvin L Chou Brad Racette Joel S Perlmutter Susan Perlman Yvette Bordelon Wayne Martin Marguerite Wieler Blair Leavitt Lynn Raymond Joji Decolongon Lorne Clarke Joseph Jankovic Christine Hunter Robert A Hauser Juan Sanchez-Ramos Sarah Furtado Oksana Suchowersky Mary Lou Klimek Mark Guttman Rustom Sethna Andrew Feigin Marie Cox Barbara Shannon Alan Percy Leon Dure Madaline Harrison William Johnson Donald Higgins Eric Molho Constance Nickerson Sharon Evans Douglas Hobson Carlos Singer Nestor Galvez-Jimenez Kathleen Shannon Cynthia Comella Christopher Ross Marie H Saint-Hilaire Claudia Testa Adam Rosenblatt Penelope Hogarth William Weiner Peter Como Rajeev Kumar Candace Cotto Julie Stout Alicia Brocht Arthur Watts Shirley Eberly Christine Weaver Tatiana Foroud James Gusella Marcy MacDonald Richard Myers Stanley Fahn Clifford Shults

JAMA Neurol 2016 Jan;73(1):102-10

Department of Neuroscience, University of California, San Diego, La Jolla.

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http://dx.doi.org/10.1001/jamaneurol.2015.2736DOI Listing
January 2016

Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Mov Disord Clin Pract 2016 Jul-Aug;3(4):342-354. Epub 2016 Jan 27.

Department of Neurology University of Washington Seattle Seattle Washington U.S.A.

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http://dx.doi.org/10.1002/mdc3.12312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353394PMC
January 2016

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

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http://dx.doi.org/10.1212/WNL.0000000000002058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676753PMC
December 2015

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Neurol Genet 2015 Dec 22;1(4):e29. Epub 2015 Oct 22.

Department of Neurology (J.M.S., W.A., B.B., C.J.S.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Molecular and Cellular Biology (C.M.Z., R.G.), Harvard University, Cambridge, MA; Department of Neurology (D.-H.C., T.D.B.), University of Washington School of Medicine, Seattle, WA; Department of Neurology (J.W.D., C.E.S.), Stanford Health Care, Stanford, CA; and Department of Neuroscience (C.J.S.), Johns Hopkins University, Baltimore, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811381PMC
December 2015

Genetic variants associated with susceptibility to psychosis in late-onset Alzheimer's disease families.

Neurobiol Aging 2015 Nov 15;36(11):3116.e9-3116.e16. Epub 2015 Aug 15.

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA; Gertrude H. Sergievsky Center, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA; Department of Neurology, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609604PMC
November 2015

Two Fresh Streams to Fill the Liver's Hepatocyte Pool.

Cell Stem Cell 2015 Oct;17(4):377-8

MRC Centre for Regenerative Medicine, University of Edinburgh, 49 Little France Crescent, Edinburgh, EH16 4SB, UK. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2015.09.007DOI Listing
October 2015

Congenital insensitivity to pain with anhidrosis.

Ann Neurol 2015 Sep 17;78(3):500. Epub 2015 Jul 17.

GRECC, VA Puget Sound Health Care, Seattle, WA.

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http://dx.doi.org/10.1002/ana.24450DOI Listing
September 2015

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.

JAMA Neurol 2015 Aug;72(8):920-7

Department of Neurology, University of Washington, Seattle5Department of Medicine (Medical Genetics), University of Washington, Seattle9Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington.

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http://dx.doi.org/10.1001/jamaneurol.2015.0979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4825672PMC
August 2015

Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome?

Muscle Nerve 2015 Mar;51(3):385-90

Department of Neurology, University of Washington Medical Center, Box 356115, 1959 NE Pacific Street, Seattle, Washington, 98195, USA.

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http://doi.wiley.com/10.1002/mus.24331
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March 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

Authors:
Li-San Wang Adam C Naj Robert R Graham Paul K Crane Brian W Kunkle Carlos Cruchaga Josue D Gonzalez Murcia Lisa Cannon-Albright Clinton T Baldwin Henrik Zetterberg Kaj Blennow Walter A Kukull Kelley M Faber Nicole Schupf Maria C Norton JoAnn T Tschanz Ronald G Munger Christopher D Corcoran Ekaterina Rogaeva Chiao-Feng Lin Beth A Dombroski Laura B Cantwell Amanda Partch Otto Valladares Hakon Hakonarson Peter St George-Hyslop Robert C Green Alison M Goate Tatiana M Foroud Regina M Carney Eric B Larson Timothy W Behrens John S K Kauwe Jonathan L Haines Lindsay A Farrer Margaret A Pericak-Vance Richard Mayeux Gerard D Schellenberg Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Michael Barmada Lisa L Barnes Thomas G Beach James T Becker Gary W Beecham Duane Beekly David A Bennett Eileen H Bigio Thomas D Bird Deborah Blacker Bradley F Boeve James D Bowen Adam Boxer James R Burke Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Steven L Carroll Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky F Yesim Demirci Malcolm Dick Dennis W Dickson Ranjan Duara Nilufer Ertekin-Taner Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass Neill R Graff-Radford John H Growdon Ronald L Hamilton Kara L Hamilton-Nelson Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gail P Jarvik Gregory A Jicha Lee-Way Jin Gyungah Jun Gyungah Jun M Ilyas Kamboh Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Gei Li Andrew P Lieberman Oscar L Lopez Kathryn L Lunetta Constantine G Lyketsos Wendy J Mack Daniel C Marson Eden R Martin Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee W Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Thomas J Montine John C Morris Jill R Murrell John M Olichney Joseph E Parisi William Perry Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Eric M Reiman Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Debby W Tsuang Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2015 Feb;72(2):209-16

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

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http://dx.doi.org/10.1001/jamaneurol.2014.2157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324097PMC
February 2015

Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay.

Nat Chem Biol 2015 Feb 12;11(2):164-71. Epub 2015 Jan 12.

1] Department of Chemical Physiology, The Scripps Research Institute, La Jolla, California. [2] The Skaggs Institute for Chemical Biology, The Scripps Research Institute, La Jolla, California.

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http://dx.doi.org/10.1038/nchembio.1721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301979PMC
February 2015

The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.

PLoS Genet 2014 Dec 4;10(12):e1004803. Epub 2014 Dec 4.

Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, Washington, United States of America; Department of Medicine, University of Washington, Seattle, Washington, United States of America; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256087PMC
December 2014

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

Authors:
Adam C Naj Gyungah Jun Christiane Reitz Brian W Kunkle William Perry Yo Son Park Gary W Beecham Ruchita A Rajbhandary Kara L Hamilton-Nelson Li-San Wang John S K Kauwe Matthew J Huentelman Amanda J Myers Thomas D Bird Bradley F Boeve Clinton T Baldwin Gail P Jarvik Paul K Crane Ekaterina Rogaeva M Michael Barmada F Yesim Demirci Carlos Cruchaga Patricia L Kramer Nilufer Ertekin-Taner John Hardy Neill R Graff-Radford Robert C Green Eric B Larson Peter H St George-Hyslop Joseph D Buxbaum Denis A Evans Julie A Schneider Kathryn L Lunetta M Ilyas Kamboh Andrew J Saykin Eric M Reiman Philip L De Jager David A Bennett John C Morris Thomas J Montine Alison M Goate Deborah Blacker Debby W Tsuang Hakon Hakonarson Walter A Kukull Tatiana M Foroud Eden R Martin Jonathan L Haines Richard P Mayeux Lindsay A Farrer Gerard D Schellenberg Margaret A Pericak-Vance Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Lisa L Barnes Thomas G Beach James T Becker Duane Beekly Eileen H Bigio James D Bowen Adam Boxer James R Burke Nigel J Cairns Laura B Cantwell Chuanhai Cao Chris S Carlson Regina M Carney Minerva M Carrasquillo Steven L Carroll Helena C Chui David G Clark Jason Corneveaux David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky Malcolm Dick Dennis W Dickson Ranjan Duara Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass John H Growdon Ronald L Hamilton Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gregory A Jicha Lee-Way Jin Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Chiao-Feng Lin Oscar L Lopez Constantine G Lyketsos Wendy J Mack 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 Jill R Murrell John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Otto Valladares Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2014 Nov;71(11):1394-404

Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1001/jamaneurol.2014.1491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314944PMC
November 2014

The co-occurrence of Alzheimer's disease and Huntington's disease: a neuropathological study of 15 elderly Huntington's disease subjects.

J Huntingtons Dis 2014 ;3(2):209-17

Department of Neurology, University of Washington, Seattle, WA, USA Geriatric Research Education and Clinical Center, VAPSHCS, Seattle, WA, USA.

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http://dx.doi.org/10.3233/JHD-140111DOI Listing
September 2014

Atypical gastric bleeding in a 55-year-old man, beyond the scope of treatment?

Gut 2014 Aug 28;63(8):1344. Epub 2014 Apr 28.

Department of Radiology, Royal Infirmary of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/gutjnl-2014-307286DOI Listing
August 2014

Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.

Neurology 2014 Jul 13;83(3):253-60. Epub 2014 Jun 13.

From the Departments of Neurology (D.C.R., J.C.M., R.J.B.), Biostatistics (C.X.), and Psychiatry (A.G.), Washington University School of Medicine, St. Louis, MO; Neurologische Klinik Ludwig-Maximilians-Universität Munich and German Center for Neurodegenerative Diseases (A.D.), Munich, Germany; Department of Neurosciences (P.S.A.), University of California San Diego; Mental Health Research Institute (C.L.M.), University of Melbourne, Australia; Grupo de Neurociencias de Antioquia (N.A.-B., F.L., S.M.), Universidad de Antioquia, Medellín, Colombia; Department of Neurology (E.M.), University of Pittsburgh, PA; Department of Neurology (T.B.), University of Washington, Seattle; Banner Alzheimer's Institute (J.B.S.L., E.M.R., P.N.T.), Phoenix, AZ; Neuroscience Research Australia and University of New South Wales (P.R.S.), Sydney, Australia; Edith Cowan University (R.M.), Western Australia; Easton Center for Alzheimer's Disease Research at UCLA (J.M.R.), Los Angeles, CA; Department of Neurology (R.P.M.), Columbia University, New York, NY; Queen Square Institute of Neurology (N.C.F.), University College London; Department of Neurology (S.S.), Warren Alpert Medical School, Brown University, Providence, RI; and Center for Alzheimer Research and Treatment (R.S.), Brigham and Women's Hospital and Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000000596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117367PMC
July 2014

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

Muscle Nerve 2014 Apr 20;49(4):593-600. Epub 2013 Sep 20.

Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, and Seattle Children's Hospital, 4800 Sand Point Way NE, Neurology, MB.7.420, Seattle, Washington, USA, 98105.

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http://dx.doi.org/10.1002/mus.23976DOI Listing
April 2014

Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.

Neurosci Lett 2014 Mar 2;563:140-3. Epub 2014 Feb 2.

Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA, United States; Parkinson's Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA, United States; Department of Neurology, University of Washington, Seattle, WA, United States; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, United States.

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http://dx.doi.org/10.1016/j.neulet.2014.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984905PMC
March 2014

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

J Neurol Sci 2013 Dec 3;335(1-2):219-20. Epub 2013 Sep 3.

Department of Psychiatry, University of Regensburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X130288
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http://dx.doi.org/10.1016/j.jns.2013.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729292PMC
December 2013

Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

J Neurol Sci 2013 Dec 17;335(1-2):134-8. Epub 2013 Sep 17.

Department of Neurology, University of Washington, Seattle, WA, United States.

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http://dx.doi.org/10.1016/j.jns.2013.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4017341PMC
December 2013

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

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

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

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

TREM2 and neurodegenerative disease.

Authors:
Thomas D Bird

N Engl J Med 2013 10;369(16):1568

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http://dx.doi.org/10.1056/NEJMc1306509DOI Listing
October 2013