Elisa Majounie

Elisa Majounie

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Elisa Majounie

Elisa Majounie

Publications by authors named "Elisa Majounie"

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Blepharospasm: A genetic screening study in 132 patients.

Parkinsonism Relat Disord 2019 Apr 2. Epub 2019 Apr 2.

Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.003DOI Listing
April 2019

The Correlation between Inflammatory Biomarkers and Polygenic Risk Score in Alzheimer's Disease.

J Alzheimers Dis 2017 ;56(1):25-36

Division of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.3233/JAD-160889DOI Listing
February 2018

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging.

Sci Rep 2017 12 4;7(1):16890. Epub 2017 Dec 4.

Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41598-017-17322-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715102PMC
December 2017

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

Tdp-43 cryptic exons are highly variable between cell types.

Mol Neurodegener 2017 02 2;12(1):13. Epub 2017 Feb 2.

Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.

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http://dx.doi.org/10.1186/s13024-016-0144-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289002PMC
February 2017

Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation.

Parkinsonism Relat Disord 2016 09 21;30:83-5. Epub 2016 Jun 21.

Department of Neurology, Medical College of Georgia, Augusta, GA 30912, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2016.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995126PMC
September 2016

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

Neurol Genet 2015 Jun 18;1(1):e9. Epub 2015 Jun 18.

Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127 (S.L., F.C.-D., C.C., A.N., A.B.), Paris, France; Centre d'Investigation Clinique Pitié Neurosciences CIC-1422 (F.C.-D.); AP-HP, Hôpital de la Salpêtrière (A.B.), Department of Genetics and Cytogenetics, Paris, France; Department of Molecular Neuroscience (J.B., L.D., R.G., M.F., N.W., J.H.), UCL Institute of Neurology, London, United Kingdom; Laboratory of Neurogenetics (E.M., M.F., A.S.), National Institute on Aging, Bethesda, MD; Hertie Institute for Clinical Brain Research (P.H., T.G.), University of Tübingen and DZNE (P.H., T.G.), German Center for Neurodegenerative Diseases, Tübingen, Germany; and Institut des Maladies Neurodégénératives (F.T.), Université de Bordeaux et CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1212/NXG.0000000000000009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821081PMC
June 2015

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Neurobiol Aging 2015 Feb 6;36(2):1223.e1-2. Epub 2014 Sep 6.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315721PMC
February 2015

Age-associated miRNA alterations in skeletal muscle from rhesus monkeys reversed by caloric restriction.

Aging (Albany NY) 2013 Sep;5(9):692-703

Experimental Gerontology Section, Translational Gerontology Branch, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808701PMC
http://dx.doi.org/10.18632/aging.100598DOI Listing
September 2013

Extensive genetics of ALS: a population-based study in Italy.

Neurology 2012 Nov 24;79(19):1983-9. Epub 2012 Oct 24.

ALS Center, Department of Neurosciences, University of Torino and AOU San Giovanni Battista of Torino, Torino, Italy.

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http://dx.doi.org/10.1212/WNL.0b013e3182735d36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484987PMC
November 2012

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.

Neurobiol Aging 2012 Oct 20;33(10):2527.e1-2. Epub 2012 Jun 20.

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545506PMC
October 2012

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.

Neurobiol Aging 2012 Aug 6;33(8):1850.e13-6. Epub 2012 Apr 6.

Department of Pathology, Lund University, Regional Laboratories Region Skåne, Lund, Sweden.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562220PMC
August 2012

Mutational analysis of the VCP gene in Parkinson's disease.

Neurobiol Aging 2012 Jan 13;33(1):209.e1-2. Epub 2011 Sep 13.

Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3221929PMC
January 2012

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

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

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

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

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

J Med Genet 2011 Apr 28;48(4):256-60. Epub 2011 Jan 28.

Department of Clinical Genetics, West Midlands Regional Genetics Unit, Birmingham, UK.

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http://dx.doi.org/10.1136/jmg.2010.081760DOI Listing
April 2011

The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.

J Neurol 2009 Mar 6;256(3):343-8. Epub 2009 Mar 6.

Dept. of Neurology, Ophthalmology and Audiological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

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http://link.springer.com/10.1007/s00415-009-0015-2
Publisher Site
http://dx.doi.org/10.1007/s00415-009-0015-2DOI Listing
March 2009

Analysis of copy number variation using quantitative interspecies competitive PCR.

Nucleic Acids Res 2008 Oct 12;36(17):e112. Epub 2008 Aug 12.

Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

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http://nar.oxfordjournals.org/content/36/17/e112.full-text-l
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http://nar.oxfordjournals.org/lookup/doi/10.1093/nar/gkn495
Publisher Site
http://dx.doi.org/10.1093/nar/gkn495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2553599PMC
October 2008

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Hum Genet 2003 Jan 9;112(1):12-7. Epub 2002 Oct 9.

Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK.

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http://link.springer.com/10.1007/s00439-002-0840-1
Publisher Site
http://dx.doi.org/10.1007/s00439-002-0840-1DOI Listing
January 2003