Alan E Renton

Alan E Renton

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Alan E Renton

Alan E Renton

Publications by authors named "Alan E Renton"

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C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition.

Neurobiol Aging 2019 Mar 11. Epub 2019 Mar 11.

Molecular Neurology, Research Programs Unit, Department of Neurology, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.02.026DOI Listing
March 2019

Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.

Bioinformatics 2018 08;34(16):2724-2731

Department of Population and Quantitative Health Sciences, Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.

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http://dx.doi.org/10.1093/bioinformatics/bty177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084586PMC
August 2018

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41380-018-0112-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375806PMC
August 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.

Am J Hum Genet 2017 02 5;100(2):193-204. Epub 2017 Jan 5.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294711PMC
February 2017

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Neurobiol Aging 2016 07 9;43:180.e1-5. Epub 2016 Apr 9.

"Rita Levi Montalcini" Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, Consiglio Nazionale delle Ricerche, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.03.028DOI Listing
July 2016

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

Neurology 2016 Feb 6;86(5):446-53. Epub 2016 Jan 6.

From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000002334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773945PMC
February 2016

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

Neurobiol Aging 2015 Oct 25;36(10):2906.e1-5. Epub 2015 Jun 25.

ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Neurology II, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193218PMC
October 2015

A genome-wide association study of myasthenia gravis.

JAMA Neurol 2015 Apr;72(4):396-404

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland11Department of Neurology, Johns Hopkins School of Medicine, Baltimore, M.

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http://www.viverelamiastenia.it/file/JAMA%20Neurology_MG%20G
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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaneurol.2014.4103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856525PMC
April 2015

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

Alzheimer Dis Assoc Disord 2014 Apr-Jun;28(2):190-3

Departments of *Neurology ‡Ophthalmology, Institute of Clinical Medicine, University of Oulu †Clinical Research Center, Oulu University Hospital, Oulu, Finland §Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD ∥Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland ¶Department of Neurology, Kuopio University Hospital, Kuopio, Finland.

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http://dx.doi.org/10.1097/WAD.0b013e318266fae5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511614PMC
January 2015

Exploring the epigenetics of Alzheimer disease.

JAMA Neurol 2015 Jan;72(1):8-9

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaneurol.2014.3057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810552PMC
January 2015

Genetic architecture of ALS in Sardinia.

Neurobiol Aging 2014 Dec 18;35(12):2882.e7-2882.e12. Epub 2014 Jul 18.

Amyotrophic Lateral Sclerosis Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252367PMC
December 2014

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion.

Neurobiol Aging 2014 Oct 18;35(10):2419.e17-21. Epub 2014 Apr 18.

Division of Geriatric Psychiatry and Neuropsychiatry, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580140031
Publisher Site
http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4087047PMC
October 2014

State of play in amyotrophic lateral sclerosis genetics.

Nat Neurosci 2014 Jan 26;17(1):17-23. Epub 2013 Dec 26.

1] Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. [2] Department of Neurology, Brain Sciences Institute, Johns Hopkins University, Baltimore, Maryland, USA.

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http://www.nature.com/articles/nn.3584
Publisher Site
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544832PMC
http://dx.doi.org/10.1038/nn.3584DOI Listing
January 2014

Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.

Am J Neurodegener Dis 2013 29;2(4):276-86. Epub 2013 Nov 29.

Section of Geriatric Psychiatry, Department of Clinical Sciences, Lund University Klinikgatan 22, Lund SE-221 85, Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852567PMC
December 2013

Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration.

Dement Geriatr Cogn Dis Extra 2013 20;3(1):251-62. Epub 2013 Aug 20.

Department of Neurology, Institute of Clinical Medicine, University of Oulu, Kuopio, Finland ; Clinical Research Center, Oulu University Hospital, Kuopio, Finland.

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http://dx.doi.org/10.1159/000351859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776392PMC
September 2013

GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia.

Front Hum Neurosci 2013 26;7:461. Epub 2013 Aug 26.

Department of Neurology, Institute of Clinical Medicine, University of Oulu Oulu, Finland ; Department of Neurology, Oulu University Hospital Oulu, Finland.

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http://dx.doi.org/10.3389/fnhum.2013.00461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3752460PMC
August 2013

CRESTing the ALS mountain.

Nat Neurosci 2013 Jul;16(7):774-5

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

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http://dx.doi.org/10.1038/nn.3444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565517PMC
July 2013

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

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

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

Hum Mol Genet 2011 Mar 6;20(5):867-79. Epub 2010 Dec 6.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1093/hmg/ddq526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033179PMC
March 2011