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Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

auteur

Alison Goate

2000 -

Robi D Mitra

Timothy M Miller

Robert H Baloh

gepubliceerd in: Annals of Neurology

publicatiedatum: 2014-11-27

belangrijk thema: amyotrofe laterale sclerose

Cites articles 38

Date

Titel

Auteurs

2014-07-01

Prevalence of amyotrophic lateral sclerosis - United States, 2010-2011.

Centers for Disease Control and Prevention
2014-09-01

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis

Luigi Ferrucci, Andrew B. Singleton, Adriano Chiò, Gabriella Restagno, Bryan Traynor
2014-04-24

Guidelines for investigating causality of sequence variants in human disease

David Dimmock, Heidi L. Rehm, Jay Shendure, Russ Altman, Stylianos Antonarakis, Jeffrey C Barrett, Chris Gunter, Suzanne M. Leal
2013-12-26

State of play in amyotrophic lateral sclerosis genetics

Adriano Chiò, Alan Renton, Bryan Traynor
2013-11-20

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Adriano Chiò, Wim Robberecht, Philip Van Damme, Michael Sendtner, Francesco Saccà, Barbara Castellotti, Paolo Bongioanni, Aleksey Shatunov, Francesca Luisa Conforti, Nicola Ticozzi, Silvana Penco, Massimiliano Filosto, Michael E. Weale, Stefania Corti, Cristina Cereda, Maurizio Inghilleri, Cinzia Gellera, Vincenzo Silani, Mauro Ceroni, Pamela Shaw, Sandro Sorbi, Giacomo P Comi, Orla Hardiman, Gabriele Siciliano, Cathryn Lewis, Isabella Fogh, Christopher Shaw, Karen E Morrison, Ammar Al-Chalabi, Vincent Meininger, Leonard H van den Berg, Letizia Mazzini, Jan H Veldink, Peter M Andersen, Lucia Corrado, Bryan Traynor, Valentina Escott-Price, Ashley R. Jones, Jonathan D Glass, John E Landers, Antonia Ratti, Cinzia Tiloca, Daniela Calini, Stella Gagliardi, Judith Melki, Frank P Diekstra, Robert H Brown
2013-11-01

Clinical neurogenetics: amyotrophic lateral sclerosis

Robert H Baloh
2013-07-23

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

Daniel G Bradley, Orla Hardiman, Russell McLaughlin, Derek W Morris, Susan Byrne, Mark Heverin
2013-04-16

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

Michael Baughn, Carlos Cruchaga, Alison Goate, Robert H Baloh, Janet Cady, Craig Zaidman, Peggy Allred, John Ravits, Alan Pestronk
2013-02-21

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population

James B. Rowe, Sarah Tabrizi, Davina J Hensman Moss, Jonathan D Rohrer, Colin J Mahoney, Pietro Fratta, Pietro Fratta, Nick C Fox, Martin Rossor, Jason D. Warren, John Hodges, Jonathan M Schott, John Hardy, Jon R Beck, John Collinge, Simon Mead, Adrian M Isaacs, James Uphill, Mark Poulter, Katie C Sidle
2013-03

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Jill P. Mesirov, Helga Thorvaldsdóttir
2012-12-01

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

David N. Cooper, Chris Tyler-Smith, Qasim Ayub, 1000 Genomes Project, Matthew Mort
2012-11-01

An integrated map of genetic variation from 1,092 human genomes

Gilean McVean, Gonçalo Abecasis, Richard M. Durbin, Adam Auton, Robert E Handsaker, Vineet Bafna, Klaudia Walter, Andrew G. Clark, Andrea Angius, Matthew Hurles, Gabor T Marth
2012-10-24

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

Gabriele Mora, Adriano Chiò, C. Moglia, Gabriella Restagno, Letizia Mazzini, Maura Brunetti, Lucia Corrado, Bryan Traynor
2012-08-23

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Diane McKenna-Yasek, Claudia Fallini, Max Koppers, Wilfried Rossoll, Elizabeth T Cirulli, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Vincent Meininger, Leonard H van den Berg, Melissa J. Moore, David B. Goldstein, Robert H Brown, John E Landers
2012-05-29

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Marka van Blitterswijk, Leonard H van den Berg, Jan H Veldink
2012-05

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

Chang-Seok Ki
2012-01-31

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience
2012-06-20

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

M. Luigetti, Mario Sabatelli
2012-07-08

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

M. Luigetti, Mario Sabatelli
2011-11-07

A yeast functional screen predicts new candidate ALS disease genes

Dennis W Dickson, Mariely DeJesus-Hernandez, Fadia Ibrahim, Caroline Ingre, Julien Couthouis, Kelly L Williams, Jennifer A. Fifita, Zissimos Mourelatos, James Shorter, John Q. Trojanowski, Rosa Rademakers, Albert C Ludolph, Wim Robberecht, Peter M Andersen, Oliver D King, Neill R Graff-Radford, Ian P Blair, Kevin B Boylan, Lauren Elman, Vivianna M Van Deerlin, Aaron D Gitler, Nancy M Bonini, Leo McCluskey, Zamia Diaz
2011-10-11

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Ammar Al-Chalabi, Peter M Andersen
2011-10-20

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

Daniel Geschwind, Mariely DeJesus-Hernandez, Howard Feldman, Dennis W Dickson, Zbigniew K Wszolek, Rosa Rademakers, Ronald C. Petersen, Bruce L. Miller, William Seeley, Adam L Boxer, David S Knopman, Bradley F Boeve, Neill R Graff-Radford, Keith A Josephs, Ging-Yuek R Hsiung, Kevin B Boylan, Matt Baker, Alexandra Nicholson, NiCole A Finch, Naomi Kouri, Aleksandra Semeniuk-Wojtaś, Pheth Sengdy, Anna M Karydas, Giovanni Coppola, Nicola Rutherford
2011-07-07

Rare-variant association testing for sequencing data with the sequence kernel association test

Michael C Wu, Michael Boehnke, Xihong Lin, Tianxi Cai
2011-01

Integrative genomics viewer

Eric Lander, Gad Getz, Jill P. Mesirov
2011-05-11

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

Marka van Blitterswijk, Leonard H van den Berg
2011-01-05

Proposed criteria for familial amyotrophic lateral sclerosis

Susan Byrne, Russell McLaughlin, Orla Hardiman, Peter Bede, Marwa Elamin, Kevin McKenna, Catherine Lynch
2011-02-22

Performance of mutation pathogenicity prediction methods on missense variants

Mauno Vihinen
2010-11-01

High-throughput discovery of rare insertions and deletions in large cohorts

Todd E Druley, Robi D Mitra, Ingrid B Borecki, Michael A Province
2010-09-22

An estimate of amyotrophic lateral sclerosis heritability using twin data

Ammar Al-Chalabi, Fang Fang, Christopher Shaw, Weimin Ye, Fruhling Rijsdijk, P Nigel Leigh
2010-08-01

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Michael P Hart, Brian S Johnson, John Q. Trojanowski, Aaron D Gitler, Nancy M Bonini, Leo McCluskey
2010-08-01

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

Sarah E Flanagan, Sian Ellard
2009-08-15

The Sequence Alignment/Map format and SAMtools

Richard M. Durbin, Heng Li, Gonçalo Abecasis, Jue Ruan

Artike - wd:Q34945003

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