article Open AccessTop 1% cited

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Neuron · 2011 · Vol. 72(2) · pp. 257–268

Alan E. Renton✉(National Institutes of Health)Elisa Majounie(National Institutes of Health)Adrian J. Waite(Cardiff University)Javier Simón‐Sánchez(Erasmus MC)Sara Rollinson(University of Manchester)J. Raphael Gibbs(National Institutes of Health)Jennifer C. Schymick(National Institutes of Health)Hannu Laaksovirta(University of Helsinki)John C. van Swieten(Erasmus MC)Liisa Myllykangas(University of Helsinki)Hannu Kalimo(University of Helsinki)Anders Paetau(University of Helsinki)Yevgeniya Abramzon(National Institutes of Health)Anne M. Remes(Oulu University Hospital)Alice Kaganovich(National Institutes of Health)Sonja W. Scholz(National Institutes of Health)Jamie Duckworth(National Institutes of Health)Jinhui Ding(National Institutes of Health)Daniel W. Harmer(Illumina (United States))Dena G. Hernandez(National Institutes of Health)Janel O. Johnson(National Institutes of Health)Kin Y. Mok(National Hospital for Neurology and Neurosurgery)Mina Ryten(National Hospital for Neurology and Neurosurgery)Daniah Trabzuni(National Hospital for Neurology and Neurosurgery)Rita Guerreiro(National Hospital for Neurology and Neurosurgery)Richard W. Orrell(University College London)James Neal(Cardiff University)Alex Murray(University Hospital of Wales)Justin Pearson(Cardiff University)Iris E. Jansen(Amsterdam UMC Location Vrije Universiteit Amsterdam)David Sondervan(Amsterdam UMC Location Vrije Universiteit Amsterdam)Harro Seelaar(Erasmus MC)Derek J. Blake(Cardiff University)Kate Young(University of Manchester)Nicola Halliwell(University of Manchester)Janis Bennion Callister(University of Manchester)Greg Toulson(University of Manchester)Anna Richardson(University of Manchester)Alexander Gerhard(University of Manchester)Julie S. Snowden(University of Manchester)David Mann(University of Manchester)David Neary(University of Manchester)Michael A. Nalls(National Institutes of Health)Terhi Peuralinna(University of Helsinki)Lilja Jansson(University of Helsinki)Veli‐Matti Isoviita(University of Helsinki)Anna-Lotta Kaivorinne(Oulu University Hospital)Maarit Hölttä‐Vuori(University of Helsinki)Elina Ikonen(University of Helsinki)Raimo Sulkava(University of Eastern Finland)Michael Benatar(University of Miami)Joanne Wuu(University of Miami)Adriano Chiò(University of Turin)Gabriella RestagnoGiuseppe Borghero(University of Cagliari)Mario SabatelliDavid Heckerman(Microsoft (United States))Ekaterina Rogaeva(University of Toronto)Lorne Zinman(Sunnybrook Health Science Centre)Jeffrey D. Rothstein(Johns Hopkins University)Michael Sendtner(University of Würzburg)Carsten Drepper(University of Würzburg)Evan E. Eichler(Howard Hughes Medical Institute)Can Alkan(Howard Hughes Medical Institute)Ziedulla Abdullaev(National Cancer Institute)Svetlana Pack(National Cancer Institute)Amalia Dutra(National Institutes of Health)Evgenia Pak(National Institutes of Health)John Hardy(National Hospital for Neurology and Neurosurgery)Andrew Singleton(National Institutes of Health)Nigel Williams(Cardiff University)Peter Heutink(Amsterdam UMC Location Vrije Universiteit Amsterdam)Stuart Pickering‐Brown(University of Manchester)Huw R. Morris(Royal Gwent Hospital)Pentti J. Tienari(University of Helsinki)Bryan J. Traynor(National Institutes of Health)

View via DOI Full-text PDF

Amyotrophic Lateral Sclerosis Research Neurogenetic and Muscular Disorders Research Neurological diseases and metabolismC9orf72Frontotemporal dementiaAmyotrophic lateral sclerosisGeneticsTrinucleotide repeat expansionHaplotypeBiologyTARDBPLocus (genetics)Population

MeSH terms

AllelesAmyotrophic Lateral SclerosisChromosomes, Human, Pair 9FemaleFinlandGenotypeHaplotypesHumansMalePedigreeMicrosatellite RepeatsGenetic Predisposition to DiseasePolymorphism, Single NucleotideFrontotemporal Dementia