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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

The Lancet Neurology · 2012 · Vol. 11(4) · pp. 323–330

Elisa Majounie(National Institutes of Health)Alan E. Renton(National Institutes of Health)Kin Y. Mok(University College London)Elise G.P. Dopper(Amsterdam UMC Location VUmc)Adrian J. Waite(Cardiff University)Sara Rollinson(University of Manchester)Adriano Chiò(University of Turin)Gabriella Restagno(Ospedale Regina Margherita)Nayia Nicolaou(Amsterdam UMC Location VUmc)Javier Simón‐Sánchez(Erasmus MC)John C. van Swieten(Amsterdam UMC Location VUmc)Yevgeniya Abramzon(National Institute on Aging)Janel O. Johnson(National Institutes of Health)Michael Sendtner(University of Würzburg)Roger Pamphlett(University of Sydney)Richard W. Orrell(National Hospital for Neurology and Neurosurgery)Simon Mead(University College London)Katie Sidle(National Hospital for Neurology and Neurosurgery)Henry Houlden(University College London)Jonathan D. Rohrer(National Hospital for Neurology and Neurosurgery)Karen Morrison(University of Birmingham)Hardev Pall(University Hospitals Birmingham NHS Foundation Trust)Kevin Talbot(University of Oxford)Olaf Ansorge(University of Oxford)Dena G. Hernandez(National Institutes of Health)Sampath Arepalli(National Institute on Aging)Mario SabatelliGabriele Mora(Fondazione Salvatore Maugeri)Massimo Corbo(Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda)Fabio Giannini(University of Siena)Andrea Calvo(University of Turin)Elisabet Englund(Lund University)Giuseppe Borghero(University of Cagliari)Gianluca Floris(University of Cagliari)Anne M. Remes(Oulu University Hospital)Hannu Laaksovirta(University of Helsinki)Leo McCluskey(University of Pennsylvania)John Q. Trojanowski(University of Pennsylvania)Vivianna M. Van Deerlin(University of Pennsylvania)Gerard D. Schellenberg(University of Pennsylvania)Michael A. Nalls(National Institute on Aging)Vivian E. Drory(Tel Aviv Sourasky Medical Center)Chin‐Song Lu(Chang Gung Memorial Hospital)Tu‐Hsueh Yeh(Linkou Chang Gung Memorial Hospital)Hiroyuki Ishiura(University of Tokyo Hospital)Yuji Takahashi(University of Tokyo Hospital)Shoji Tsuji(University of Tokyo Hospital)Isabelle Le Ber(Sorbonne Université)Alexis Brice(Inserm)Carsten Drepper(University of Würzburg)Nigel Williams(Cardiff University)Janine Kirby(University of Sheffield)Pamela J. Shaw(University of Sheffield)John Hardy(University College London)Pentti J. Tienari(University of Helsinki)Peter Heutink(Amsterdam UMC Location VUmc)Huw R. Morris(Aneurin Bevan University Health Board)Stuart Pickering‐Brown(University of Manchester)Bryan J. Traynor✉(National Institute on Aging)

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Abstract

Full funding sources listed at end of paper (see Acknowledgments).

Amyotrophic Lateral Sclerosis Research Neurogenetic and Muscular Disorders Research Parkinson's Disease Mechanisms and TreatmentsC9orf72Frontotemporal dementiaAmyotrophic lateral sclerosisPenetranceTrinucleotide repeat expansionDementiaHaplotypeFamily historyMedicineGenetics

MeSH terms

AdolescentAdultAgedAged, 80 and overAmyotrophic Lateral SclerosisChildChild, PreschoolChromosomes, Human, Pair 9Cross-Sectional StudiesFemaleGenotypeHumansMaleMiddle AgedCohort Studies

Funding

Microsoft Research
Compagnia di San Paolo
Johns Hopkins University
Helsingin ja Uudenmaan Sairaanhoitopiiri
Finska Läkaresällskapet
Wellcome Trust
NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
National Institute for Health and Care Research
Motor Neurone Disease Association
Newcastle University
Deutsche Forschungsgemeinschaft
Agence Nationale de la Recherche
Hersenstichting
Suomalainen Lääkäriseura Duodecim
Stichting Dioraphte
National Institutes of Health
Medical Research Council
National Health and Medical Research Council
National Institute of Neurological Disorders and Stroke