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

Mario Sabatelli, Elisa Majounie, Alan E. Renton, Kin Mok, Elise G.P. Dopper, Adrian Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez, John C. Van Swieten, Yevgeniya Abramzon, Janel O. Johnson, Michael Sendtner, Roger Pamphlett, Richard W. Orrell, Simon Mead, Katie C. Sidle, Henry HouldenJonathan D. Rohrer, Karen E. Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G. Hernandez, Sampath Arepalli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gian Luca Floris, Anne M Remes, Hannu Laaksovirta, Leo Mccluskey, John Q. Trojanowski, Vivianna M. Van Deerlin, Gerard D. Schellenberg, Michael A Nalls, Vivian E Drory, Chin-Song Lu, Tu-Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela Shaw, John Hardy, Pentti J. Tienari, Peter Heutink, Huw R. Morris, Stuart Pickering-Brown, Bryan J Traynor, Gary Adamson, Antony J. Bayer, John Beck, Janis Bennion Callister, Derek J. Blake, Sergiu C. Blumen, John Collinge, Travis Dunckley, John Ealing, Simon East, Lauren Elman, Alexander Gerhard, Rita J. Guerreiro, Katrina Gwinn, Nicola Halliwell, Hisham H. Hamdalla, Christopher Hewitt, Paul Ince, Sibylle Jablonka, Christopher James, Louisa Kent, Jonathan Cooper Knock, Timothy Lynch, Colin Mahoney, David Mann, James Neal, David Norris, Sean O’Dowd, Anna Richardson, Martin Rossor, Jeffrey Rothstein, Sonja W. Scholz, Julie Snowden, Dietrich A. Stephan, Greg Toulson, Martin R Turner, Jason D. Warren, Kate Young, Yi-Hsin Weng, Hung-Chou Kuo, Szu-Chia Lai, Chia-Ling Huang, Agnès Camuzat, Léna Entraingues, Guillot-Noël, Patrice Verpillat, Frédéric Blanc

Risultato della ricerca: Contributo in rivistaArticolo in rivista

721 Citazioni (Scopus)

Abstract

We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Lingua originaleEnglish
pagine (da-a)323-330
Numero di pagine8
RivistaLANCET NEUROLOGY
Volume11
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 9
  • Cohort Studies
  • Cross-Sectional Studies
  • DNA Repeat Expansion
  • Female
  • Frontotemporal Dementia
  • Genetic Loci
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Open Reading Frames
  • Young Adult

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