Title |
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
|
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Published in |
Lancet Neurology, March 2012
|
DOI | 10.1016/s1474-4422(12)70043-1 |
Pubmed ID | |
Authors |
Elisa Majounie, Alan E Renton, Kin Mok, Elise GP 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 Houlden, Jonathan D Rohrer, Karen E Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, The Chromosome 9-ALS/FTD Consortium, The French research network on FTLD/FTLD/ALS, The ITALSGEN Consortium, Dena G Hernandez, Sampath Arepalli, Mario Sabatelli, 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 |
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). |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 19% |
Japan | 2 | 13% |
Netherlands | 2 | 13% |
United Kingdom | 2 | 13% |
Italy | 1 | 6% |
Venezuela, Bolivarian Republic of | 1 | 6% |
Unknown | 5 | 31% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 12 | 75% |
Scientists | 3 | 19% |
Practitioners (doctors, other healthcare professionals) | 1 | 6% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 5 | <1% |
United Kingdom | 5 | <1% |
Korea, Republic of | 3 | <1% |
Spain | 2 | <1% |
France | 1 | <1% |
Netherlands | 1 | <1% |
Austria | 1 | <1% |
Australia | 1 | <1% |
South Africa | 1 | <1% |
Other | 5 | <1% |
Unknown | 984 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 195 | 19% |
Student > Bachelor | 145 | 14% |
Researcher | 137 | 14% |
Student > Master | 117 | 12% |
Student > Doctoral Student | 70 | 7% |
Other | 150 | 15% |
Unknown | 195 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 195 | 19% |
Neuroscience | 172 | 17% |
Agricultural and Biological Sciences | 166 | 16% |
Biochemistry, Genetics and Molecular Biology | 142 | 14% |
Chemistry | 18 | 2% |
Other | 85 | 8% |
Unknown | 231 | 23% |