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

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 Houlden; Jonathan D. Rohrer; Karen E. Morrison; Hardev Pall; Kevin Talbot; Olaf Ansorge; 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

doi:10.1016/S1474-4422(12)70043-1

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

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 Houlden, Jonathan D. RohrerKaren E. Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, 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

Research output: Contribution to journal › Article › peer-review

992 Citations (Scopus)

Original language	English
Pages (from-to)	323-330
Number of pages	8
Journal	Lancet Neurology
Volume	11
Issue number	4
DOIs	https://doi.org/10.1016/S1474-4422(12)70043-1
Publication status	Published - 01 Apr 2012

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10.1016/S1474-4422(12)70043-1

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Majounie, E., Renton, A. E., Mok, K., Dopper, E. G. P., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., van Swieten, J. C., Abramzon, Y., Johnson, J. O., Sendtner, M., Pamphlett, R., Orrell, R. W., Mead, S., Sidle, K. C., Houlden, H., ... Traynor, B. J. (2012). Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology, 11(4), 323-330. https://doi.org/10.1016/S1474-4422(12)70043-1

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author = "Elisa Majounie and Renton, {Alan E.} and Kin Mok and Dopper, {Elise G.P.} and Adrian Waite and Sara Rollinson and Adriano Chi{\`o} and Gabriella Restagno and Nayia Nicolaou and Javier Simon-Sanchez and {van Swieten}, {John C.} and Yevgeniya Abramzon and Johnson, {Janel O.} and Michael Sendtner and Roger Pamphlett and Orrell, {Richard W.} and Simon Mead and Sidle, {Katie C.} and Henry Houlden and Rohrer, {Jonathan D.} and Morrison, {Karen E.} and Hardev Pall and Kevin Talbot and Olaf Ansorge and Hernandez, {Dena G.} and Sampath Arepalli and Mario Sabatelli and Gabriele Mora and Massimo Corbo and Fabio Giannini and Andrea Calvo and Elisabet Englund and Giuseppe Borghero and Floris, {Gian Luca} and Remes, {Anne M.} and Hannu Laaksovirta and Leo McCluskey and Trojanowski, {John Q.} and {Van Deerlin}, {Vivianna M.} and Schellenberg, {Gerard D.} and Nalls, {Michael A.} and Drory, {Vivian E.} and Chin-Song Lu and Tu-Hsueh Yeh and Hiroyuki Ishiura and Yuji Takahashi and Shoji Tsuji and {Le Ber}, Isabelle and Alexis Brice and Carsten Drepper and Nigel Williams and Janine Kirby and Pamela Shaw and John Hardy and Tienari, {Pentti J.} and Peter Heutink and Morris, {Huw R.} and Stuart Pickering-Brown and Traynor, {Bryan J.}",

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doi = "10.1016/S1474-4422(12)70043-1",

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Majounie, E, Renton, AE, Mok, K, Dopper, EGP, Waite, A, Rollinson, S, Chiò, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, JC, Abramzon, Y, Johnson, JO, Sendtner, M, Pamphlett, R, Orrell, RW, Mead, S, Sidle, KC, Houlden, H, Rohrer, JD, Morrison, KE, Pall, H, Talbot, K, Ansorge, O, Hernandez, DG, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Floris, GL, Remes, AM, Laaksovirta, H, McCluskey, L, Trojanowski, JQ, Van Deerlin, VM, Schellenberg, GD, Nalls, MA, Drory, VE, Lu, C-S, Yeh, T-H, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, PJ, Heutink, P, Morris, HR, Pickering-Brown, S & Traynor, BJ 2012, 'Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study', Lancet Neurology, vol. 11, no. 4, pp. 323-330. https://doi.org/10.1016/S1474-4422(12)70043-1

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T1 - Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

AU - Majounie, Elisa

AU - Renton, Alan E.

AU - Mok, Kin

AU - Dopper, Elise G.P.

AU - Waite, Adrian

AU - Rollinson, Sara

AU - Chiò, Adriano

AU - Restagno, Gabriella

AU - Nicolaou, Nayia

AU - Simon-Sanchez, Javier

AU - van Swieten, John C.

AU - Abramzon, Yevgeniya

AU - Johnson, Janel O.

AU - Sendtner, Michael

AU - Pamphlett, Roger

AU - Orrell, Richard W.

AU - Mead, Simon

AU - Sidle, Katie C.

AU - Houlden, Henry

AU - Rohrer, Jonathan D.

AU - Morrison, Karen E.

AU - Pall, Hardev

AU - Talbot, Kevin

AU - Ansorge, Olaf

AU - Hernandez, Dena G.

AU - Arepalli, Sampath

AU - Sabatelli, Mario

AU - Mora, Gabriele

AU - Corbo, Massimo

AU - Giannini, Fabio

AU - Calvo, Andrea

AU - Englund, Elisabet

AU - Borghero, Giuseppe

AU - Floris, Gian Luca

AU - Remes, Anne M.

AU - Laaksovirta, Hannu

AU - McCluskey, Leo

AU - Trojanowski, John Q.

AU - Van Deerlin, Vivianna M.

AU - Schellenberg, Gerard D.

AU - Nalls, Michael A.

AU - Drory, Vivian E.

AU - Lu, Chin-Song

AU - Yeh, Tu-Hsueh

AU - Ishiura, Hiroyuki

AU - Takahashi, Yuji

AU - Tsuji, Shoji

AU - Le Ber, Isabelle

AU - Brice, Alexis

AU - Drepper, Carsten

AU - Williams, Nigel

AU - Kirby, Janine

AU - Shaw, Pamela

AU - Hardy, John

AU - Tienari, Pentti J.

AU - Heutink, Peter

AU - Morris, Huw R.

AU - Pickering-Brown, Stuart

AU - Traynor, Bryan J.

PY - 2012/4/1

Y1 - 2012/4/1

U2 - 10.1016/S1474-4422(12)70043-1

DO - 10.1016/S1474-4422(12)70043-1

M3 - Article

SN - 1474-4422

VL - 11

SP - 323

EP - 330

JO - Lancet Neurology

JF - Lancet Neurology

IS - 4

ER -