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

Alan E. Renton; Elisa Majounie; Adrian Waite; Javier Simon-Sanchez; Sara Rollinson; J. Raphael Gibbs; Jennifer C. Schymick; Hannu Laaksovirta; John C. van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M. Remes; Alice Kaganovich; Sonja W. Scholz; Jamie Duckworth; Jinhui Ding; Daniel W. Harmer; Dena G. Hernandez; Janel O. Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J. Guerreiro; Richard W. Orrell; James Neal; Alex Murray; Justin Pearson; Iris E. Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A. Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Pentti J. Tienari; ITALSGEN Consortium

doi:10.1016/j.neuron.2011.09.010

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

Alan E. Renton, Elisa Majounie, Adrian Waite, Javier Simon-Sanchez, Sara Rollinson, J. Raphael Gibbs, Jennifer C. Schymick, Hannu Laaksovirta, John C. van Swieten, Liisa Myllykangas, Hannu Kalimo, Anders Paetau, Yevgeniya Abramzon, Anne M. Remes, Alice Kaganovich, Sonja W. Scholz, Jamie Duckworth, Jinhui Ding, Daniel W. Harmer, Dena G. HernandezJanel O. Johnson, Kin Mok, Mina Ryten, Danyah Trabzuni, Rita J. Guerreiro, Richard W. Orrell, James Neal, Alex Murray, Justin Pearson, Iris E. Jansen, David Sondervan, Harro Seelaar, Derek Blake, Kate Young, Nicola Halliwell, Janis Bennion Callister, Greg Toulson, Anna Richardson, Alex Gerhard, Julie Snowden, David Mann, David Neary, Michael A. Nalls, Terhi Peuralinna, Lilja Jansson, Veli-Matti Isoviita, Anna-Lotta Kaivorinne, Maarit Hölttä-Vuori, Elina Ikonen, Pentti J. Tienari, ITALSGEN Consortium

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

Original language	English
Journal	Neuron
Volume	72
Issue number	2
Pages (from-to)	257-268
Number of pages	12
ISSN	0896-6273
DOIs	https://doi.org/10.1016/j.neuron.2011.09.010
Publication status	Published - 2011
MoE publication type	A1 Journal article-refereed

Fields of Science

AMYOTROPHIC-LATERAL-SCLEROSIS
FRONTOTEMPORAL LOBAR DEGENERATION
HUMAN GENOME
MUTATIONS
TDP-43
DEMENTIA
SUSCEPTIBILITY
ASSOCIATION
POPULATION
COMMON
3124 Neurology and psychiatry

Access to Document

10.1016/j.neuron.2011.09.010

Cite this

Renton, A. E., Majounie, E., Waite, A., Simon-Sanchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., Kalimo, H., Paetau, A., Abramzon, Y., Remes, A. M., Kaganovich, A., Scholz, S. W., Duckworth, J., Ding, J., Harmer, D. W., ... ITALSGEN Consortium (2011). A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron, 72(2), 257-268. https://doi.org/10.1016/j.neuron.2011.09.010

@article{b1ea063dc06e47e386d51c7d78531dfd,

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

keywords = "AMYOTROPHIC-LATERAL-SCLEROSIS, FRONTOTEMPORAL LOBAR DEGENERATION, HUMAN GENOME, MUTATIONS, TDP-43, DEMENTIA, SUSCEPTIBILITY, ASSOCIATION, POPULATION, COMMON, 3124 Neurology and psychiatry",

author = "Renton, \{Alan E.\} and Elisa Majounie and Adrian Waite and Javier Simon-Sanchez and Sara Rollinson and Gibbs, \{J. Raphael\} and Schymick, \{Jennifer C.\} and Hannu Laaksovirta and \{van Swieten\}, \{John C.\} and Liisa Myllykangas and Hannu Kalimo and Anders Paetau and Yevgeniya Abramzon and Remes, \{Anne M.\} and Alice Kaganovich and Scholz, \{Sonja W.\} and Jamie Duckworth and Jinhui Ding and Harmer, \{Daniel W.\} and Hernandez, \{Dena G.\} and Johnson, \{Janel O.\} and Kin Mok and Mina Ryten and Danyah Trabzuni and Guerreiro, \{Rita J.\} and Orrell, \{Richard W.\} and James Neal and Alex Murray and Justin Pearson and Jansen, \{Iris E.\} and David Sondervan and Harro Seelaar and Derek Blake and Kate Young and Nicola Halliwell and Callister, \{Janis Bennion\} and Greg Toulson and Anna Richardson and Alex Gerhard and Julie Snowden and David Mann and David Neary and Nalls, \{Michael A.\} and Terhi Peuralinna and Lilja Jansson and Veli-Matti Isoviita and Anna-Lotta Kaivorinne and Maarit H{\"o}ltt{\"a}-Vuori and Elina Ikonen and Tienari, \{Pentti J.\} and \{ITALSGEN Consortium\}",

year = "2011",

doi = "10.1016/j.neuron.2011.09.010",

language = "English",

volume = "72",

pages = "257--268",

journal = "Neuron",

issn = "0896-6273",

publisher = "Cell Press",

number = "2",

}

Renton, AE, Majounie, E, Waite, A, Simon-Sanchez, J, Rollinson, S, Gibbs, JR, Schymick, JC, Laaksovirta, H, van Swieten, JC, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, AM, Kaganovich, A, Scholz, SW, Duckworth, J, Ding, J, Harmer, DW, Hernandez, DG, Johnson, JO, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, RJ, Orrell, RW, Neal, J, Murray, A, Pearson, J, Jansen, IE, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, JB, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, MA, Peuralinna, T, Jansson, L, Isoviita, V-M, Kaivorinne, A-L, Hölttä-Vuori, M , Ikonen, E , Tienari, PJ & ITALSGEN Consortium 2011, 'A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD', Neuron, vol. 72, no. 2, pp. 257-268. https://doi.org/10.1016/j.neuron.2011.09.010

TY - JOUR

T1 - A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

AU - Renton, Alan E.

AU - Majounie, Elisa

AU - Waite, Adrian

AU - Simon-Sanchez, Javier

AU - Rollinson, Sara

AU - Gibbs, J. Raphael

AU - Schymick, Jennifer C.

AU - Laaksovirta, Hannu

AU - van Swieten, John C.

AU - Myllykangas, Liisa

AU - Kalimo, Hannu

AU - Paetau, Anders

AU - Abramzon, Yevgeniya

AU - Remes, Anne M.

AU - Kaganovich, Alice

AU - Scholz, Sonja W.

AU - Duckworth, Jamie

AU - Ding, Jinhui

AU - Harmer, Daniel W.

AU - Hernandez, Dena G.

AU - Johnson, Janel O.

AU - Mok, Kin

AU - Ryten, Mina

AU - Trabzuni, Danyah

AU - Guerreiro, Rita J.

AU - Orrell, Richard W.

AU - Neal, James

AU - Murray, Alex

AU - Pearson, Justin

AU - Jansen, Iris E.

AU - Sondervan, David

AU - Seelaar, Harro

AU - Blake, Derek

AU - Young, Kate

AU - Halliwell, Nicola

AU - Callister, Janis Bennion

AU - Toulson, Greg

AU - Richardson, Anna

AU - Gerhard, Alex

AU - Snowden, Julie

AU - Mann, David

AU - Neary, David

AU - Nalls, Michael A.

AU - Peuralinna, Terhi

AU - Jansson, Lilja

AU - Isoviita, Veli-Matti

AU - Kaivorinne, Anna-Lotta

AU - Hölttä-Vuori, Maarit

AU - Ikonen, Elina

AU - Tienari, Pentti J.

AU - ITALSGEN Consortium

PY - 2011

Y1 - 2011

KW - AMYOTROPHIC-LATERAL-SCLEROSIS

KW - FRONTOTEMPORAL LOBAR DEGENERATION

KW - HUMAN GENOME

KW - MUTATIONS

KW - TDP-43

KW - DEMENTIA

KW - SUSCEPTIBILITY

KW - ASSOCIATION

KW - POPULATION

KW - COMMON

KW - 3124 Neurology and psychiatry

U2 - 10.1016/j.neuron.2011.09.010

DO - 10.1016/j.neuron.2011.09.010

M3 - Article

SN - 0896-6273

VL - 72

SP - 257

EP - 268

JO - Neuron

JF - Neuron

IS - 2

ER -