Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian I Rice; Gabriella M A Forte; Marcin Szynkiewicz; Diana S Chase; Alec Aeby; Mohamed S Abdel-hamid; Sam Ackroyd; Rebecca Allcock; Kathryn M Bailey; Umberto Balottin; Christine Barnerias; Genevieve Bernard; Christine Bodemer; Maria P Botella; Cristina Cereda; Kate E Chandler; Lyvia Dabydeen; Russell C Dale; Corinne De Laet; Christian G E L De Goede; Mireia Del Toro; Laila Effat; Noemi Nunez Enamorado; Elisa Fazzi; Blanca Gener; Madli Haldre; Jean-pierre S-m Lin; John H Livingston; Charles Marques Lourenco; Wilson Marques; Patrick Oades; Pärt Peterson; Magnhild Rasmussen; Agathe Roubertie; Johanna Loewenstein Schmidt; Stavit A Shalev; Rogelio Simon; Ronen Spiegel; Kathryn J Swoboda; Samia A Temtamy; Grace Vassallo; Catheline N Vilain; Julie Vogt; Vanessa Wermenbol; William P Whitehouse; Doriette Soler; Ivana Olivieri; Simona Orcesi; Mona S Aglan; Maha S Zaki; Ghada M H Abdel-salam; Adeline Vanderver; Kai Kisand; Flore Rozenberg; Pierre Lebon; Yanick J Crow

doi:10.1016/S1474-4422(13)70258-8

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, Diana S Chase, Alec Aeby, Mohamed S Abdel-hamid, Sam Ackroyd, Rebecca Allcock, Kathryn M Bailey, Umberto Balottin, Christine Barnerias, Genevieve Bernard, Christine Bodemer, Maria P Botella, Cristina Cereda, Kate E Chandler, Lyvia Dabydeen, Russell C Dale, Corinne De Laet, Christian G E L De GoedeMireia Del Toro, Laila Effat, Noemi Nunez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean-pierre S-m Lin, John H Livingston, Charles Marques Lourenco, Wilson Marques, Patrick Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Loewenstein Schmidt, Stavit A Shalev, Rogelio Simon, Ronen Spiegel, Kathryn J Swoboda, Samia A Temtamy, Grace Vassallo, Catheline N Vilain, Julie Vogt, Vanessa Wermenbol, William P Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona S Aglan, Maha S Zaki, Ghada M H Abdel-salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J Crow

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

Original language	English
Pages (from-to)	1159-1169
Journal	Lancet Neurology
Volume	12
Issue number	12
Early online date	30 Oct 2013
DOIs	https://doi.org/10.1016/S1474-4422(13)70258-8
Publication status	Published - 1 Dec 2013

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10.1016/S1474-4422(13)70258-8

http://linkinghub.elsevier.com/retrieve/pii/S1474442213702588

Cite this

Rice, G. I., Forte, G. M. A., Szynkiewicz, M., Chase, D. S., Aeby, A., Abdel-hamid, M. S., Ackroyd, S., Allcock, R., Bailey, K. M., Balottin, U., Barnerias, C., Bernard, G., Bodemer, C., Botella, M. P., Cereda, C., Chandler, K. E., Dabydeen, L., Dale, R. C., De Laet, C., ... Crow, Y. J. (2013). Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurology, 12(12), 1159-1169. https://doi.org/10.1016/S1474-4422(13)70258-8

@article{ca942cfef8c344f892d1d13e50ef5485,

title = "Assessment of interferon-related biomarkers in Aicardi-Gouti{\`e}res syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study",

author = "Rice, {Gillian I} and Forte, {Gabriella M A} and Marcin Szynkiewicz and Chase, {Diana S} and Alec Aeby and Abdel-hamid, {Mohamed S} and Sam Ackroyd and Rebecca Allcock and Bailey, {Kathryn M} and Umberto Balottin and Christine Barnerias and Genevieve Bernard and Christine Bodemer and Botella, {Maria P} and Cristina Cereda and Chandler, {Kate E} and Lyvia Dabydeen and Dale, {Russell C} and {De Laet}, Corinne and {De Goede}, {Christian G E L} and {Del Toro}, Mireia and Laila Effat and Enamorado, {Noemi Nunez} and Elisa Fazzi and Blanca Gener and Madli Haldre and Lin, {Jean-pierre S-m} and Livingston, {John H} and Lourenco, {Charles Marques} and Wilson Marques and Patrick Oades and P{\"a}rt Peterson and Magnhild Rasmussen and Agathe Roubertie and Schmidt, {Johanna Loewenstein} and Shalev, {Stavit A} and Rogelio Simon and Ronen Spiegel and Swoboda, {Kathryn J} and Temtamy, {Samia A} and Grace Vassallo and Vilain, {Catheline N} and Julie Vogt and Vanessa Wermenbol and Whitehouse, {William P} and Doriette Soler and Ivana Olivieri and Simona Orcesi and Aglan, {Mona S} and Zaki, {Maha S} and Abdel-salam, {Ghada M H} and Adeline Vanderver and Kai Kisand and Flore Rozenberg and Pierre Lebon and Crow, {Yanick J}",

year = "2013",

month = dec,

day = "1",

doi = "10.1016/S1474-4422(13)70258-8",

language = "English",

volume = "12",

pages = "1159--1169",

journal = "Lancet Neurology",

issn = "1474-4422",

publisher = "Elsevier Science",

number = "12",

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Rice, GI, Forte, GMA, Szynkiewicz, M, Chase, DS, Aeby, A, Abdel-hamid, MS, Ackroyd, S, Allcock, R, Bailey, KM, Balottin, U, Barnerias, C, Bernard, G, Bodemer, C, Botella, MP, Cereda, C, Chandler, KE, Dabydeen, L, Dale, RC, De Laet, C, De Goede, CGEL, Del Toro, M, Effat, L, Enamorado, NN, Fazzi, E, Gener, B, Haldre, M, Lin, JS, Livingston, JH, Lourenco, CM, Marques, W, Oades, P, Peterson, P, Rasmussen, M, Roubertie, A, Schmidt, JL, Shalev, SA, Simon, R, Spiegel, R, Swoboda, KJ, Temtamy, SA, Vassallo, G, Vilain, CN, Vogt, J, Wermenbol, V, Whitehouse, WP, Soler, D, Olivieri, I, Orcesi, S, Aglan, MS, Zaki, MS, Abdel-salam, GMH, Vanderver, A, Kisand, K, Rozenberg, F, Lebon, P & Crow, YJ 2013, 'Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study', Lancet Neurology, vol. 12, no. 12, pp. 1159-1169. https://doi.org/10.1016/S1474-4422(13)70258-8

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. / Rice, Gillian I; Forte, Gabriella M A; Szynkiewicz, Marcin et al.
In: Lancet Neurology, Vol. 12, No. 12, 01.12.2013, p. 1159-1169.

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

TY - JOUR

T1 - Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

AU - Rice, Gillian I

AU - Forte, Gabriella M A

AU - Szynkiewicz, Marcin

AU - Chase, Diana S

AU - Aeby, Alec

AU - Abdel-hamid, Mohamed S

AU - Ackroyd, Sam

AU - Allcock, Rebecca

AU - Bailey, Kathryn M

AU - Balottin, Umberto

AU - Barnerias, Christine

AU - Bernard, Genevieve

AU - Bodemer, Christine

AU - Botella, Maria P

AU - Cereda, Cristina

AU - Chandler, Kate E

AU - Dabydeen, Lyvia

AU - Dale, Russell C

AU - De Laet, Corinne

AU - De Goede, Christian G E L

AU - Del Toro, Mireia

AU - Effat, Laila

AU - Enamorado, Noemi Nunez

AU - Fazzi, Elisa

AU - Gener, Blanca

AU - Haldre, Madli

AU - Lin, Jean-pierre S-m

AU - Livingston, John H

AU - Lourenco, Charles Marques

AU - Marques, Wilson

AU - Oades, Patrick

AU - Peterson, Pärt

AU - Rasmussen, Magnhild

AU - Roubertie, Agathe

AU - Schmidt, Johanna Loewenstein

AU - Shalev, Stavit A

AU - Simon, Rogelio

AU - Spiegel, Ronen

AU - Swoboda, Kathryn J

AU - Temtamy, Samia A

AU - Vassallo, Grace

AU - Vilain, Catheline N

AU - Vogt, Julie

AU - Wermenbol, Vanessa

AU - Whitehouse, William P

AU - Soler, Doriette

AU - Olivieri, Ivana

AU - Orcesi, Simona

AU - Aglan, Mona S

AU - Zaki, Maha S

AU - Abdel-salam, Ghada M H

AU - Vanderver, Adeline

AU - Kisand, Kai

AU - Rozenberg, Flore

AU - Lebon, Pierre

AU - Crow, Yanick J

PY - 2013/12/1

Y1 - 2013/12/1

U2 - 10.1016/S1474-4422(13)70258-8

DO - 10.1016/S1474-4422(13)70258-8

M3 - Article

SN - 1474-4422

VL - 12

SP - 1159

EP - 1169

JO - Lancet Neurology

JF - Lancet Neurology

IS - 12

ER -