FUS mutations in sporadic amyotrophic lateral sclerosis

Rossella Spataro; Giovanni Luigi Mancardi; Shiao-Lin Lai; Jennifer C. Schymick; Kalliopi Marinou; Ilaria Bartolomei; Amelia Conte; Federica Lombardo; Dietrich A. Stephan; Yevgeniya Abramzon; Allissa Dillman; Patrizia Sola; Maria Rosaria Monsurro; Andrea Calvo; Jessica Mandrioli; Travis Dunckley; Claudia Caponnetto; Stefania Battistini; Bryan J. Traynor; Mario Sabatelli; Gabriella Restagno; Andrea Calvo; Adriano Chiò; Mark Cookson; Fabrizio Salvi; Gabriele Mora; Fabio Giannini; Gioacchino Tedeschi

FUS mutations in sporadic amyotrophic lateral sclerosis

Rossella Spataro, Giovanni Luigi Mancardi, Shiao-Lin Lai, Jennifer C. Schymick, Kalliopi Marinou, Ilaria Bartolomei, Amelia Conte, Federica Lombardo, Dietrich A. Stephan, Yevgeniya Abramzon, Allissa Dillman, Patrizia Sola, Maria Rosaria Monsurro, Andrea Calvo, Jessica Mandrioli, Travis Dunckley, Claudia Caponnetto, Stefania Battistini, Bryan J. Traynor, Mario SabatelliGabriella Restagno, Andrea Calvo, Adriano Chiò, Mark Cookson, Fabrizio Salvi, Gabriele Mora, Fabio Giannini, Gioacchino Tedeschi

Biomedicina, Neuroscienze e Diagnostica avanzata

Risultato della ricerca: Article › peer review

62 Citazioni (Scopus)

Abstract

Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. © 2010 .

Lingua originale	English
pagine (da-a)	550.e1-550.e4
Numero di pagine	4
Rivista	Neurobiology of Aging
Volume	32
Stato di pubblicazione	Published - 2011

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Spataro, R., Mancardi, G. L., Lai, S-L., Schymick, J. C., Marinou, K., Bartolomei, I., Conte, A., Lombardo, F., Stephan, D. A., Abramzon, Y., Dillman, A., Sola, P., Monsurro, M. R., Calvo, A., Mandrioli, J., Dunckley, T., Caponnetto, C., Battistini, S., Traynor, B. J., ... Tedeschi, G. (2011). FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 32, 550.e1-550.e4.

FUS mutations in sporadic amyotrophic lateral sclerosis. / Spataro, Rossella; Mancardi, Giovanni Luigi; Lai, Shiao-Lin; Schymick, Jennifer C.; Marinou, Kalliopi; Bartolomei, Ilaria; Conte, Amelia; Lombardo, Federica; Stephan, Dietrich A.; Abramzon, Yevgeniya; Dillman, Allissa; Sola, Patrizia; Monsurro, Maria Rosaria; Calvo, Andrea; Mandrioli, Jessica; Dunckley, Travis; Caponnetto, Claudia; Battistini, Stefania; Traynor, Bryan J.; Sabatelli, Mario; Restagno, Gabriella; Calvo, Andrea; Chiò, Adriano; Cookson, Mark; Salvi, Fabrizio; Mora, Gabriele; Giannini, Fabio; Tedeschi, Gioacchino.

In: Neurobiology of Aging, Vol. 32, 2011, pag. 550.e1-550.e4.

Risultato della ricerca: Article › peer review

Spataro, R, Mancardi, GL, Lai, S-L, Schymick, JC, Marinou, K, Bartolomei, I, Conte, A, Lombardo, F, Stephan, DA, Abramzon, Y, Dillman, A, Sola, P, Monsurro, MR, Calvo, A, Mandrioli, J, Dunckley, T, Caponnetto, C, Battistini, S, Traynor, BJ, Sabatelli, M, Restagno, G, Calvo, A, Chiò, A, Cookson, M, Salvi, F, Mora, G, Giannini, F & Tedeschi, G 2011, 'FUS mutations in sporadic amyotrophic lateral sclerosis', Neurobiology of Aging, vol. 32, pagg. 550.e1-550.e4.

Spataro, Rossella ; Mancardi, Giovanni Luigi ; Lai, Shiao-Lin ; Schymick, Jennifer C. ; Marinou, Kalliopi ; Bartolomei, Ilaria ; Conte, Amelia ; Lombardo, Federica ; Stephan, Dietrich A. ; Abramzon, Yevgeniya ; Dillman, Allissa ; Sola, Patrizia ; Monsurro, Maria Rosaria ; Calvo, Andrea ; Mandrioli, Jessica ; Dunckley, Travis ; Caponnetto, Claudia ; Battistini, Stefania ; Traynor, Bryan J. ; Sabatelli, Mario ; Restagno, Gabriella ; Calvo, Andrea ; Chiò, Adriano ; Cookson, Mark ; Salvi, Fabrizio ; Mora, Gabriele ; Giannini, Fabio ; Tedeschi, Gioacchino. / FUS mutations in sporadic amyotrophic lateral sclerosis. In: Neurobiology of Aging. 2011 ; Vol. 32. pagg. 550.e1-550.e4.

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abstract = "Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. {\textcopyright} 2010 .",

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T1 - FUS mutations in sporadic amyotrophic lateral sclerosis

AU - Spataro, Rossella

AU - Mancardi, Giovanni Luigi

AU - Lai, Shiao-Lin

AU - Schymick, Jennifer C.

AU - Marinou, Kalliopi

AU - Bartolomei, Ilaria

AU - Conte, Amelia

AU - Lombardo, Federica

AU - Stephan, Dietrich A.

AU - Abramzon, Yevgeniya

AU - Dillman, Allissa

AU - Sola, Patrizia

AU - Monsurro, Maria Rosaria

AU - Calvo, Andrea

AU - Mandrioli, Jessica

AU - Dunckley, Travis

AU - Caponnetto, Claudia

AU - Battistini, Stefania

AU - Traynor, Bryan J.

AU - Sabatelli, Mario

AU - Restagno, Gabriella

AU - Calvo, Andrea

AU - Chiò, Adriano

AU - Cookson, Mark

AU - Salvi, Fabrizio

AU - Mora, Gabriele

AU - Giannini, Fabio

AU - Tedeschi, Gioacchino

PY - 2011

Y1 - 2011

N2 - Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. © 2010 .

AB - Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. © 2010 .

KW - FUS

KW - amyotrophic lateral sclerosis

KW - genetics

KW - FUS

KW - amyotrophic lateral sclerosis

KW - genetics

UR - http://hdl.handle.net/10447/55742

M3 - Article

VL - 32

SP - 550.e1-550.e4

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -

FUS mutations in sporadic amyotrophic lateral sclerosis

Abstract

All Science Journal Classification (ASJC) codes

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