An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

Maria Teresa Dotti; Rosaria Buccoliero; Andrew Lee; J. Raphael Gorospe; Daniel Flint; Paolo Galluzzi; Silvia Bianchi; Camilla D'Eramo; Sakkubai Naidu; Antonio Federico; Michael Brenner

doi:10.1007/s00415-009-0147-4

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

Maria Teresa Dotti, Rosaria Buccoliero, Andrew Lee, J. Raphael Gorospe, Daniel Flint, Paolo Galluzzi, Silvia Bianchi, Camilla D'Eramo, Sakkubai Naidu, Antonio Federico, Michael Brenner

School of Medicine

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

6 Scopus citations

Original language	English (US)
Pages (from-to)	679-682
Number of pages	4
Journal	Journal of neurology
Volume	256
Issue number	4
DOIs	https://doi.org/10.1007/s00415-009-0147-4
State	Published - Apr 2009

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Dotti, M. T., Buccoliero, R., Lee, A., Gorospe, J. R., Flint, D., Galluzzi, P., Bianchi, S., D'Eramo, C., Naidu, S., Federico, A., & Brenner, M. (2009). An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. Journal of neurology, 256(4), 679-682. https://doi.org/10.1007/s00415-009-0147-4

Dotti, MT, Buccoliero, R, Lee, A, Gorospe, JR, Flint, D, Galluzzi, P, Bianchi, S, D'Eramo, C, Naidu, S, Federico, A & Brenner, M 2009, 'An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant', Journal of neurology, vol. 256, no. 4, pp. 679-682. https://doi.org/10.1007/s00415-009-0147-4

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author = "Dotti, {Maria Teresa} and Rosaria Buccoliero and Andrew Lee and Gorospe, {J. Raphael} and Daniel Flint and Paolo Galluzzi and Silvia Bianchi and Camilla D'Eramo and Sakkubai Naidu and Antonio Federico and Michael Brenner",

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AU - Dotti, Maria Teresa

AU - Buccoliero, Rosaria

AU - Lee, Andrew

AU - Gorospe, J. Raphael

AU - Flint, Daniel

AU - Galluzzi, Paolo

AU - Bianchi, Silvia

AU - D'Eramo, Camilla

AU - Naidu, Sakkubai

AU - Federico, Antonio

AU - Brenner, Michael

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An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

ASJC Scopus subject areas

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