A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

Francesco Saccà; Giorgia Puorro; Antonella Antenora; Angela Marsili; Alessandra Denaro; Raffaele Piro; Pierpaolo Sorrentino; Chiara Pane; Alessandra Tessa; Vincenzo Brescia Morra; Sergio Cocozza; Giuseppe De Michele; Filippo M. Santorelli; Alessandro Filla

doi:10.1371/journal.pone.0017627

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Open Access

Peer-reviewed

Research Article

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

Francesco Saccà ,

* E-mail: francesco.sacca@unina.it

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Giorgia Puorro,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Antonella Antenora,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Angela Marsili,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Alessandra Denaro,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Raffaele Piro,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Pierpaolo Sorrentino,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Chiara Pane,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Alessandra Tessa,

Affiliation Molecular Medicine, IRCCS Stella Maris, Pisa, Italy
⨯
Vincenzo Brescia Morra,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Sergio Cocozza,

Affiliation Department of Cellular and Molecular Biology, University Federico II, Naples, Italy
⨯
Giuseppe De Michele,

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯
Filippo M. Santorelli,

Affiliation Molecular Medicine, IRCCS Stella Maris, Pisa, Italy
⨯
Alessandro Filla

Affiliation Department of Neurological Sciences, University Federico II, Naples, Italy
⨯

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

Francesco Saccà,
Giorgia Puorro,
Antonella Antenora,
Angela Marsili,
Alessandra Denaro,
Raffaele Piro,
Pierpaolo Sorrentino,
Chiara Pane,
Alessandra Tessa,
Vincenzo Brescia Morra

Published: March 11, 2011
https://doi.org/10.1371/journal.pone.0017627

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Point mutation
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