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Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia

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Acknowledgments

This work was partially supported by grants from Istituto Superiore di Sanità “Programma Italia-USA—year 2006” on Rare Diseases.

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Authors and Affiliations

  1. Department of Neuroscience, Catholic University of Sacred Heart, L.go F. Vito, 1, 00168, Rome, Italy

    Gabriella Silvestri, Marcella Masciullo, Anna Modoni & Massimo Santoro

  2. Don Carlo Gnocchi Foundation, ONLUS, Milan, Italy

    Gabriella Silvestri, Marcella Masciullo & Massimo Santoro

  3. II School of Medicine, University La Sapienza, Rome, Italy

    Maria Piane, Camilla Savio & Luciana Chessa

Authors
  1. Gabriella Silvestri
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  2. Marcella Masciullo
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  3. Maria Piane
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  4. Camilla Savio
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  5. Anna Modoni
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  6. Massimo Santoro
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  7. Luciana Chessa
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Corresponding author

Correspondence to Gabriella Silvestri.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Family tree. The probands, IV:1 and IV:2 are marked with black symbols. (PDF 13 kb)

415_2010_5583_MOESM2_ESM.pdf

Mutation analysis of the ATM gene on DNA samples from one of the probands (IV-2) and one of their unaffected relatives (III-6). (PDF 42 kb)

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Silvestri, G., Masciullo, M., Piane, M. et al. Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia. J Neurol 257, 1738–1740 (2010). https://doi.org/10.1007/s00415-010-5583-7

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  • DOI: https://doi.org/10.1007/s00415-010-5583-7

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