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A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

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References

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Acknowledgements

We are grateful to all the patients and their families for participating. The DNA and Cell Bank of IFR70 is acknowledged for the preparation of the DNA samples. This study was supported by grants from the French National Institute for Health and Medical Research, the VERUM foundation (A.B.), the GIS/Rare Diseases Institute (A02191DS-SPATAX; A.D.), Lilly (Japan; M.N.), the French Foreign Ministry (M.N.), la Fondation Recherche Médicale (M.N.), Collège de Médecine des Hôpitaux de Paris (P.R.), and European Neurological Society (P.R.).

The experiments performed comply with current legislation in France.

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Authors and Affiliations

  1. INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpêtrière Hospital, Paris, France

    Michito Namekawa, Isabelle Nelson, Pascale Ribai, Alexandra Dürr, Elodie Denis, Giovanni Stevanin, Merle Ruberg & Alexis Brice

  2. Department of Genetics Cytogenetics and Embryology, AP-HP, Salpêtrière Hospital, Paris, France

    Pascale Ribai, Alexandra Dürr, Giovanni Stevanin & Alexis Brice

  3. Federation of Neurology, AP-HP, Salpêtrière Hospital, Paris, France

    Alexis Brice

  4. Salpêtrière Medical School, Pierre and Marie Curie University, Paris, France

    Alexis Brice

  5. INSERM U679 (former 289), Hôpital de la Salpêtrière, 47, Boulevard de l'Hôpital, 75651, Paris Cedex 13, France

    Alexis Brice

Authors
  1. Michito Namekawa
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  2. Isabelle Nelson
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  3. Pascale Ribai
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  4. Alexandra Dürr
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  5. Elodie Denis
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  6. Giovanni Stevanin
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  7. Merle Ruberg
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  8. Alexis Brice
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Corresponding author

Correspondence to Alexis Brice.

Electronic supplementary material

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Supplement 1

c.715C and c.1483C which are frequently mutated in SPG3A are methylated: results of a bisulfite analysis (PDF 397 kb)

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Namekawa, M., Nelson, I., Ribai, P. et al. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics 7, 131–132 (2006). https://doi.org/10.1007/s10048-006-0028-2

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  • DOI: https://doi.org/10.1007/s10048-006-0028-2

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