TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis (original) (raw)

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Acknowledgements

We would like to thank all the families involved in this study. We also thank M. Benard, I. Thibault and P. Provencher for sample collection and organization, M. D'Amour and D. Brunet for providing access to their patients and A. Dyck and J. St-Onge for technical support. G.A.R. is funded by the Canadian Institutes of Health Research (CIHR), Muscular Dystrophy Association USA and ALS Association (ALSA), E.K. by ALS Canada and CIHR, N.D. by CIHR, P.N.V. by the Fonds de Recherche en Sante Quebec (FRSQ) and V.M. by the Association Francaise contre les Myopathies France (AMF) and the Association pour la Recherche sur la Sclerose Laterale Amyotrophique (ARS).

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Author notes

  1. Edor Kabashi and Paul N Valdmanis: These authors contributed equally to this work.

Authors and Affiliations

  1. and Department of Medicine, Center of Excellence in Neuromics, Centre Hospitalier de l'Universite de Montreal, University of Montreal, Montreal, H2L4MI, Quebec, Canada
    Edor Kabashi, Paul N Valdmanis, Patrick Dion, Dan Spiegelman, Christine Vande Velde, Nicolas Dupre & Guy A Rouleau
  2. Department of Biology, University of Waterloo, 200 University Avenue West, Waterloo, N2L 3G1, Ontario, Canada
    Brendan J McConkey
  3. Faculty of Medicine, Laval University, Centre Hospitalier Affilié Universitaire de Québec – Enfant-Jesus Hospital, Quebec, G1J1Z4, Canada
    Jean-Pierre Bouchard & Nicolas Dupre
  4. Division Paul Castaigne, Fédération des maladies du système nerveux, Hôpital de la Salpêtrière, Paris, 75651, France
    Lucette Lacomblez, Ksenia Pochigaeva, Francois Salachas, Pierre-Francois Pradat & Vincent Meininger
  5. Unité de Neurologie Comportementale et Dégénérative, Institute of Biology, Montpellier, 34967, France
    William Camu

Authors

  1. Edor Kabashi
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  2. Paul N Valdmanis
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  3. Patrick Dion
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  4. Dan Spiegelman
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  5. Brendan J McConkey
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  6. Christine Vande Velde
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  7. Jean-Pierre Bouchard
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  8. Lucette Lacomblez
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  9. Ksenia Pochigaeva
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  10. Francois Salachas
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  11. Pierre-Francois Pradat
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  12. William Camu
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  13. Vincent Meininger
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  14. Nicolas Dupre
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  15. Guy A Rouleau
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Contributions

E.K. and P.N.V. generated the data, conducted the data analysis, wrote the manuscript and led the project; P.D. participated in the data analysis and review of the manuscript; E.K. and P.D. conducted the functional analysis of lymphoblastoid cell lines derived from individuals with ALS; P.N.V. conducted haplotype and performed 3D modelling; D.S. performed sequence and data analysis; B.J.M. conducted bioinformatic analysis of mutations and reviewed the manuscript; C.V.V. performed functional analysis and reviewed the manuscript. J.-P.B., L.L., K.P., F.S., P.-F.P., W.C., V.M. and N.D. conducted neurological evaluation and family history of individuals with ALS and reviewed the manuscript. G.A.R. conducted neurological evaluation of individuals with ALS, participated in the data analysis, reviewed the manuscript and supervised the project.

Corresponding author

Correspondence toGuy A Rouleau.

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Kabashi, E., Valdmanis, P., Dion, P. et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.Nat Genet 40, 572–574 (2008). https://doi.org/10.1038/ng.132

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