Publication
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Janneke H.M. Schuurs-Hoeijmakers, Michael T. Geraghty, Erik-Jan Kamsteeg, Salma Ben-Salem, Susanne T. de Bot, Bonnie Nijhof, Ilse I.G.M. van de Vondervoort, Marinette van der Graaf, Anna Castells Nobau, Irene Otte-Höller, Sascha Vermeer, Amanda C. Smith, Peter Humphreys, Jeremy Schwartzentruber, Bassam R. Ali, Saeed A. Al-Yahyaee, Said Tariq, Thachillath Pramathan, Riad Bayoumi, Hubertus P.H. Kremer, Bart P. van de Warrenburg, Willem M.R. van den Akker, Christian Gilissen, Joris A. Veltman, Irene M. Janssen, Anneke T. Vulto-van Silfhout, Saskia van der Velde-Visser, Dirk J. Lefeber, Adinda Diekstra, Corrie E. Erasmus, Michèl A. Willemsen, Lisenka E.L.M. Vissers, Martin Lammens, Hans van Bokhoven, Han G. Brunner, Ron A. Wevers, Annette Schenck, Lihadh Al-Gazali, Bert B.A. de Vries, Arjan P.M. de Brouwer
The American Journal of Human Genetics, December 2012, Elsevier
DOI: 10.1016/j.ajhg.2012.10.017