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  • Janneke H. M. Schuurs-Hoeijmakers, Michael T. Geraghty, +37 authors Arjan P. M. de Brouwer
  • Biology, Medicine
  • American journal of human genetics
  • 2012 (First Published: 1 December 2012)
  • We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellularContinue Reading