@article{1916,
  abstract     = {Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.},
  author       = {Novarino, Gaia and Fenstermaker, Ali and Zaki, Maha and Hofree, Matan and Silhavy, Jennifer and Heiberg, Andrew and Abdellateef, Mostafa and Rosti, Başak and Scott, Eric and Mansour, Lobna and Masri, Amira and Kayserili, Hülya and Al Aama, Jumana and Abdel Salam, Ghada and Karminejad, Ariana and Kara, Majdi and Kara, Bülent and Bozorgmehri, Bita and Ben Omran, Tawfeg and Mojahedi, Faezeh and Mahmoud, Iman and Bouslam, Naïma and Bouhouche, Ahmed and Benomar, Ali and Hanein, Sylvain and Raymond, Laure and Forlani, Sylvie and Mascaro, Massimo and Selim, Laila and Shehata, Nabil and Al Allawi, Nasir and Bindu, Parayil and Azam, Matloob and Günel, Murat and Caglayan, Ahmet and Bilgüvar, Kaya and Tolun, Aslihan and Issa, Mahmoud and Schroth, Jana and Spencer, Emily and Rosti, Rasim and Akizu, Naiara and Vaux, Keith and Johansen, Anide and Koh, Alice and Megahed, Hisham and Dürr, Alexandra and Brice, Alexis and Stévanin, Giovanni and Gabriel, Stacy and Ideker, Trey and Gleeson, Joseph},
  journal      = {Science},
  number       = {6170},
  pages        = {506 -- 511},
  publisher    = {American Association for the Advancement of Science},
  title        = {{Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders}},
  doi          = {10.1126/science.1247363},
  volume       = {343},
  year         = {2014},
}