@article {378,
	title = {Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.},
	journal = {Am J Med Genet A},
	volume = {173},
	year = {2017},
	month = {2017 Nov},
	pages = {3098-3103},
	abstract = {<p>Mutations in GLE1 underlie Lethal Congenital Contracture syndrome (LCCS) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD). Both LCCS and LAAHD are characterized by reduced fetal movements, congenital contractures, and a severe form of motor neuron disease that results in fetal death or death in the perinatal period, respectively. We identified bi-allelic mutations in GLE1 in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period. Each affected child had missense variants predicted to result in amino acid substitutions near the C-terminus of GLE1 that are predicted to disrupt protein-protein interaction or GLE1 protein targeting. We hypothesize that mutations that preserve function of the coiled-coil domain of GLE1 cause LAAHD whereas mutations that abolish the function of the coiled-coil domain cause LCCS. The phenotype of LAAHD is now expanded to include multiple individuals surviving into childhood suggesting that LAAHD is a misnomer and should be re-named Arthrogryposis with Anterior Horn Cell Disease (AAHD).</p>},
	keywords = {Arthrogryposis, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Male, Motor Disorders, Motor Neuron Disease, Mutation, Nucleocytoplasmic Transport Proteins, Pedigree, Pregnancy},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.38406},
	author = {Said, Edith and Chong, Jessica X and Hempel, Maja and Denecke, Jonas and Soler, Paul and Strom, Tim and Nickerson, Deborah A and Kubisch, Christian and Bamshad, Michael J and Lessel, Davor}
}
@article {268,
	title = {Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.},
	journal = {Science},
	volume = {343},
	year = {2014},
	month = {2014 Jan 31},
	pages = {506-511},
	abstract = {<p>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. </p>},
	keywords = {Animals, Axons, Biological Transport, Cohort Studies, Exome, Gene Regulatory Networks, Genetic Association Studies, Humans, Motor Neuron Disease, Mutation, Neurons, Nucleotides, Pyramidal Tracts, Sequence Analysis, DNA, Spastic Paraplegia, Hereditary, Synapses, Transcriptome, Zebrafish},
	issn = {1095-9203},
	doi = {10.1126/science.1247363},
	author = {Novarino, Gaia and Fenstermaker, Ali G and Zaki, Maha S and Hofree, Matan and Silhavy, Jennifer L and Heiberg, Andrew D and Abdellateef, Mostafa and Rosti, Basak and Scott, Eric and Mansour, Lobna and Masri, Amira and Kayserili, H{\"u}lya and Al-Aama, Jumana Y and Abdel-Salam, Ghada M H and Karminejad, Ariana and Kara, Majdi and Kara, Bulent and Bozorgmehri, Bita and Ben-Omran, Tawfeg and Mojahedi, Faezeh and El Din Mahmoud, Iman Gamal and Bouslam, Naima 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, P S and Azam, Matloob and G{\"u}nel, Murat and Caglayan, Ahmet and Bilguvar, Kaya and Tolun, Aslihan and Issa, Mahmoud Y and Schroth, Jana and Spencer, Emily G and Rosti, Rasim O and Akizu, Naiara and Vaux, Keith K and Johansen, Anide and Koh, Alice A and Megahed, Hisham and Durr, Alexandra and Brice, Alexis and Stevanin, Giovanni and Gabriel, Stacy B and Ideker, Trey and Gleeson, Joseph G}
}
