The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Open accessAbstract
Neurodegenerative Genetics: The underlying genetics of neurodegenerative disorders tend not to be well understood. Novarino et al. (p. 506 ; see the Perspective by Singleton ) investigated the underlying genetics of hereditary spastic paraplegia (HSP), a human neurodegenerative disease, by sequencing the exomes of individuals with recessive neurological disorders. Loss-of-function gene mutations in both novel genes and genes previously implicated for this condition were identified, and several were functionally validated.
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965
Self-citationMutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., Nielsen, J. E., Hodges, J. R., Spillantini, M. G., Thusgaard, T., et al. (2005) · Nature Genetics · doi:10.1038/ng1609 · Cited by 822
ConsensusPathDB--a database for integrating human functional interaction networks
Kamburov, A., Wierling, C., Lehrach, H., & Herwig, R. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn698 · Cited by 565
Schlager, M. A., Kapitein, L. C., Grigoriev, I., Burzynski, G. M., Wulf, P. S., Keijzer, N., de Graaff, E., Fukuda, M., Shepherd, I. T., Akhmanova, A., et al. (2010) · The EMBO Journal · doi:10.1038/emboj.2010.51 · Cited by 165
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Luck, K., Kim, D.-K., Lambourne, L., Spirohn, K., Begg, B. E., Bian, W., Brignall, R., Cafarelli, T., Campos-Laborie, F. J., Charloteaux, B., et al. (2020) · Nature · doi:10.1038/s41586-020-2188-x · Cited by 1,197
Axonal transport: cargo-specific mechanisms of motility and regulation
Maday, S., Twelvetrees, A. E., Moughamian, A. J., & Holzbaur, E. L. F. (2014) · Neuron · doi:10.1016/j.neuron.2014.10.019 · Cited by 683
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Greater Middle East Variome Consortium, Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., et al. (2016) · Nature Genetics · doi:10.1038/ng.3592 · Cited by 376
Self-citationSystematic Evaluation of Molecular Networks for Discovery of Disease Genes
Huang, J. K., Carlin, D. E., Yu, M. K., Zhang, W., Kreisberg, J. F., Tamayo, P., & Ideker, T. (2018) · Cell Systems · doi:10.1016/j.cels.2018.03.001 · Cited by 289
Self-citationGangliosides in the Brain: Physiology, Pathophysiology and Therapeutic Applications
Sipione, S., Monyror, J., Galleguillos, D., Steinberg, N., & Kadam, V. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.572965 · Cited by 325
Metadata
- Authors
- Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J. L., Heiberg, A. D., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., Masri, A., Kayserili, H., Al-Aama, J. Y., Abdel-Salam, G. M. H., Karminejad, A., Kara, M., Kara, B., Bozorgmehri, B., Ben-Omran, T., Mojahedi, F., Mahmoud, I. G. E. D., Bouslam, N., Bouhouche, A., Benomar, A., Hanein, S., Raymond, L., Forlani, S., Mascaro, M., Selim, L., Shehata, N., Al-Allawi, N., Bindu, P. S., Azam, M., Gunel, M., Caglayan, A., Bilguvar, K., Tolun, A., Issa, M. Y., Schroth, J., Spencer, E. G., Rosti, R. O., Akizu, N., Vaux, K. K., Johansen, A., Koh, A. A., Megahed, H., Durr, A., Brice, A., Stevanin, G., Gabriel, S. B., Ideker, T., & Gleeson, J. G.
- Venue
- Science
- Published
- 2014-01-31
- Volume
- 343
- Issue
- 6170
- Pages
- 506-511
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2109221324
- Cited by
- 536
- References
- 4
- FWCI
- 25.36
- Type
- journal article
- Language
- en
- Open access
- green
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- Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J. L., Heiberg, A. D., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., Masri, A., Kayserili, H., Al-Aama, J. Y., Abdel-Salam, G. M. H., Karminejad, A., Kara, M., Kara, B., Bozorgmehri, B., Ben-Omran, T., . . . Gleeson, J. G. (2014). Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science. https://doi.org/10.1126/science.1247363
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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