The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
A developmental and genetic classification for malformations of cortical development: update 2012
Open accessAbstract
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics and imaging has resulted in an explosive increase in our knowledge of cerebral cortex development and in the number and types of malformations of cortical development that have been reported. These advances continue to modify our perception of these malformations. This review addresses recent changes in our perception of these disorders and proposes a modified classification based upon updates in our knowledge of cerebral cortical development.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
The Tuberous Sclerosis Complex
Crino, P. B., Nathanson, K. L., & Henske, E. P. (2006) · New England Journal of Medicine · doi:10.1056/nejmra055323 · Cited by 1,793
Neurogenic radial glia in the outer subventricular zone of human neocortex
Hansen, D. V., Lui, J. H., Parker, P. R. L., & Kriegstein, A. R. (2010) · Nature · doi:10.1038/nature08845 · Cited by 1,388
O'Driscoll, M., Ruiz-Perez, V. L., Woods, C. G., Jeggo, P. A., & Goodship, J. A. (2003) · Nature Genetics · doi:10.1038/ng1129 · Cited by 794
Smart, I. H. M. (2002) · Cerebral Cortex · doi:10.1093/cercor/12.1.37 · Cited by 687
Miyoshi, G., Hjerling-Leffler, J., Karayannis, T., Sousa, V. H., Butt, S. J. B., Battiste, J., Johnson, J. E., Machold, R. P., & Fishell, G. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.4515-09.2010 · Cited by 559
Peroxisome biogenesis disorders
Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., & Moser, H. W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.09.010 · Cited by 522
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature · doi:10.1038/nature09327 · Cited by 503
Guiding Neuronal Cell Migrations
Marin, O., Valiente, M., Ge, X., & Tsai, L.-H. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a001834 · Cited by 417
Retinoic acid from the meninges regulates cortical neuron generation.
Siegenthaler, J. A., Ashique, A. M., Zarbalis, K., Patterson, K. P., Hecht, J. H., Kane, M. A., Folias, A. E., Choe, Y., May, S. R., Kume, T., et al. (2009) · Cell · doi:10.1016/j.cell.2009.10.004 · Cited by 402
Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427563 · Cited by 373
Zweier, C., Peippo, M. M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., Reardon, W., Saraiva, J., Cabral, A., Göhring, I., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/515583 · Cited by 317
Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., et al. (2010) · Cell · doi:10.1016/j.cell.2010.06.001 · Cited by 309
Self-citationLuo, R., Jeong, S.-J., Jin, Z., Strokes, N., Li, S., & Piao, X. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1104821108 · Cited by 290
Contributions of cortical subventricular zone to the development of the human cerebral cortex
Zecevic, N., Chen, Y., & Filipovic, R. (2005) · The Journal of Comparative Neurology · doi:10.1002/cne.20714 · Cited by 269
GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination
Li, S., Jin, Z., Koirala, S., Bu, L., Xu, L., Hynes, R. O., Walsh, C. A., Corfas, G., & Piao, X. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.0853-08.2008 · Cited by 241
Gilfillan, G. D., Selmer, K. K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., Kroken, M., Mattingsdal, M., Egeland, T., Stenmark, H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.013 · Cited by 232
Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration
Volpe, J. J., & Adams, R. D. (1972) · Acta Neuropathologica · doi:10.1007/bf00686900 · Cited by 225
Stancik, E. K., Navarro-Quiroga, I., Sellke, R., & Haydar, T. F. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.6131-09.2010 · Cited by 186
Gradients in the Brain: The Control of the Development of Form and Function in the Cerebral Cortex
Sansom, S. N., & Livesey, F. J. (2009) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a002519 · Cited by 148
O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.012 · Cited by 145
Self-citationBahi-Buisson, N., Poirier, K., Boddaert, N., Fallet-Bianco, C., Specchio, N., Bertini, E., Caglayan, O., Lascelles, K., Elie, C., Rambaud, J., et al. (2010) · Brain · doi:10.1093/brain/awq259 · Cited by 144
Frontal cortex subdivision patterning is coordinately regulated by Fgf8, Fgf17, and Emx2
Cholfin, J. A., & Rubenstein, J. L. R. (2008) · Journal of Comparative Neurology · doi:10.1002/cne.21709 · Cited by 137 · cited 1×
“embryology of cerebral cortical development The cerebral cortex is a modular structure (Cholfin and Rubenstein, 2007; Cholfin and Rubenstein, 2008; Hoch et al., 2009): modules of neurons are induced in a neuroepithelial sheet and subsequently differentiate, migrate and organize into a functioning…”
BackgroundRegulation of Radial Glial Survival by Signals from the Meninges
Radakovits, R., Barros, C. S., Belvindrah, R., Patton, B., & Muller, U. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.5537-08.2009 · Cited by 135
Stanco, A., Szekeres, C., Patel, N., Rao, S., Campbell, K., Kreidberg, J. A., Polleux, F., & Anton, E. S. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0811343106 · Cited by 118
The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis
Hevner, R. F. (2005) · Acta Neuropathologica · doi:10.1007/s00401-005-1059-8 · Cited by 106
Gene networks controlling early cerebral cortex arealization
Mallamaci, A., & Stoykova, A. (2006) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2006.04634.x · Cited by 95
Inoue, T., Ogawa, M., Mikoshiba, K., & Aruga, J. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.5735-07.2008 · Cited by 76
Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia
Garbelli, R., Rossini, L., Moroni, R. F., Watakabe, A., Yamamori, T., Tassi, L., Bramerio, M., Russo, G. L., Frassoni, C., & Spreafico, R. (2009) · Neurology · doi:10.1212/wnl.0b013e3181af3397 · Cited by 33
Cited by
Human organoids: model systems for human biology and medicine
Kim, J., Koo, B.-K., & Knoblich, J. A. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-0259-3 · Cited by 2,187
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2329 · Cited by 703
Malformations of cortical development: clinical features and genetic causes
Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70040-7 · Cited by 513
Self-citationExpression Analysis Highlights AXL as a Candidate Zika Virus Entry Receptor in Neural Stem Cells
Nowakowski, T. J., Pollen, A. A., Di Lullo, E., Sandoval-Espinosa, C., Bershteyn, M., & Kriegstein, A. R. (2016) · Cell Stem Cell · doi:10.1016/j.stem.2016.03.012 · Cited by 529
Cerebral cortex expansion and folding: what have we learned?
Fernández, V., Llinares‐Benadero, C., & Borrell, V. (2016) · The EMBO Journal · doi:10.15252/embj.201593701 · Cited by 361
Metadata
- Authors
- Barkovich, A. J., Guerrini, R., Kuzniecky, R. I., Jackson, G. D., & Dobyns, W. B.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-03-16
- Volume
- 135
- Issue
- 5
- Pages
- 1348-1369
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2138304538
- Cited by
- 1,104
- References
- 29
- FWCI
- 64.15
- Type
- journal article
- Language
- en
- Open access
- hybrid
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.