The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
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Citations
Cites
Tissue-Specific Differences in Human Transfer RNA Expression
Dittmar, K. A., Goodenbour, J. M., & Pan, T. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020221 · Cited by 601
Invited article: an MRI-based approach to the diagnosis of white matter disorders
Schiffmann, R., & van der Knaap, M. S. (2009) · Neurology · doi:10.1212/01.wnl.0000343049.00540.c8 · Cited by 553
Self-citationThe expanding RNA polymerase III transcriptome
Dieci, G., Fiorino, G., Castelnuovo, M., Teichmann, M., & Pagano, A. (2007) · Trends in Genetics · doi:10.1016/j.tig.2007.09.001 · Cited by 534
Self-citationScheper, G. C., van der Klok, T., van Andel, R. J., van Berkel, C. G. M., Sissler, M., Smet, J., Muravina, T. I., Serkov, S. V., Uziel, G., Bugiani, M., et al. (2007) · Nature Genetics · doi:10.1038/ng2013 · Cited by 454
Self-citationMutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Dauwerse, J. G., Dixon, J., Seland, S., Ruivenkamp, C. A. L., van Haeringen, A., Hoefsloot, L. H., Peters, D. J. M., Boers, A. C.-D., Daumer-Haas, C., Maiwald, R., et al. (2011) · Nature Genetics · doi:10.1038/ng.724 · Cited by 371
Structure of Eukaryotic RNA Polymerases
Cramer, P., Armache, K.-J., Baumli, S., Benkert, S., Brueckner, F., Buchen, C., Damsma, G. E., Dengl, S., Geiger, S. R., Jasiak, A. J., et al. (2008) · Annual Review of Biophysics · doi:10.1146/annurev.biophys.37.032807.130008 · Cited by 304
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
Steenweg, M. E., Vanderver, A., Blaser, S., Bizzi, A., de Koning, T. J., Mancini, G. M. S., van Wieringen, W. N., Barkhof, F., Wolf, N. I., & van der Knaap, M. S. (2010) · Brain · doi:10.1093/brain/awq257 · Cited by 288
Self-citationTranscription by RNA polymerase III: more complex than we thought
White, R. J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3001 · Cited by 248
Structures of Complete RNA Polymerase II and Its Subcomplex, Rpb4/7
Armache, K.-J., Mitterweger, S., Meinhart, A., & Cramer, P. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m413038200 · Cited by 246
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia
Timmons, M., Tsokos, M., Asab, M. A., Seminara, S., Zirzow, G. C., Kaneski, C. R., Heiss, J. D., van der Knaap, M. S., Vanier, M. T., Schiffmann, R., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000247666.28904.35 · Cited by 100
Self-citation
Cited by
Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C. A., Sanchez-Carpintero, R., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101357 · Cited by 106
Self-citationStamou, M. I., Cox, K. H., & Crowley, W. F. (2015) · Endocrine Reviews · doi:10.1210/er.2015-1045.2016.1.test · Cited by 32
Computational studies on the functional and structural impact of pathogenic mutations in enzymes
Dissanayake, U. C., Roy, A., Maghsoud, Y., Polara, S., Debnath, T., & Cisneros, G. A. (2025) · Protein Science · doi:10.1002/pro.70081 · Cited by 8
Metadata
- Authors
- Bernard, G., Chouery, E., Putorti, M. L., Tétreault, M., Takanohashi, A., Carosso, G., Clément, I., Boespflug-Tanguy, O., Rodriguez, D., Delague, V., Abou Ghoch, J., Jalkh, N., Dorboz, I., Fribourg, S., Teichmann, M., Megarbane, A., Schiffmann, R., Vanderver, A., & Brais, B.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2011-09
- Volume
- 89
- Issue
- 3
- Pages
- 415-423
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2079013447
- Cited by
- 261
- References
- 22
- FWCI
- 5.60
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy. https://app.cochat.ai/papers/10.1016/j.ajhg.2011.07.014
- The paper
- Bernard, G., Chouery, E., Putorti, M. L., Tétreault, M., Takanohashi, A., Carosso, G., Clément, I., Boespflug-Tanguy, O., Rodriguez, D., Delague, V., Abou Ghoch, J., Jalkh, N., Dorboz, I., Fribourg, S., Teichmann, M., Megarbane, A., Schiffmann, R., Vanderver, A., & Brais, B. (2011). Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2011.07.014
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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.
