The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease
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Cites
Thompson, J. D., Higgins, D. G., & Gibson, T. J. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.22.4673 · Cited by 64,617
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W. O., & Cardon, L. R. (2002) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,354
PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis
O'Connell, J. R., & Weeks, D. E. (1998) · The American Journal of Human Genetics · doi:10.1086/301904 · Cited by 2,056
Structural and Functional Diversity of Connexin Genes in the Mouse and Human Genome
Willecke, K., Eiberger, J., Degen, J., Eckardt, D., Romualdi, A., Güldenagel, M., Deutsch, U., & Söhl, G. (2002) · Biological Chemistry · doi:10.1515/bc.2002.076 · Cited by 1,158
Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. O., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., & Fischbeck, K. H. (1993) · Science · doi:10.1126/science.8266101 · Cited by 1,066
Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
Paznekas, W. A., Boyadjiev, S. A., Shapiro, R. E., Daniels, O., Wollnik, B., Keegan, C. E., Innis, J. W., Dinulos, M. B., Christian, C., Hannibal, M. C., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/346090 · Cited by 625
Connexins Are Critical for Normal Myelination in the CNS
Menichella, D. M., Goodenough, D. A., Sirkowski, E., Scherer, S. S., & Paul, D. L. (2003) · The Journal of Neuroscience · doi:10.1523/jneurosci.23-13-05963.2003 · Cited by 303
Odermatt, B., Wellershaus, K., Wallraff, A., Seifert, G., Degen, J., Euwens, C., Fuss, B., Büssow, H., Schilling, K., Steinhäuser, C., et al. (2003) · The Journal of Neuroscience · doi:10.1523/jneurosci.23-11-04549.2003 · Cited by 260
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Clinical European Network on Brain Dysmyelinating Disease†, Cailloux, F., Gauthier-Barichard, F., Mimault, C., Isabelle, V., Courtois, V., Giraud, G., Dastugue, B., & Boespflug-Tanguy, O. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200537 · Cited by 191
Cited by
Verkhratsky, A., & Nedergaard, M. (2018) · Physiological Reviews · doi:10.1152/physrev.00042.2016 · Cited by 1,678
Myelination and support of axonal integrity by glia
Nave, K.-A. (2010) · Nature · doi:10.1038/nature09614 · Cited by 1,062
Myelination of the Nervous System: Mechanisms and Functions
Nave, K.-A., & Werner, H. B. (2014) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100913-013101 · Cited by 983
Myelin in the Central Nervous System: Structure, Function, and Pathology
Stadelmann, C., Timmler, S., Barrantes-Freer, A., & Simons, M. (2019) · Physiological Reviews · doi:10.1152/physrev.00031.2018 · Cited by 728
Myelination and the trophic support of long axons
Nave, K.-A. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2797 · Cited by 648
Metadata
- Authors
- Uhlenberg, B., Schuelke, M., Rüschendorf, F., Ruf, N., Kaindl, A. M., Henneke, M., Thiele, H., Stoltenburg-Didinger, G., Aksu, F., Topaloğlu, H., Nürnberg, P., Hübner, C., Weschke, B., & Gärtner, J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2004-08
- Volume
- 75
- Issue
- 2
- Pages
- 251-260
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2036638493
- Cited by
- 271
- References
- 23
- FWCI
- 5.36
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease. https://app.cochat.ai/papers/10.1086/422763
- The paper
- Uhlenberg, B., Schuelke, M., Rüschendorf, F., Ruf, N., Kaindl, A. M., Henneke, M., Thiele, H., Stoltenburg-Didinger, G., Aksu, F., Topaloğlu, H., Nürnberg, P., Hübner, C., Weschke, B., & Gärtner, J. (2004). Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease. The American Journal of Human Genetics. https://doi.org/10.1086/422763
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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.
