The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I
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Citations
Cites
Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., et al. (2009) · Nature Genetics · doi:10.1038/ng.464 · Cited by 260
Self-citation
Cited by
Sphingolipid and Glycosphingolipid Metabolic Pathways in the Era of Sphingolipidomics
Merrill, A. H. (2011) · Chemical Reviews · doi:10.1021/cr2002917 · Cited by 785
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
Klein, C. J., Botuyan, M.-V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., et al. (2011) · Nature Genetics · doi:10.1038/ng.830 · Cited by 405
Geekiyanage, H., & Chan, C. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.3883-11.2011 · Cited by 254
Guelly, C., Zhu, P.-P., Leonardis, L., Papić, L., Zidar, J., Schabhüttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.12.003 · Cited by 143
Self-citationLamari, F., Mochel, F., Sedel, F., & Saudubray, J. M. (2013) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9509-7 · Cited by 104
Metadata
- Authors
- Rotthier, A., Auer-Grumbach, M., Janssens, K., Baets, J., Penno, A., Almeida-Souza, L., Van Hoof, K., Jacobs, A., De Vriendt, E., Schlotter-Weigel, B., Löscher, W., Vondráček, P., Seeman, P., De Jonghe, P., Van Dijck, P., Jordanova, A., Hornemann, T., & Timmerman, V.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 87
- Issue
- 4
- Pages
- 513-522
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2133552547
- Cited by
- 189
- References
- 1
- FWCI
- 4.21
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I. https://app.cochat.ai/papers/10.1016/j.ajhg.2010.09.010
- The paper
- Rotthier, A., Auer-Grumbach, M., Janssens, K., Baets, J., Penno, A., Almeida-Souza, L., Van Hoof, K., Jacobs, A., De Vriendt, E., Schlotter-Weigel, B., Löscher, W., Vondráček, P., Seeman, P., De Jonghe, P., Van Dijck, P., Jordanova, A., Hornemann, T., & Timmerman, V. (2010). Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2010.09.010
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.
