The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
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Citations
Cites
Cox, G. A., Mahaffey, C. L., & Frankel, W. N. (1998) · Neuron · doi:10.1016/s0896-6273(00)80652-2 · Cited by 125
Cited by
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Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107
Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Wang, C. H., Finkel, R. S., Bertini, E. S., Schroth, M., Simonds, A., Wong, B., Aloysius, A., Morrison, L., Main, M., Crawford, T. O., et al. (2007) · Journal of Child Neurology · doi:10.1177/0883073807305788 · Cited by 961
Self-citationSkourti-Stathaki, K., Proudfoot, N. J., & Gromak, N. (2011) · Molecular Cell · doi:10.1016/j.molcel.2011.04.026 · Cited by 819
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
Irobi, J., Impe, K. V., Seeman, P., Jordanova, A., Dierick, I., Verpoorten, N., Michalik, A., Vriendt, E. D., Jacobs, A., Gerwen, V. V., et al. (2004) · Nature Genetics · doi:10.1038/ng1328 · Cited by 416
Genetics of amyotrophic lateral sclerosis: an update
Chen, S., Sayana, P., Zhang, X., & Le, W. (2013) · Molecular Neurodegeneration · doi:10.1186/1750-1326-8-28 · Cited by 326
Metadata
- Authors
- Grohmann, K., Schuelke, M., Diers, A., Hoffmann, K., Lucke, B., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Ouvrier, R., Pfeufer, A., Rossi, R., Van Maldergem, L., Wilmshurst, J. M., Wienker, T. F., Sendtner, M., Rudnik-Schöneborn, S., Zerres, K., & Hübner, C.
- Venue
- Nature Genetics
- Published
- 2001-08-13
- Volume
- 29
- Issue
- 1
- Pages
- 75-77
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1536408199
- Cited by
- 346
- References
- 1
- FWCI
- 7.66
- Type
- journal article
- Language
- en
- Open access
- closed
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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.
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How to cite
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- This page
- CoChat. (2026). Citation check: Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. https://app.cochat.ai/papers/10.1038/ng703
- The paper
- Grohmann, K., Schuelke, M., Diers, A., Hoffmann, K., Lucke, B., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Ouvrier, R., Pfeufer, A., Rossi, R., Van Maldergem, L., Wilmshurst, J. M., Wienker, T. F., Sendtner, M., Rudnik-Schöneborn, S., Zerres, K., & Hübner, C. (2001). Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nature Genetics. https://doi.org/10.1038/ng703
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.
