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Hereditary spastic paraplegias: membrane traffic and the motor pathway
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“Strikingly, the majority of the proteins they encode have a role in intracellular membrane traffic, with at least 8 HSP proteins localising to endosomes [6,7].”
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“Strikingly, the majority of the proteins they encode have a role in intracellular membrane traffic, with at least 8 HSP proteins localising to endosomes [6,7].”
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NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
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Self-citationGuelly, 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-citationSensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Gießelmann, S., Beil, F. T., et al. (2014) · Brain · doi:10.1093/brain/awt357 · Cited by 109
Beetz, C., Johnson, A., Schuh, A. L., Thakur, S., Varga, R.-E., Fothergill, T., Hertel, N., Bomba-Warczak, E., Thiele, H., Nürnberg, G., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1217197110 · Cited by 106
Snouwaert, J. N., Church, R. J., Jania, L., Nguyen, M., Wheeler, M. L., Saintsing, A., Mieczkowski, P., Manuel de Villena, F. P., Armao, D., Moy, S. S., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.06.118 · Cited by 52
Freeman, C., Seaman, M. N. J., & Reid, E. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.10.011 · Cited by 50
Self-citationCourtland, J. L., Bradshaw, T. W., Waitt, G., Soderblom, E. J., Ho, T., Rajab, A., Vancini, R., Kim, I. H., & Soderling, S. H. (2021) · eLife · doi:10.7554/elife.61590 · Cited by 49
Yagi, T., Ito, D., & Suzuki, N. (2016) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlw009 · Cited by 33
Axonal Organelles as Molecular Platforms for Axon Growth and Regeneration after Injury
Petrova, V., Nieuwenhuis, B., Fawcett, J. W., & Eva, R. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22041798 · Cited by 32
Sensing of nutrients by CPT1C regulates late endosome/lysosome anterograde transport and axon growth
Palomo-Guerrero, M., Fadó, R., Casas, M., Pérez-Montero, M., Baena, M., Helmer, P. O., Domínguez, J. L., Roig, A., Serra, D., Hayen, H., et al. (2019) · eLife · doi:10.7554/elife.51063 · Cited by 30
S113R mutation in Slc33a1 leads to neurodegeneration and augmented BMP signaling in a mouse model
Liu, P., Jiang, B., Ma, J., Lin, P., Zhang, Y., Shao, C., Sun, W., & Gong, Y. (2016) · Disease Models & Mechanisms · doi:10.1242/dmm.026880 · Cited by 18
Metadata
- Authors
- Blackstone, C., O'Kane, C. J., & Reid, E.
- Venue
- Nature Reviews Neuroscience
- Published
- 2010-12-08
- Volume
- 12
- Issue
- 1
- Pages
- 31-42
- ISSN
- 1471-003X
- 1471-0048
- Cited by
- 210
- References
- 7
- Language
- en
- Update notices
- erratum (2011-01-20)
- Licence
- www.springer.com/tdm (tdm)
- www.springer.com/tdm (vor)
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 ›
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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.