The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
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Citations
Cites
Ferreirinha, F., Quattrini, A., Pirozzi, M., Valsecchi, V., Dina, G., Broccoli, V., Auricchio, A., Piemonte, F., Tozzi, G., Gaeta, L., et al. (2004) · Journal of Clinical Investigation · doi:10.1172/jci200420138 · Cited by 308
Lipid-binding Proteins in Membrane Digestion, Antigen Presentation, and Antimicrobial Defense
Kolter, T., Winau, F., Schaible, U. E., Leippe, M., & Sandhoff, K. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.r500015200 · Cited by 73
Cited by
Schöndorf, D. C., Aureli, M., McAllister, F. E., Hindley, C. J., Mayer, F., Schmid, B., Sardi, S. P., Valsecchi, M., Hoffmann, S., Schwarz, L. K., et al. (2014) · Nature Communications · doi:10.1038/ncomms5028 · Cited by 543
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Lo Giudice, T., Lombardi, F., Santorelli, F. M., Kawarai, T., & Orlacchio, A. (2014) · Experimental Neurology · doi:10.1016/j.expneurol.2014.06.011 · Cited by 347
Marras, C., Lang, A., van de Warrenburg, B. P., Sue, C. M., Tabrizi, S. J., Bertram, L., Mercimek‐Mahmutoglu, S., Ebrahimi‐Fakhari, D., Warner, T. T., Durr, A., et al. (2016) · Movement Disorders · doi:10.1002/mds.26527 · Cited by 285
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Metadata
- Authors
- Martin, E., Schüle, R., Smets, K., Rastetter, A., Boukhris, A., Loureiro, J. L., Gonzalez, M. A., Mundwiller, E., Deconinck, T., Wessner, M., Jornea, L., Oteyza, A. C., Durr, A., Martin, J.-J., Schöls, L., Mhiri, C., Lamari, F., Züchner, S., De Jonghe, P., Kabashi, E., Brice, A., & Stevanin, G.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2013-02
- Volume
- 92
- Issue
- 2
- Pages
- 238-244
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2031241813
- Cited by
- 180
- References
- 2
- FWCI
- 10.05
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia. https://app.cochat.ai/papers/10.1016/j.ajhg.2012.11.021
- The paper
- Martin, E., Schüle, R., Smets, K., Rastetter, A., Boukhris, A., Loureiro, J. L., Gonzalez, M. A., Mundwiller, E., Deconinck, T., Wessner, M., Jornea, L., Oteyza, A. C., Durr, A., Martin, J.-J., Schöls, L., Mhiri, C., Lamari, F., Züchner, S., De Jonghe, P., . . . Stevanin, G. (2013). Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2012.11.021
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.
