The DOI matches its Crossref record; 113 of the 113 references it cites were found in a registry or an index.
Genetics of amyotrophic lateral sclerosis: A review
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways, invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but familial forms of the disease (FALS) constitute 10% of the cases. Since the first identification of a causative gene in the 1990s and with recent advances in genetics, more than twenty genes have now been linked to FALS. This increased number of genes led to a tremendous amount of research, clearly contributed to a better understanding of the pathophysiology of this disorder, and paved the way for the development of new therapeutics and new hope for this fatal disease.
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Novel Proteinaceous Infectious Particles Cause Scrapie
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., et al. (2008) · Science · doi:10.1126/science.1154584 · Cited by 2,630
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., et al. (2009) · Science · doi:10.1126/science.1165942 · Cited by 2,564
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Kwiatkowski, T. J., Bosco, D. A., LeClerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J., Kasarskis, E. J., Munsat, T., et al. (2009) · Science · doi:10.1126/science.1166066 · Cited by 2,553
A Controlled Trial of Riluzole in Amyotrophic Lateral Sclerosis
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State of play in amyotrophic lateral sclerosis genetics
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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Velde, C. V., Bouchard, J.-P., Lacomblez, L., Pochigaeva, K., Salachas, F., et al. (2008) · Nature Genetics · doi:10.1038/ng.132 · Cited by 1,544
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The Role of Oxidative Stress in Parkinson’s Disease
Chang, K.-H., & Chen, C.-M. (2020) · Antioxidants · doi:10.3390/antiox9070597 · Cited by 341
Pesticides applied to crops and amyotrophic lateral sclerosis risk in the U.S
Andrew, A., Zhou, J., Gui, J., Harrison, A., Shi, X., Li, M., Guetti, B., Nathan, R., Tischbein, M., Pioro, E. P., et al. (2021) · NeuroToxicology · doi:10.1016/j.neuro.2021.09.004 · Cited by 54
SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?
Marsili, L., Davis, J. L., Espay, A. J., Gilthorpe, J., Williams, C., Kauffman, M. A., & Porollo, A. (2023) · The Cerebellum · doi:10.1007/s12311-023-01527-3 · Cited by 5
Metadata
- Authors
- Mathis, S., Goizet, C., Soulages, A., Vallat, J.-M., & Masson, G. L.
- Venue
- Journal of the Neurological Sciences
- Publisher
- Elsevier BV
- Published
- 2019-04
- Volume
- 399
- Pages
- 217-226
- ISSN
- 0022-510X (ISSN-L)
- OpenAlex
- W2915925525
- Cited by
- 253
- References
- 113
- FWCI
- 20.86
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Mathis, S., Goizet, C., Soulages, A., Vallat, J.-M., & Masson, G. L. (2019). Genetics of amyotrophic lateral sclerosis: A review. Journal of the Neurological Sciences. https://doi.org/10.1016/j.jns.2019.02.030
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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.
