The DOI matches its Crossref record; 97 of the 97 references it cites were found in a registry or an index.
State of play in amyotrophic lateral sclerosis genetics
Open accessAbstract
Considerable progress has been made in unraveling the genetic etiology of amyotrophic lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the third most common neurodegenerative disease overall. Here we review genes implicated in the pathogenesis of motor neuron degeneration and how this new information is changing the way we think about this fatal disorder. Specifically, we summarize current literature of the major genes underlying ALS, SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, C9ORF72 and PFN1, and evaluate the information being gleaned from genome-wide association studies. We also outline emerging themes in ALS research, such as next-generation sequencing approaches to identify de novo mutations, the genetic convergence of familial and sporadic ALS, the proposed oligogenic basis for the disease, and how each new genetic discovery is broadening the phenotype associated with the clinical entity we know as ALS.
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Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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Self-citationTDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
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Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
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Microglia Function in the Central Nervous System During Health and Neurodegeneration
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13 reasons why the brain is susceptible to oxidative stress
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Metadata
- Authors
- Renton, A. E., Chiò, A., & Traynor, B. J.
- Venue
- Nature Neuroscience
- Published
- 2013-12-26
- Volume
- 17
- Issue
- 1
- Pages
- 17-23
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- OpenAlex
- W2066828509
- Cited by
- 1,544
- References
- 97
- FWCI
- 68.77
- Type
- journal article
- Language
- en
- Open access
- bronze
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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