The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
Abstract
OBJECTIVE: To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD). METHODS: The authors performed a genome-wide linkage analysis of a four-generation, 50-member Scandinavian family in which five individuals were diagnosed with ALS and nine with FTD. Linkage calculations assuming autosomal dominant inheritance of a single neurodegenerative disease manifesting as either ALS or FTD with age-dependent penetrance were performed. Further analyses for ALS alone and FTD alone were performed. A parametric logarithm of odds (lod) score of 2.0 or greater was required for further study of a potential locus and crossover (haplotype) analysis. RESULTS: A new ALS-FTD locus was identified between markers D9s1870 and D9s1791 on human chromosome 9p21.3-p13.3. A maximum multipoint lod score of 3.00 was obtained between markers D9s1121 and D9s2154. Crossover analysis indicates this region covers approximately 21.8 cM, or 14Mb. CONCLUSIONS: A locus on chromosome 9p21.3-p13.3 is linked to ALS-FTD.
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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
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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
Arai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T., Mori, H., Mann, D., Tsuchiya, K., Yoshida, M., Hashizume, Y., et al. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.10.093 · Cited by 2,732
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
Self-citationKiernan, M. C., Vucic, S., Cheah, B. C., Turner, M. R., Eisen, A., Hardiman, O., Burrell, J. R., & Zoing, M. C. (2011) · The Lancet · doi:10.1016/s0140-6736(10)61156-7 · Cited by 2,603
Metadata
- Authors
- Morita, M., Al-Chalabi, A., Andersen, P. M., Hosler, B., Sapp, P., Englund, E., Mitchell, J. E., Habgood, J. J., de Belleroche, J., Xi, J., Jongjaroenprasert, W., Horvitz, H. R., Gunnarsson, L. G., & Brown, R. H.
- Venue
- Neurology
- Published
- 2006-03-28
- Volume
- 66
- Issue
- 6
- Pages
- 839-844
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2130202191
- Cited by
- 357
- References
- 47
- FWCI
- 21.12
- Type
- journal article
- Language
- en
- Open access
- closed
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- Morita, M., Al-Chalabi, A., Andersen, P. M., Hosler, B., Sapp, P., Englund, E., Mitchell, J. E., Habgood, J. J., de Belleroche, J., Xi, J., Jongjaroenprasert, W., Horvitz, H. R., Gunnarsson, L. G., & Brown, R. H. (2006). A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology. https://doi.org/10.1212/01.wnl.0000200048.53766.b4
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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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