| dc.contributor.author | Chow, Clement Y. | |
| dc.contributor.author | Landers, John E. | |
| dc.contributor.author | Bergren, Sarah K. | |
| dc.contributor.author | Sapp, Peter C. | |
| dc.contributor.author | Grant, Adrienne E. | |
| dc.contributor.author | Jones, Julie M. | |
| dc.contributor.author | Everett, Lesley | |
| dc.contributor.author | Lenk, Guy M. | |
| dc.contributor.author | McKenna-Yasek, Diane M. | |
| dc.contributor.author | Weisman, Lois S. | |
| dc.contributor.author | Figlewicz, Denise | |
| dc.contributor.author | Brown, Robert H. | |
| dc.contributor.author | Meisler, Miriam H. | |
| dc.date.accessioned | 2015-04-02T20:28:32Z | |
| dc.date.available | 2015-04-02T20:28:32Z | |
| dc.date.issued | 2009-01 | |
| dc.date.submitted | 2008-12 | |
| dc.identifier.issn | 00029297 | |
| dc.identifier.uri | http://hdl.handle.net/1721.1/96364 | |
| dc.description.abstract | Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P2 are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases. | en_US |
| dc.description.sponsorship | Howard Hughes Medical Institute (Investigator) | en_US |
| dc.description.sponsorship | National Institutes of Health (U.S.) (grant GM24872) | en_US |
| dc.description.sponsorship | National Institutes of Health (U.S.) (grant NS050557) | en_US |
| dc.description.sponsorship | National Institutes of Health (U.S.) (grant NIH NS050557) | en_US |
| dc.description.sponsorship | National Institutes of Health (U.S.) (grant NIH NS050641) | en_US |
| dc.description.sponsorship | National Institutes of Health (U.S.) (grant NIH T32 GM007544) | en_US |
| dc.description.sponsorship | Pierre L. de Bourgknecht ALS Research Foundation | en_US |
| dc.description.sponsorship | Project ALS Foundation | en_US |
| dc.description.sponsorship | Angel Fund | en_US |
| dc.language.iso | en_US | |
| dc.publisher | Elsevier B.V. | en_US |
| dc.relation.isversionof | http://dx.doi.org/10.1016/j.ajhg.2008.12.010 | en_US |
| dc.rights | Creative Commons Attribution | en_US |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/ | en_US |
| dc.source | Elsevier | en_US |
| dc.title | Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS | en_US |
| dc.type | Article | en_US |
| dc.identifier.citation | Chow, Clement Y., John E. Landers, Sarah K. Bergren, Peter C. Sapp, Adrienne E. Grant, Julie M. Jones, Lesley Everett, et al. “Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS.” The American Journal of Human Genetics 84, no. 1 (January 2009): 85–88. | en_US |
| dc.contributor.department | Massachusetts Institute of Technology. Department of Biology | en_US |
| dc.contributor.mitauthor | Sapp, Peter C. | en_US |
| dc.relation.journal | American Journal of Human Genetics | en_US |
| dc.eprint.version | Final published version | en_US |
| dc.type.uri | http://purl.org/eprint/type/JournalArticle | en_US |
| eprint.status | http://purl.org/eprint/status/PeerReviewed | en_US |
| dspace.orderedauthors | Chow, Clement Y.; Landers, John E.; Bergren, Sarah K.; Sapp, Peter C.; Grant, Adrienne E.; Jones, Julie M.; Everett, Lesley; Lenk, Guy M.; McKenna-Yasek, Diane M.; Weisman, Lois S.; Figlewicz, Denise; Brown, Robert H.; Meisler, Miriam H. | en_US |
| mit.license | PUBLISHER_CC | en_US |
| mit.metadata.status | Complete | |
