|
|
|
|
| LEADER |
02103 am a22004213u 4500 |
| 001 |
96364 |
| 042 |
|
|
|a dc
|
| 100 |
1 |
0 |
|a Chow, Clement Y.
|e author
|
| 100 |
1 |
0 |
|a Massachusetts Institute of Technology. Department of Biology
|e contributor
|
| 100 |
1 |
0 |
|a Sapp, Peter C.
|e contributor
|
| 700 |
1 |
0 |
|a Landers, John E.
|e author
|
| 700 |
1 |
0 |
|a Bergren, Sarah K.
|e author
|
| 700 |
1 |
0 |
|a Sapp, Peter C.
|e author
|
| 700 |
1 |
0 |
|a Grant, Adrienne E.
|e author
|
| 700 |
1 |
0 |
|a Jones, Julie M.
|e author
|
| 700 |
1 |
0 |
|a Everett, Lesley
|e author
|
| 700 |
1 |
0 |
|a Lenk, Guy M.
|e author
|
| 700 |
1 |
0 |
|a McKenna-Yasek, Diane M.
|e author
|
| 700 |
1 |
0 |
|a Weisman, Lois S.
|e author
|
| 700 |
1 |
0 |
|a Figlewicz, Denise
|e author
|
| 700 |
1 |
0 |
|a Brown, Robert H.
|e author
|
| 700 |
1 |
0 |
|a Meisler, Miriam H.
|e author
|
| 245 |
0 |
0 |
|a Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
|
| 260 |
|
|
|b Elsevier B.V.,
|c 2015-04-02T20:28:32Z.
|
| 856 |
|
|
|z Get fulltext
|u http://hdl.handle.net/1721.1/96364
|
| 520 |
|
|
|a 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.
|
| 520 |
|
|
|a Howard Hughes Medical Institute (Investigator)
|
| 520 |
|
|
|a National Institutes of Health (U.S.) (grant GM24872)
|
| 520 |
|
|
|a National Institutes of Health (U.S.) (grant NS050557)
|
| 520 |
|
|
|a National Institutes of Health (U.S.) (grant NIH NS050557)
|
| 520 |
|
|
|a National Institutes of Health (U.S.) (grant NIH NS050641)
|
| 520 |
|
|
|a National Institutes of Health (U.S.) (grant NIH T32 GM007544)
|
| 520 |
|
|
|a Pierre L. de Bourgknecht ALS Research Foundation
|
| 520 |
|
|
|a Project ALS Foundation
|
| 520 |
|
|
|a Angel Fund
|
| 546 |
|
|
|a en_US
|
| 655 |
7 |
|
|a Article
|
| 773 |
|
|
|t American Journal of Human Genetics
|
