1 |
Renton AE, Chio A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014;17:17-23.
DOI
|
2 |
Kim HJ, Oh KW, Kwon MJ, Oh SI, Park JS, Kim YE, et al. Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing. Neurobiol Aging 2016;37:209. e9-e16.
|
3 |
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 2007;448:68-72.
DOI
|
4 |
Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 2009;84:85-88.
DOI
|
5 |
Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 2005;65:586-590.
DOI
|
6 |
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet 2013;92:781-791.
DOI
|
7 |
Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, et al. FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. Eur J Hum Genet 2017;25:324-331.
DOI
|
8 |
Massman PJ, Sims J, Cooke N, Haverkamp LJ, Appel V, Appel SH. Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1996;61:450-455.
DOI
|