与FIG4相关的疾病，表现为快速进展性肌萎缩侧索硬化症。 - Suppr

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超能文献

FIG4-associated disease manifesting as rapidly progressive amyotrophic lateral sclerosis.

作者信息

Mendes Ferreira Vítor, Caetano André, Santos Luís, Fernandes Marco

机构信息

Neurology Department, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

NOVA Medical School, Universidade Nova de Lisboa, Lisbon, Portugal.

出版信息

Neurol Sci. 2024 Sep;45(9):4609-4610. doi: 10.1007/s10072-024-07542-4. Epub 2024 May 2.

DOI:10.1007/s10072-024-07542-4

PMID:38695966

Abstract

摘要

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本文引用的文献

Case report: A variant of the gene with rapidly progressive amyotrophic lateral sclerosis.

Front Neurol. 2022 Aug 24;13:984866. doi: 10.3389/fneur.2022.984866. eCollection 2022.

Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis.

Lancet Neurol. 2022 May;21(5):480-493. doi: 10.1016/S1474-4422(21)00465-8. Epub 2022 Mar 22.

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

Eur J Hum Genet. 2017 Feb;25(3):324-331. doi: 10.1038/ejhg.2016.186. Epub 2017 Jan 4.

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Am J Hum Genet. 2013 May 2;92(5):781-91. doi: 10.1016/j.ajhg.2013.03.020. Epub 2013 Apr 25.

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Brain. 2011 Jul;134(Pt 7):1959-71. doi: 10.1093/brain/awr148.

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010.

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