A novel PANK2 gene mutation in a Persian boy: the first report from Iran.

Suppr

超能文献

作者信息

Aryani Omid, Houshmand Massoud, Fatehi Farzad

机构信息

Special Medical Center, Department of Medical Genetics, Tehran, Iran.

出版信息

Clin Neurol Neurosurg. 2013 Jul;115(7):1170-2. doi: 10.1016/j.clineuro.2012.10.004. Epub 2012 Oct 30.

DOI:10.1016/j.clineuro.2012.10.004

PMID:23116688

Abstract

摘要

相似文献

A novel PANK2 gene mutation in a Persian boy: the first report from Iran.

Clin Neurol Neurosurg. 2013 Jul;115(7):1170-2. doi: 10.1016/j.clineuro.2012.10.004. Epub 2012 Oct 30.

Pantothenate-kinase associated neurodegeneration (PKAN) "eye of the tiger" sign.

Pediatr Neurol. 2007 Jan;36(1):70-1. doi: 10.1016/j.pediatrneurol.2006.09.005.

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.

Mov Disord. 2004 Jan;19(1):36-42. doi: 10.1002/mds.10650.

Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor.

Mov Disord. 2010 Jan 30;25(2):245-7. doi: 10.1002/mds.22891.

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

Turk J Pediatr. 2009 Mar-Apr;51(2):161-5.

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

Mov Disord. 2006 Feb;21(2):252-4. doi: 10.1002/mds.20681.

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

Eur J Med Genet. 2013 Nov;56(11):606-8. doi: 10.1016/j.ejmg.2013.08.007. Epub 2013 Sep 25.

Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).

J Magn Reson Imaging. 2012 Apr;35(4):788-94. doi: 10.1002/jmri.22884. Epub 2011 Nov 29.

Pantothenate kinase-associated neurodegeneration: novel mutations in the PANK2 gene in an Argentinean young woman.

Mov Disord. 2010 Oct 15;25(13):2262-4. doi: 10.1002/mds.23063.

Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

Neurol India. 2013 Mar-Apr;61(2):169-70. doi: 10.4103/0028-3886.111129.

引用本文的文献

Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.

Mol Genet Metab. 2019 Dec;128(4):463-469. doi: 10.1016/j.ymgme.2019.09.002. Epub 2019 Sep 12.

A novel homozygous variation in the gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration.

Neurol Int. 2019 Mar 11;11(1):7959. doi: 10.4081/ni.2019.7959.

A Novel Nonsense Mutation in Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.

Int J Mol Cell Med. 2016 Fall;5(4):255-259. Epub 2016 Oct 23.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验