Suppr超能文献

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

作者信息

Wilkinson P A, Simpson M A, Bastaki L, Patel H, Reed J A, Kalidas K, Samilchuk E, Khan R, Warner T T, Crosby A H

出版信息

J Med Genet. 2005 Jan;42(1):80-2. doi: 10.1136/jmg.2004.020172.

Abstract
摘要

相似文献

3
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Ann Neurol. 2005 Apr;57(4):567-71. doi: 10.1002/ana.20416.
4
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
Ann Neurol. 2003 Dec;54(6):796-803. doi: 10.1002/ana.10768.
5
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.
Ann Neurol. 2004 Oct;56(4):579-82. doi: 10.1002/ana.20239.
6
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
Neurology. 2009 Jun 2;72(22):1893-8. doi: 10.1212/WNL.0b013e3181a6086c. Epub 2009 Apr 8.
7
Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.
J Child Neurol. 2007 Feb;22(2):214-7. doi: 10.1177/0883073807300293.
8
[AAA ATPases and hereditary spastic paraplegia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):298-301. doi: 10.3760/cma.j.issn.1003-9406.2009.03.013.
10
A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
Brain. 2006 Sep;129(Pt 9):2332-40. doi: 10.1093/brain/awl110. Epub 2006 May 3.

引用本文的文献

1
When ganglioside pathways go awry: congenital disorders and experimental insights.
J Hum Genet. 2025 Jul 31. doi: 10.1038/s10038-025-01366-6.
2
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.
Neurol Genet. 2025 Feb 28;11(2):e200250. doi: 10.1212/NXG.0000000000200250. eCollection 2025 Apr.
3
Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.
Front Neurosci. 2024 Jun 7;18:1375299. doi: 10.3389/fnins.2024.1375299. eCollection 2024.
4
Disordered testosterone transport in mice lacking the ganglioside GM2/GD2 synthase gene.
FEBS Open Bio. 2023 Sep;13(9):1615-1624. doi: 10.1002/2211-5463.13603. Epub 2023 Apr 6.
5
Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.
Clin Mass Spectrom. 2019 Mar 16;14 Pt B:106-114. doi: 10.1016/j.clinms.2019.03.001. eCollection 2019 Nov.
6
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.
Front Mol Biosci. 2021 Nov 26;8:690899. doi: 10.3389/fmolb.2021.690899. eCollection 2021.
7
A Compound Heterozygous Pathogenic Variant in Is Associated With Axonal Charcot-Marie-Tooth Disease.
J Clin Neurol. 2021 Oct;17(4):534-540. doi: 10.3988/jcn.2021.17.4.534.
9
Ganglioside regulation of AMPA receptor trafficking.
J Neurosci. 2014 Sep 24;34(39):13246-58. doi: 10.1523/JNEUROSCI.1149-14.2014.
10
Human genetic disorders of sphingolipid biosynthesis.
J Inherit Metab Dis. 2015 Jan;38(1):65-76. doi: 10.1007/s10545-014-9736-1. Epub 2014 Aug 21.

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