与伴有胼胝体变薄的遗传性痉挛性截瘫相关基因的新型突变c.[453dupA]+[663G>A] - Suppr

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超能文献

Novel mutations c. [453dupA] + [663G > A] of the gene associated with hereditary spastic paraplegia with a thin corpus callosum.

作者信息

Xiong Jianmei, Li Jianyong, Cui Fang

机构信息

Department of Neurology, Hainan Branch of the General Hospital of PLA, Sanya, China.

出版信息

Neurol India. 2017 Jul-Aug;65(4):871-872. doi: 10.4103/neuroindia.NI_1149_16.

DOI:10.4103/neuroindia.NI_1149_16

PMID:28681766

Abstract

摘要

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Novel mutations c. [453dupA] + [663G > A] of the gene associated with hereditary spastic paraplegia with a thin corpus callosum.

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引用本文的文献

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Dec 28;47(12):1729-1732. doi: 10.11817/j.issn.1672-7347.2022.190651.

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Novel mutations c. [453dupA] + [663G > A] of the gene associated with hereditary spastic paraplegia with a thin corpus callosum.

作者信息

Xiong Jianmei, Li Jianyong, Cui Fang

机构信息

Department of Neurology, Hainan Branch of the General Hospital of PLA, Sanya, China.

出版信息

Neurol India. 2017 Jul-Aug;65(4):871-872. doi: 10.4103/neuroindia.NI_1149_16.

DOI:10.4103/neuroindia.NI_1149_16

PMID:28681766

Abstract

摘要

相似文献

Novel mutations c. [453dupA] + [663G > A] of the gene associated with hereditary spastic paraplegia with a thin corpus callosum.

Neurol India. 2017 Jul-Aug;65(4):871-872. doi: 10.4103/neuroindia.NI_1149_16.

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.

Parkinsonism Relat Disord. 2013 Mar;19(3):367-70. doi: 10.1016/j.parkreldis.2012.10.007. Epub 2012 Oct 31.

Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.

Eur J Neurol. 2012 Jan;19(1):e7-8. doi: 10.1111/j.1468-1331.2011.03569.x.

Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.

J Neurol. 2009 Oct;256(10):1714-8. doi: 10.1007/s00415-009-5189-0. Epub 2009 Jun 10.

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

J Neurol. 2014 Sep;261(9):1825-7. doi: 10.1007/s00415-014-7443-3. Epub 2014 Jul 25.

Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.

Mov Disord. 2008 Apr 30;23(6):917-9. doi: 10.1002/mds.21942.

Novel Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum.

Neurol India. 2022 Jan-Feb;70(1):424-426. doi: 10.4103/0028-3886.338730.

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.

Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12.

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928.

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

J Neurol Sci. 2008 Dec 15;275(1-2):92-9. doi: 10.1016/j.jns.2008.07.038. Epub 2008 Oct 2.

引用本文的文献

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Dec 28;47(12):1729-1732. doi: 10.11817/j.issn.1672-7347.2022.190651.

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

BMC Neurol. 2022 May 16;22(1):180. doi: 10.1186/s12883-022-02708-z.