Literature DB >> 27942873

Identification of a novel SPG4 tandem base substitution in a Chinese hereditary spastic paraplegia family.

Guohua Zhao1, Xiaomin Liu2, Peifang Jiang3.   

Abstract

Entities:  

Keywords:  Hereditary spastic paraplegia; Mutation; SPAST gene

Mesh：

Substances：

Year:  2016        PMID： 27942873     DOI： 10.1007/s10072-016-2792-6

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


× No keyword cloud information.
  5 in total

1.  A new and more accurate estimate of the rate of concurrent tandem-base substitution mutations in the human germline: ∼0.4% of the single-nucleotide substitution mutation rate.

Authors:  Jian-Min Chen; David N Cooper; Claude Férec
Journal:  Hum Mutat       Date:  2014-01-16       Impact factor: 4.878

Review 2.  Pure hereditary spastic paraplegia.

Authors:  E Reid
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Authors:  J Hazan; N Fonknechten; D Mavel; C Paternotte; D Samson; F Artiguenave; C S Davoine; C Cruaud; A Dürr; P Wincker; P Brottier; L Cattolico; V Barbe; J M Burgunder; J F Prud'homme; A Brice; B Fontaine; B Heilig; J Weissenbach
Journal:  Nat Genet       Date:  1999-11       Impact factor: 38.330

Review 4.  Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Authors:  Joanna M Solowska; Peter W Baas
Journal:  Brain       Date:  2015-06-20       Impact factor: 13.501

5.  Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Authors:  Moneef Shoukier; Juergen Neesen; Simone M Sauter; Loukas Argyriou; Nadine Doerwald; D V Krishna Pantakani; Ashraf U Mannan
Journal:  Eur J Hum Genet       Date:  2008-08-13       Impact factor: 4.246
  5 in total
  1 in total

1.  News on the journal Neurological Sciences in 2017.

Authors:  Ilaria Di Donato; Antonio Federico
Journal:  Neurol Sci       Date:  2018-01       Impact factor: 3.307
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.