Literature DB >> 27629539

A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia.

Wang Yuliang1, Wang Yuan1, Wang Xuezhen1, Ma He1, Zheng Qi1, Chen Jinbo2.   

Abstract

Entities:  

Keywords:  Frameshift mutation; Hereditary spastic paraplegia; Ischemic stroke; SPAST

Mesh：

Substances：

Year:  2016        PMID： 27629539     DOI： 10.1007/s10072-016-2712-9

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


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  5 in total

1.  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

2.  Clinical features of hereditary spastic paraplegia due to spastin mutation.

Authors:  C J McDermott; C E Burness; J Kirby; L E Cox; D G Rao; C Hewamadduma; B Sharrack; M Hadjivassiliou; P F Chinnery; A Dalton; P J Shaw
Journal:  Neurology       Date:  2006-07-11       Impact factor: 9.910

3.  Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

Authors:  J E Nielsen; B Johnsen; P Koefoed; K H Scheuer; M Grønbech-Jensen; I Law; K Krabbe; A Nørremølle; H Eiberg; H Søndergård; M Dam; J F Rehfeld; C Krarup; O B Paulson; L Hasholt; S A Sørensen
Journal:  Eur J Neurol       Date:  2004-12       Impact factor: 6.089

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

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