Literature DB >> 16362530

No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene.

Simone M Sauter, Nadine Dörwald, Wolfgang Engel, Jürgen Neesen.   

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Year:  2005        PMID： 16362530     DOI： 10.1007/s00415-005-0074-y

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  11 in total

1.  Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

2.  Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

Authors:  S E Antonarakis
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

3.  Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Authors:  I K Svenson; A E Ashley-Koch; P C Gaskell; T J Riney; W J Cumming; H M Kingston; E L Hogan; R M Boustany; J M Vance; M A Nance; M A Pericak-Vance; D A Marchuk
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

4.  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

5.  Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.

Authors:  F M Santorelli; C Patrono; D Fortini; A Tessa; G Comanducci; E Bertini; A Pierallini; G A Amabile; C Casali
Journal:  Neurology       Date:  2000-09-12       Impact factor: 9.910

6.  Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

Authors:  K D White; P G Ince; M Lusher; J Lindsey; M Cookson; R Bashir; P J Shaw; K M Bushby
Journal:  Neurology       Date:  2000-07-12       Impact factor: 9.910

7.  Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.

Authors:  A Hentati; H X Deng; H Zhai; W Chen; Y Yang; W Y Hung; A C Azim; S Bohlega; R Tandan; C Warner; N G Laing; F Cambi; H Mitsumoto; R P Roos; R M Boustany; M Ben Hamida; F Hentati; T Siddique
Journal:  Neurology       Date:  2000-11-14       Impact factor: 9.910

8.  Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Authors:  J C Lindsey; M E Lusher; C J McDermott; K D White; E Reid; D C Rubinsztein; R Bashir; J Hazan; P J Shaw; K M Bushby
Journal:  J Med Genet       Date:  2000-10       Impact factor: 6.318

9.  Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Authors:  N Fonknechten; D Mavel; P Byrne; C S Davoine; C Cruaud; D Bönsch; D Boentsch; D Samson; P Coutinho; M Hutchinson; P McMonagle; J M Burgunder; A Tartaglione; O Heinzlef; I Feki; T Deufel; N Parfrey; A Brice; B Fontaine; J F Prud'homme; J Weissenbach; A Dürr; J Hazan
Journal:  Hum Mol Genet       Date:  2000-03-01       Impact factor: 6.150

10.  Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

Authors:  J Bürger; N Fonknechten; M Hoeltzenbein; L Neumann; E Bratanoff; J Hazan; A Reis
Journal:  Eur J Hum Genet       Date:  2000-10       Impact factor: 4.246
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