Literature DB >> 12960222

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

A G Yip1, A Dürr, D A Marchuk, A Ashley-Koch, A Hentati, D C Rubinsztein, E Reid.   

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Year:  2003        PMID： 12960222      PMCID： PMC1735583          DOI： 10.1136/jmg.40.9.e106

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.

Authors:  Joanna M Solowska; James Y Garbern; Peter W Baas
Journal:  Hum Mol Genet       Date:  2010-04-29       Impact factor: 6.150

Review 2.  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

3.  Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.

Authors:  Fang Du; Emily F Ozdowski; Ingrid K Kotowski; Douglas A Marchuk; Nina Tang Sherwood
Journal:  Hum Mol Genet       Date:  2010-02-13       Impact factor: 6.150

4.  Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

Authors:  Mark Braschinsky; Riin Tamm; Christian Beetz; Elena Sachez-Ferrero; Elve Raukas; Siiri-Merike Lüüs; Katrin Gross-Paju; Catherine Boillot; Federico Canzian; Andres Metspalu; Sulev Haldre
Journal:  BMC Neurol       Date:  2010-03-09       Impact factor: 2.474

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

6.  Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

Authors:  Marcia A Blair; Shaochun Ma; Peter Hedera
Journal:  Neurogenetics       Date:  2006-02-18       Impact factor: 2.660

7.  Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.

Authors:  Joanna M Solowska; Mitchell D'Rozario; Daphney C Jean; Michael W Davidson; Daniel R Marenda; Peter W Baas
Journal:  J Neurosci       Date:  2014-01-29       Impact factor: 6.167

Review 8.  Hereditary spastic paraplegia.

Authors:  John K Fink
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081

9.  Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.

Authors:  Joanna M Solowska; Anand N Rao; Peter W Baas
Journal:  Mol Biol Cell       Date:  2017-05-11       Impact factor: 4.138

10.  The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

Authors:  Amir Jahic; Mukhran Khundadze; Nadine Jaenisch; Rebecca Schüle; Sven Klimpe; Stephan Klebe; Christiane Frahm; Jan Kassubek; Giovanni Stevanin; Ludger Schöls; Alexis Brice; Christian A Hübner; Christian Beetz
Journal:  Orphanet J Rare Dis       Date:  2015-11-16       Impact factor: 4.123
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