Literature DB >> 15210518

Hereditary spastic paraplegia: spastin phenotype and function.

John K Fink, Shirley Rainier.   

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Year:  2004        PMID： 15210518     DOI： 10.1001/archneur.61.6.830

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  7 in total

Review 1.  All neuropathies great and small.

Authors:  Ellen B Penny; Brian D McCabe
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

2.  A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Authors:  Johanna A Reed; Phillip A Wilkinson; Heema Patel; Michael A Simpson; Arnaud Chatonnet; Dimitri Robay; Michael A Patton; Andrew H Crosby; Thomas T Warner
Journal:  Neurogenetics       Date:  2005-02-12       Impact factor: 2.660

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.  Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.

Authors:  Lanfranco Leo; Carina Weissmann; Matthew Burns; Minsu Kang; Yuyu Song; Liang Qiang; Scott T Brady; Peter W Baas; Gerardo Morfini
Journal:  Hum Mol Genet       Date:  2017-06-15       Impact factor: 6.150

5.  A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.

Authors:  Christel Depienne; Estelle Fedirko; Jean-Marc Faucheux; Sylvie Forlani; Bernard Bricka; Cyril Goizet; Sylvie Lesourd; Giovanni Stevanin; Merle Ruberg; Alexandra Durr; Alexis Brice
Journal:  Neurogenetics       Date:  2007-06-28       Impact factor: 2.660

Review 6.  Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Authors:  Arthur H M Burghes; Christine E Beattie
Journal:  Nat Rev Neurosci       Date:  2009-07-08       Impact factor: 34.870

7.  Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia.

Authors:  Joanna M Solowska; Gerardo Morfini; Aditi Falnikar; B Timothy Himes; Scott T Brady; Dongyang Huang; Peter W Baas
Journal:  J Neurosci       Date:  2008-02-27       Impact factor: 6.167
  7 in total

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