Literature DB >> 12112092

Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.

Maria Muglia, Angela Magariello, Giuseppe Nicoletti, Alessandra Patitucci, Anna Lia Gabriele, Francesca Luisa Conforti, Rosalucia Mazzei, Manuela Caracciolo, Bonaventura Ardito, Marcello Lastilla, Gioacchino Tedeschi, Aldo Quattrone.   

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Year:  2002        PMID： 12112092     DOI： 10.1002/ana.10185

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  10 in total

Review 1.  Is the transportation highway the right road for hereditary spastic paraplegia?

Authors:  Andrew H Crosby; Christos Proukakis
Journal:  Am J Hum Genet       Date:  2002-09-24       Impact factor: 11.025

2.  The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Authors:  Valentina Scarano; Pietro Mancini; Chiara Criscuolo; Giuseppe De Michele; Carlo Rinaldi; Tecla Tucci; Alessandra Tessa; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Alessandro Filla
Journal:  J Neurol       Date:  2005-03-08       Impact factor: 4.849

3.  Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

Authors:  Annette Abel; Nuria Fonknechten; Anne Hofer; Alexandra Dürr; Corinne Cruaud; Thomas Voit; Jean Weissenbach; Alexis Brice; Sven Klimpe; Georg Auburger; Jamilé Hazan
Journal:  Neurogenetics       Date:  2004-10-28       Impact factor: 2.660

4.  Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

Authors:  D S McCorquodale; U Ozomaro; J Huang; G Montenegro; A Kushman; L Citrigno; J Price; F Speziani; M A Pericak-Vance; S Züchner
Journal:  Clin Genet       Date:  2011-06       Impact factor: 4.438

5.  Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.

Authors:  Neggy Rismanchi; Cynthia Soderblom; Julia Stadler; Peng-Peng Zhu; Craig Blackstone
Journal:  Hum Mol Genet       Date:  2008-02-12       Impact factor: 6.150

6.  Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

Authors:  Roger L Albin; Robert A Koeppe; Shirley Rainier; John K Fink
Journal:  J Neurogenet       Date:  2008       Impact factor: 1.250

Review 7.  Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.

Authors:  E Reid
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

8.  Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

Authors:  Christopher M Sanderson; James W Connell; Thomas L Edwards; Nicholas A Bright; Simon Duley; Amanda Thompson; J Paul Luzio; Evan Reid
Journal:  Hum Mol Genet       Date:  2005-12-08       Impact factor: 6.150

9.  Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Authors:  Guo-Hua Zhao; Xiao-Min Liu
Journal:  Transl Neurodegener       Date:  2017-04-04       Impact factor: 8.014

10.  Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A.

Authors:  Mujahed I Mustafa; Naseem S Murshed; Abdelrahman H Abdelmoneim; Miyssa I Abdelmageed; Nafisa M Elfadol; Abdelrafie M Makhawi
Journal:  Scientifica (Cairo)       Date:  2020-04-19
  10 in total

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