Literature DB >> 12939451

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

F Dalpozzo1, M G Rossetto, F Boaretto, E Sartori, M L Mostacciuolo, A Daga, M T Bassi, A Martinuzzi.   

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Year:  2003        PMID： 12939451     DOI： 10.1212/01.wnl.0000078189.73611.df

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

1.  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

2.  Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.

Authors:  J Haberlová; K G Claeys; J Zámecník; P De Jonghe; P Seeman
Journal:  J Neurol       Date:  2008-04-30       Impact factor: 4.849

3.  A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

Authors:  Olimpia Musumeci; Maria Teresa Bassi; Anna Mazzeo; Marina Grandis; Claudia Crimella; Andrea Martinuzzi; Antonio Toscano
Journal:  Neurol Sci       Date:  2010-11-24       Impact factor: 3.307

4.  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

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

Review 6.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

Review 7.  Hereditary spastic paraplegia.

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

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
  9 in total

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