Literature DB >> 22581552

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.

Angela Magariello, Carla Tortorella, Luigi Citrigno, Alessandra Patitucci, Rosanna Tortelli, Rosalucia Mazzei, Francesca Luisa Conforti, Carmine Ungaro, William Sproviero, Antonio Gambardella, Maria Muglia.   

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Year:  2012        PMID： 22581552     DOI： 10.1002/mus.23360

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  2 in total

1.  Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

Authors:  Lena Willkomm; Raul Heredia; Katrin Hoffmann; Haicui Wang; Thomas Voit; Eric P Hoffman; Sebahattin Cirak
Journal:  J Hum Genet       Date:  2016-02-18       Impact factor: 3.172

2.  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
  2 in total

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