Literature DB >> 19694023

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

Antonella Fogli1, Roberta Battini, Fulvia Baldinotti, Michelucci Angela, Conidi Maria Elena, Simi Paolo.   

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Year:  2009        PMID： 19694023

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  1 in total

1.  The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Authors:  Lorena Travaglini; Chiara Aiello; Fabrizia Stregapede; Adele D'Amico; Viola Alesi; Andrea Ciolfi; Alessandro Bruselles; Michela Catteruccia; Simone Pizzi; Ginevra Zanni; Sara Loddo; Sabina Barresi; Gessica Vasco; Marco Tartaglia; Enrico Bertini; Francesco Nicita
Journal:  Neurogenetics       Date:  2018-04-24       Impact factor: 2.660
  1 in total

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