Literature DB >> 28017251

A SLC20A2 mutation identified in an asymptomatic patient with brain calcification.

Monica Gagliardi1, Maurizio Morelli2, Grazia Iannello3, Carmela Colica4, Grazia Annesi4, Aldo Quattrone3.   

Abstract

Entities:  

Keywords:  Brain calcification; Fahr's disease; SLC20A2

Mesh：

Substances：

Year:  2016        PMID： 28017251     DOI： 10.1016/j.jns.2016.11.038

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  3 in total

Review 1.  PDGF receptor mutations in human diseases.

Authors:  Emilie Guérit; Florence Arts; Guillaume Dachy; Boutaina Boulouadnine; Jean-Baptiste Demoulin
Journal:  Cell Mol Life Sci       Date:  2021-01-15       Impact factor: 9.261

2.  A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.

Authors:  Simon Lamquet; Eliana M Ramos; Andrea Legati; Giovanni Coppola; Dimitri Hemelsoet; Olivier M Vanakker
Journal:  Ann Clin Transl Neurol       Date:  2019-02-01       Impact factor: 4.511

Review 3.  Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.

Authors:  Giulia Donzuso; Giovanni Mostile; Alessandra Nicoletti; Mario Zappia
Journal:  Neurol Sci       Date:  2019-07-02       Impact factor: 3.307
  3 in total

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