Literature DB >> 28716252

LMNB1 mutation causes cerebellar involvement and a genome instability defect.

José Luiz Pedroso1, Veridiana Munford2, André Uchimura Bastos2, Ligia Pereira de Castro2, Victor Hugo Rocha Marussi3, Gisele Sampaio Silva4, Juliana Harumi Arita5, Carlos F M Menck2, Orlando G Barsottini6.   

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Year:  2017        PMID： 28716252     DOI： 10.1016/j.jns.2017.06.027

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


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  1 in total

1.  De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

Authors:  Francesca Cristofoli; Tonya Moss; Hannah W Moore; Koen Devriendt; Heather Flanagan-Steet; Melanie May; Julie Jones; Filip Roelens; Carmen Fons; Anna Fernandez; Loreto Martorell; Angelo Selicorni; Silvia Maitz; Giuseppina Vitiello; Gerd Van der Hoeven; Steven A Skinner; Mathieu Bollen; Joris R Vermeesch; Richard Steet; Hilde Van Esch
Journal:  Am J Hum Genet       Date:  2020-09-09       Impact factor: 11.025
  1 in total

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