Literature DB >> 32909139

Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.

Ahmed N Sahly1,2, Eric Krochmalnek3, Judith St-Onge3, Myriam Srour1,3,4, Kenneth A Myers5,6,7.   

Abstract

Entities:  

Year:  2020        PMID： 32909139     DOI： 10.1007/s00439-020-02224-5

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


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  2 in total

1.  DNM1: A Prognostic Biomarker Associated with Immune Infiltration in Colon Cancer-A Study Based on TCGA Database.

Authors:  Mingchao Hu; Jianchun Gu; Wenzhao Su; Zhenjie Zhang; Baosong Zhu; Qiang Wang; Chungen Xing
Journal:  Biomed Res Int       Date:  2021-11-30       Impact factor: 3.411

2.  Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

Authors:  Gökhan Yigit; Ruth Sheffer; Muhannad Daana; Bernd Wollnik; Knut Brockmann; Yun Li; Emrah Kaygusuz; Hagar Mor-Shakad; Janine Altmüller; Peter Nürnberg; Liza Douiev; Silke Kaulfuss; Peter Burfeind
Journal:  J Med Genet       Date:  2021-06-25       Impact factor: 5.941
  2 in total

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