Literature DB >> 25344079

Leigh syndrome: the genetic heterogeneity story continues.

Mike Gerards1.   

Abstract

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Year:  2014        PMID: 25344079     DOI: 10.1093/brain/awu264

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  3 in total

1.  Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.

Authors:  Salvatore Savasta; Francesco Bassanese; Chiara Buschini; Thomas Foiadelli; Chiara Trabatti; Stephanie Efthymiou; Vincenzo Salpietro; Henry Houlden; Annamaria Simoncelli; Gian Luigi Marseglia
Journal:  J Pediatr Genet       Date:  2018-12-18

2.  Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network.

Authors:  Benjamin P Keith; David L Robertson; Kathryn E Hentges
Journal:  Front Genet       Date:  2014-12-09       Impact factor: 4.599

3.  Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice.

Authors:  Mei Wang; Ya-Ping Huang; Han Wu; Ke Song; Cong Wan; A-Ni Chi; Ya-Mei Xiao; Xiao-Yang Zhao
Journal:  PeerJ       Date:  2017-05-18       Impact factor: 2.984

  3 in total

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