Literature DB >> 20157007

Defining neurogenetic phenotypes (or how to compare needles in haystacks).

Patrick F Chinnery1.   

Abstract

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Year:  2010        PMID： 20157007     DOI： 10.1093/brain/awq027

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


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  2 in total

Review 1.  Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.

Authors:  Jaina Patel; Saadet Mercimek-Mahmutoglu
Journal:  Indian J Pediatr       Date:  2016-01-29       Impact factor: 1.967

2.  Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

Authors:  Martina Huemer; Daniela Karall; Anna Schossig; Jose E Abdenur; Fatma Al Jasmi; Caroline Biagosch; Felix Distelmaier; Peter Freisinger; Brett H Graham; Tobias B Haack; Natalie Hauser; Jozef Hertecant; Darius Ebrahimi-Fakhari; Vassiliki Konstantopoulou; Karen Leydiker; Charles M Lourenco; Sabine Scholl-Bürgi; Ekkehard Wilichowski; Nicole I Wolf; Saskia B Wortmann; Robert W Taylor; Johannes A Mayr; Penelope E Bonnen; Wolfgang Sperl; Holger Prokisch; Robert McFarland
Journal:  J Inherit Metab Dis       Date:  2015-04-14       Impact factor: 4.982
  2 in total

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