Literature DB >> 31758406

Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.

Faruk Incecık1, Serdar Ceylaner2.   

Abstract

Entities:  

Year:  2019        PMID： 31758406     DOI： 10.1007/s13760-019-01242-z

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  4 in total

1.  Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.

Authors:  Marwa Maalej; Lamia Sfaihi; Marwa Ammar; Fakher Frikha; Marwa Kharrat; Olfa Alila-Fersi; Emna Mkaouar-Rebai; Abdelaziz Tlili; Thouraya Kammoun; Faiza Fakhfakh
Journal:  Neurogenetics       Date:  2022-07-11       Impact factor: 3.017

2.  A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder.

Authors:  Gökçen Oz Tuncer; Nadide Cemre Randa; Seren Aydin; Ayşe Aksoy
Journal:  Mol Syndromol       Date:  2022-02-08

3.  NAXE gene mutation-related progressive encephalopathy: A case report and literature review.

Authors:  Li-Wei Chiu; Sheng-Shing Lin; Chieh-Ho Chen; Chien-Heng Lin; Ni-Chung Lee; Syuan-Yu Hong; I-Ching Chou; Chien-Lin Lin; Pei-Yu Yang
Journal:  Medicine (Baltimore)       Date:  2021-10-22       Impact factor: 1.817

4.  Systemic metabolite profiling reveals sexual dimorphism of AIBP control of metabolism in mice.

Authors:  Jun-Dae Kim; Lingping Zhu; Quan Sun; Longhou Fang
Journal:  PLoS One       Date:  2021-04-01       Impact factor: 3.240
  4 in total

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