Literature DB >> 28431594

Phenotypic spectrum of DARS2 mutations.

Josef Finsterer1, Sinda Zarrouk-Mahjoub2.   

Abstract

Entities:  

Keywords:  Ataxia; Compound heterozygote; DARS2; LBSL; Lactic acidosis; Leucoencephalopathy; Spasticity

Mesh：

Substances：

Year:  2017        PMID： 28431594     DOI： 10.1016/j.jns.2017.03.006

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


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  4 in total

1.  Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).

Authors:  Julie Ngo; Jeremy W Prokop; Jason Umfleet; Laurie H Seaver
Journal:  Child Neurol Open       Date:  2021-05-25

2.  Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.

Authors:  Ashraf Yahia; Liena Elsayed; Arwa Babai; Mustafa A Salih; Sarah Misbah El-Sadig; Mutaz Amin; Mahmoud Koko; Rayan Abubakr; Razaz Idris; Shaimaa Omer M A Taha; Salah A Elmalik; Alexis Brice; Ammar Eltahir Ahmed; Giovanni Stevanin
Journal:  BMC Neurol       Date:  2018-10-23       Impact factor: 2.474

Review 3.  Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.

Authors:  Amena Smith Fine; Christina L Nemeth; Miriam L Kaufman; Ali Fatemi
Journal:  J Neurodev Disord       Date:  2019-12-16       Impact factor: 4.025

4.  FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism.

Authors:  Wenlu Fan; Xiaoye Jin; Man Xu; Yongmei Xi; Weiguo Lu; Xiaohang Yang; Min-Xin Guan; Wanzhong Ge
Journal:  Nucleic Acids Res       Date:  2021-12-16       Impact factor: 16.971
  4 in total

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