Literature DB >> 28371352

NDUFS4-related Leigh syndrome in Hutterites.

Josef Finsterer1, Sinda Zarrouk-Mahjoub2.   

Abstract

Entities:  

Keywords:  Leigh syndrome; MELAS; epilepsy; gene; mitochondrial disorder; mtDNA; seizures; stroke; stroke-like episode; stroke-like lesion

Mesh：

Substances：

Year:  2017        PMID： 28371352     DOI： 10.1002/ajmg.a.38225

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Myopathy reversion in mice after restauration of mitochondrial complex I.

Authors:  Claudia V Pereira; Susana Peralta; Tania Arguello; Sandra R Bacman; Francisca Diaz; Carlos T Moraes
Journal:  EMBO Mol Med       Date:  2020-01-09       Impact factor: 12.137

2.  Loss of Mitochondrial Ndufs4 in Striatal Medium Spiny Neurons Mediates Progressive Motor Impairment in a Mouse Model of Leigh Syndrome.

Authors:  Byron Chen; Jessica Hui; Kelsey S Montgomery; Alejandro Gella; Irene Bolea; Elisenda Sanz; Richard D Palmiter; Albert Quintana
Journal:  Front Mol Neurosci       Date:  2017-08-24       Impact factor: 5.639

Review 3.  Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly.

Authors:  Flora Kahlhöfer; Max Gansen; Volker Zickermann
Journal:  Life (Basel)       Date:  2021-05-19
  3 in total

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