Literature DB >> 14557590

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

V Petruzzella1, G Di Giacinto, S Scacco, F Piemonte, A Torraco, R Carrozzo, R Vergari, C Dionisi-Vici, D Longo, A Tessa, S Papa, E Bertini.   

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Year:  2003        PMID： 14557590     DOI： 10.1212/01.wnl.0000080363.10902.e9

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  4 in total

1.  Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report.

Authors:  Qingdan Xu; Ping Sun; Chaoyi Feng; Qian Chen; Xinghuai Sun; Yuhong Chen; Guohong Tian
Journal:  Front Med (Lausanne)       Date:  2022-07-04

2.  Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes/Leigh Overlap Syndrome Due to Variant m.13513G>A in MT-ND5.

Authors:  Josef Finsterer; John Hayman
Journal:  Cureus       Date:  2022-05-05

3.  Respiratory complex I in brain development and genetic disease.

Authors:  Sergio Papa; Vittoria Petruzzella; Salvatore Scacco; Rosaria Vergari; Damiano Panelli; Rosanna Tamborra; Patrizia Corsi; Margherita Picciariello; Rossana Lambo; Enrico Bertini; Filippo Maria Santorelli
Journal:  Neurochem Res       Date:  2004-03       Impact factor: 3.996

4.  The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.

Authors:  M L Valentino; P Barboni; C Rengo; A Achilli; A Torroni; R Lodi; C Tonon; B Barbiroli; F Fortuna; P Montagna; A Baruzzi; V Carelli
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318
  4 in total

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