Literature DB >> 23582335

189th ENMC international workshop complex I deficiency: diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands.

Shamima Rahman1, David R Thorburn.   

Abstract

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Year:  2013        PMID： 23582335     DOI： 10.1016/j.nmd.2013.03.004

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  4 in total

Review 1.  Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.

Authors:  Rebecca J Levy; Purificación Gutierrez Ríos; Hasan O Akman; Monica Sciacco; Darryl C De Vivo; Salvatore DiMauro
Journal:  J Child Neurol       Date:  2013-11-27       Impact factor: 1.987

2.  Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.

Authors:  David L Gasser; Cheryl A Winkler; Min Peng; Ping An; Louise M McKenzie; Gregory D Kirk; Yuchen Shi; Letian X Xie; Beth N Marbois; Catherine F Clarke; Jeffrey B Kopp
Journal:  Am J Physiol Renal Physiol       Date:  2013-08-07

Review 3.  Development of pharmacological strategies for mitochondrial disorders.

Authors:  M Kanabus; S J Heales; S Rahman
Journal:  Br J Pharmacol       Date:  2014-04       Impact factor: 8.739

4.  A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

Authors:  Rojeen Shahni; Yehani Wedatilake; Maureen A Cleary; Keith J Lindley; Keith R Sibson; Shamima Rahman
Journal:  Am J Med Genet A       Date:  2013-08-05       Impact factor: 2.802
  4 in total

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