Literature DB >> 27331010

Response to: Letter to the Editor regarding: The expanding phenotype of MELAS caused by the m.3291T > C tRNA mutation E. Kelland, C.A. Rupar, Asuri N. Prasad, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2].

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Abstract

Entities:  

Keywords:  MELAS; MELAS 3291T > C; Mitochondrial; Phenotypic features; tRNAleu (UUR) mutation

Year:  2016        PMID： 27331010      PMCID： PMC4901176          DOI： 10.1016/j.ymgmr.2016.05.001

Source DB:  PubMed          Journal:  Mol Genet Metab Rep        ISSN： 2214-4269


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  6 in total

Review 1.  Molecular pathology of MELAS and L-arginine effects.

Authors:  Yasutoshi Koga; Nataliya Povalko; Junko Nishioka; Koujyu Katayama; Shuichi Yatsuga; Toyojiro Matsuishi
Journal:  Biochim Biophys Acta       Date:  2011-09-14

Review 2.  Cardiac manifestations of primary mitochondrial disorders.

Authors:  Josef Finsterer; Sonam Kothari
Journal:  Int J Cardiol       Date:  2014-11-05       Impact factor: 4.164

3.  MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

Authors:  Valentina Emmanuele; David S Silvers; Evangelia Sotiriou; Kurenai Tanji; Salvatore DiMauro; Michio Hirano
Journal:  Muscle Nerve       Date:  2011-09       Impact factor: 3.217

4.  Topiramate and visual loss in a patient carrying a Leber hereditary optic neuropathy mutation.

Authors:  Steno Rinalduzzi; Anna Maria Cipriani; Neri Accornero
Journal:  Neurol Sci       Date:  2011-09-07       Impact factor: 3.307

5.  Stroke and Stroke-like Episodes in Muscle Disease.

Authors:  Josef Finsterer
Journal:  Open Neurol J       Date:  2012-05-18

6.  The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.

Authors:  E Keilland; C A Rupar; Asuri N Prasad; K Y Tay; A Downie; C Prasad
Journal:  Mol Genet Metab Rep       Date:  2016-02-22
  6 in total

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