Literature DB >> 27460527

Mitochondrial Diseases: A Clinical and Molecular History.

Steven G Pavlakis1, Michio Hirano2.   

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Year:  2016        PMID： 27460527      PMCID： PMC8285080          DOI： 10.1016/j.pediatrneurol.2016.05.014

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  28 in total

1.  Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.

Authors:  T P KEARNS; G P SAYRE
Journal:  AMA Arch Ophthalmol       Date:  1958-08

2.  A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Nature       Date:  1990-12-13       Impact factor: 49.962

3.  Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism.

Authors:  Y Shapira; S Harel; A Russell
Journal:  Isr J Med Sci       Date:  1977-02

4.  Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

Authors:  J M Shoffner; M T Lott; A M Lezza; P Seibel; S W Ballinger; D C Wallace
Journal:  Cell       Date:  1990-06-15       Impact factor: 41.582

5.  Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria.

Authors:  S DiMauro; D L Schotland; E Bonilla; C P Lee; P Gambetti; L P Rowland
Journal:  Arch Neurol       Date:  1973-09

6.  Historical perspective on mitochondrial medicine.

Authors:  Salvatore DiMauro; Caterina Garone
Journal:  Dev Disabil Res Rev       Date:  2010

7.  Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.

Authors:  S G Pavlakis; P C Phillips; S DiMauro; D C De Vivo; L P Rowland
Journal:  Ann Neurol       Date:  1984-10       Impact factor: 10.422

8.  Muscle carnitine palmityltransferase deficiency and myoglobinuria.

Authors:  S DiMauro; P M DiMauro
Journal:  Science       Date:  1973-11-20       Impact factor: 47.728

Review 9.  Mitochondrial myopathies.

Authors:  S DiMauro; E Bonilla; M Zeviani; M Nakagawa; D C DeVivo
Journal:  Ann Neurol       Date:  1985-06       Impact factor: 10.422

10.  Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

Authors:  I Nishino; A Spinazzola; M Hirano
Journal:  Science       Date:  1999-01-29       Impact factor: 47.728
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  1 in total

Review 1.  Epigenetic Treatment of Neurodegenerative Ophthalmic Disorders: An Eye Toward the Future.

Authors:  Walter H Moos; Douglas V Faller; Ioannis P Glavas; David N Harpp; Michael H Irwin; Iphigenia Kanara; Carl A Pinkert; Whitney R Powers; Kosta Steliou; Demetrios G Vavvas; Krishna Kodukula
Journal:  Biores Open Access       Date:  2017-12-01
  1 in total

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