Literature DB >> 6294949

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

S DiMauro, J F Nicholson, A P Hays, A B Eastwood, R Koenigsberger, D C DeVivo.   

Abstract

Entities:  

Mesh：

Year:  1981        PMID： 6294949

Source DB:  PubMed          Journal:  Trans Am Neurol Assoc        ISSN： 0065-9479


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  9 in total

Review 1.  Mitochondrial disease in childhood: mtDNA encoded.

Authors:  Russell P Saneto; Margret M Sedensky
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

Review 2.  Reversible infantile mitochondrial diseases.

Authors:  Veronika Boczonadi; Boglarka Bansagi; Rita Horvath
Journal:  J Inherit Metab Dis       Date:  2014-11-19       Impact factor: 4.982

3.  Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study.

Authors:  J Müller-Höcker; D Pongratz; G Hübner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

Review 4.  Mitochondrial diseases: the contribution of organelle stress responses to pathology.

Authors:  Anu Suomalainen; Brendan J Battersby
Journal:  Nat Rev Mol Cell Biol       Date:  2017-08-09       Impact factor: 94.444

Review 5.  Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Authors:  Valentina Emmanuele; Jaya Ganesh; Georgirene Vladutiu; Richard Haas; Douglas Kerr; Russell P Saneto; Bruce H Cohen; Johan L K Van Hove; Fernando Scaglia; Charles Hoppel; Xiomara Q Rosales; Emanuele Barca; Richard Buchsbaum; John L Thompson; Salvatore DiMauro; Michio Hirano
Journal:  Mol Genet Metab       Date:  2022-05-13       Impact factor: 4.204

6.  Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency.

Authors:  R C Sengers; J M Trijbels; J A Bakkeren; W Ruitenbeek; J C Fischer; A J Janssen; A M Stadhouders; H J ter Laak
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

7.  Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

Authors:  J Uusimaa; H Jungbluth; C Fratter; G Crisponi; L Feng; M Zeviani; I Hughes; E P Treacy; J Birks; G K Brown; C A Sewry; M McDermott; F Muntoni; J Poulton
Journal:  J Med Genet       Date:  2011-10       Impact factor: 6.318

8.  Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.

Authors:  Sara Roos; Carola Hedberg-Oldfors; Kittichate Visuttijai; My Stein; Gittan Kollberg; Ólöf Elíasdóttir; Christopher Lindberg; Niklas Darin; Anders Oldfors
Journal:  Brain Pathol       Date:  2021-11-21       Impact factor: 7.611

9.  Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Authors:  Rita Horvath; John P Kemp; Helen A L Tuppen; Gavin Hudson; Anders Oldfors; Suely K N Marie; Ali-Reza Moslemi; Serenella Servidei; Elisabeth Holme; Sara Shanske; Gittan Kollberg; Parul Jayakar; Angela Pyle; Harold M Marks; Elke Holinski-Feder; Mena Scavina; Maggie C Walter; Jorida Coku; Andrea Günther-Scholz; Paul M Smith; Robert McFarland; Zofia M A Chrzanowska-Lightowlers; Robert N Lightowlers; Michio Hirano; Hanns Lochmüller; Robert W Taylor; Patrick F Chinnery; Mar Tulinius; Salvatore DiMauro
Journal:  Brain       Date:  2009-08-31       Impact factor: 13.501
  9 in total

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