Literature DB >> 4364695

Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia.

J M Rawles, R O Weller.   

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Year:  1974        PMID： 4364695     DOI： 10.1016/0002-9343(74)90820-1

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


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  8 in total

1.  Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

Authors:  M A McShane; S R Hammans; M Sweeney; I J Holt; T J Beattie; E M Brett; A E Harding
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

Review 2.  Mitochondrial myopathy: a genetic study of 71 cases.

Authors:  A E Harding; R K Petty; J A Morgan-Hughes
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

3.  Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.

Authors:  J Egger; B D Lake; J Wilson
Journal:  Arch Dis Child       Date:  1981-10       Impact factor: 3.791

4.  Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Authors:  Ewen W Sommerville; Yi Shiau Ng; Charlotte L Alston; Cristina Dallabona; Micol Gilberti; Langping He; Charlotte Knowles; Sophie L Chin; Andrew M Schaefer; Gavin Falkous; David Murdoch; Cheryl Longman; Marianne de Visser; Laurence A Bindoff; John M Rawles; John C S Dean; Richard K Petty; Maria E Farrugia; Tobias B Haack; Holger Prokisch; Robert McFarland; Douglass M Turnbull; Claudia Donnini; Robert W Taylor; Gráinne S Gorman
Journal:  JAMA Neurol       Date:  2017-06-01       Impact factor: 18.302

5.  Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

Authors:  Lindsay C Burrage; Sha Tang; Jing Wang; Taraka R Donti; Magdalena Walkiewicz; J Michael Luchak; Li-Chieh Chen; Eric S Schmitt; Zhiyv Niu; Rodrigo Erana; Jill V Hunter; Brett H Graham; Lee-Jun Wong; Fernando Scaglia
Journal:  Mol Genet Metab       Date:  2014-06-30       Impact factor: 4.797

6.  Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Authors:  Michelangelo Cao; Marta Donà; M Lucia Valentino; Lucia Valentino; Claudio Semplicini; Alessandra Maresca; Matteo Cassina; Alessandra Torraco; Eva Galletta; Valeria Manfioli; Gianni Sorarù; Valerio Carelli; Roberto Stramare; Enrico Bertini; Rosalba Carrozzo; Leonardo Salviati; Elena Pegoraro
Journal:  Neurogenetics       Date:  2015-11-10       Impact factor: 2.660

7.  The potential role of cell penetrating peptides in the intracellular delivery of proteins for therapy of erythroid related disorders.

Authors:  Lefkothea C Papadopoulou; Asterios S Tsiftsoglou
Journal:  Pharmaceuticals (Basel)       Date:  2013-01-07

8.  Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.

Authors:  Joshua E Mangum; Justin P Hardee; Dennis K Fix; Melissa J Puppa; Johnathon Elkes; Diego Altomare; Yelena Bykhovskaya; Dean R Campagna; Paul J Schmidt; Anoop K Sendamarai; Hart G W Lidov; Shayne C Barlow; Nathan Fischel-Ghodsian; Mark D Fleming; James A Carson; Jeffrey R Patton
Journal:  Sci Rep       Date:  2016-05-20       Impact factor: 4.379
  8 in total

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