Literature DB >> 29228108

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Leonardo Caporali1, Luca Bello2, Francesca Tagliavini1, Chiara La Morgia1,3, Alessandra Maresca1, Lidia Di Vito1, Rocco Liguori1,3, Maria Lucia Valentino1,3, Diego Cecchin4,5, Elena Pegoraro2, Valerio Carelli1,3.   

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Year:  2018        PMID： 29228108     DOI： 10.1093/brain/awx301

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  4 in total

1.  Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish.

Authors:  Benjamin Munro; Rita Horvath; Juliane S Müller
Journal:  Hum Mol Genet       Date:  2019-03-01       Impact factor: 6.150

2.  CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.

Authors:  V Montano; C Simoncini; Cassi L Calì; A Legati; G Siciliano; M Mancuso
Journal:  Case Rep Neurol Med       Date:  2019-03-06

3.  Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.

Authors:  Elisa Boschetti; Leonardo Caporali; Roberto D'Angelo; Carolina Malagelada; Anna Accarino; Maria Teresa Dotti; Roberta Costa; Giovanna Cenacchi; Loris Pironi; Rita Rinaldi; Vincenzo Stanghellini; Stefano Ratti; Lucia Manzoli; Valerio Carelli; Roberto De Giorgio
Journal:  Int J Mol Sci       Date:  2022-08-08       Impact factor: 6.208

4.  TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.

Authors:  Marco Percetti; Giulia Franco; Edoardo Monfrini; Leonardo Caporali; Raffaella Minardi; Chiara La Morgia; Maria Lucia Valentino; Rocco Liguori; Ilaria Palmieri; Donatella Ottaviani; Maria Vizziello; Dario Ronchi; Federica Di Berardino; Antoniangela Cocco; Bertil Macao; Maria Falkenberg; Giacomo Pietro Comi; Alberto Albanese; Bruno Giometto; Enza Maria Valente; Valerio Carelli; Alessio Di Fonzo
Journal:  Mov Disord       Date:  2022-07-06       Impact factor: 9.698
  4 in total

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