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Literature DB >> 24988570

Mutant COQ2 in multiple-system atrophy.

Catarina M Quinzii, Michio Hirano, Salvatore DiMauro.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2014 PMID： 24988570 PMCID： PMC4961084 DOI： 10.1056/NEJMc1311763

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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3 in total

1. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Authors: Catarina Quinzii; Ali Naini; Leonardo Salviati; Eva Trevisson; Placido Navas; Salvatore Dimauro; Michio Hirano
Journal: Am J Hum Genet Date: 2005-12-22 Impact factor: 11.025

Review 2. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

Authors: Valentina Emmanuele; Luis C López; Luis López; Andres Berardo; Ali Naini; Saba Tadesse; Bing Wen; Erin D'Agostino; Martha Solomon; Salvatore DiMauro; Catarina Quinzii; Michio Hirano
Journal: Arch Neurol Date: 2012-08

3. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

Authors: L Salviati; S Sacconi; L Murer; G Zacchello; L Franceschini; A M Laverda; G Basso; C Quinzii; C Angelini; M Hirano; A B Naini; P Navas; S DiMauro; G Montini
Journal: Neurology Date: 2005-08-23 Impact factor: 9.910

3 in total

9 in total

1. Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum.

Authors: Emanuele Barca; Giulio Kleiner; Guomei Tang; Marcello Ziosi; Saba Tadesse; Eliezer Masliah; Elan D Louis; Phyllis Faust; Un J Kang; Jose Torres; Etty P Cortes; Jean-Paul G Vonsattel; Sheng-Han Kuo; Catarina M Quinzii
Journal: J Neuropathol Exp Neurol Date: 2016-05-27 Impact factor: 3.685

Review 2. Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.

Authors: Kurt A Jellinger
Journal: J Neural Transm (Vienna) Date: 2019-06-18 Impact factor: 3.575

Mutant COQ2 in multiple-system atrophy.

1. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Review 2. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

3. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

1. Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum.

Review 2. Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.

Review 3. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Review 4. Multiple system atrophy: genetic or epigenetic?

5. Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

Review 6. The role of de novo mutations in adult-onset neurodegenerative disorders.

Review 7. Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives.

Review 8. A historical review of multiple system atrophy with a critical appraisal of cellular and animal models.

Review 9. Heterogeneity of Multiple System Atrophy: An Update.