Literature DB >> 30713856

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Tuhin Virmani1,2, Michael Rotstein3, Ronen Spiegel4, Hasan O Akman1, Salvatore DiMauro1, Paul E Greene1,5.   

Abstract

Entities:  

Year:  2014        PMID： 30713856      PMCID： PMC6353531          DOI： 10.1002/mdc3.12055

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  7 in total

1.  A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency.

Authors:  H Sugie; Y Sugie; M Ito; T Fukuda
Journal:  J Child Neurol       Date:  1998-02       Impact factor: 1.987

2.  Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease.

Authors:  P N Konrad; D J McCarthy; A M Mauer; W N Valentine; D E Paglia
Journal:  J Pediatr       Date:  1973-03       Impact factor: 4.406

3.  Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.

Authors:  Kentaro Shirakawa; Yoshitomo Takahashi; Hiroaki Miyajima
Journal:  Neurology       Date:  2006-03-28       Impact factor: 9.910

4.  Phosphoglycerate kinase deficiency.

Authors:  H Sugie; Y Sugie; S Tsurui; M Ito
Journal:  Neurology       Date:  1994-07       Impact factor: 9.910

5.  Myopathy and parkinsonism in phosphoglycerate kinase deficiency.

Authors:  Evangelia Sotiriou; Paul Greene; Sindu Krishna; Michio Hirano; Salvatore DiMauro
Journal:  Muscle Nerve       Date:  2010-05       Impact factor: 3.217

6.  A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).

Authors:  S Tsujino; P Tonin; S Shanske; V Nohria; R M Boustany; D Lewis; Y T Chen; S DiMauro
Journal:  Ann Neurol       Date:  1994-03       Impact factor: 10.422

7.  Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

Authors:  Ronen Spiegel; Estela Area Gomez; Hasan O Akman; Sindu Krishna; Yoseph Horovitz; Salvatore DiMauro
Journal:  Neuromuscul Disord       Date:  2009-01-20       Impact factor: 4.296
  7 in total

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