Literature DB >> 22334187

POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.

Juliana Gurgel-Giannetti, Sarah Teixeira Camargos, Francisco Cardoso, Michio Hirano, Salvatore DiMauro.   

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Year:  2012        PMID： 22334187      PMCID： PMC6082632          DOI： 10.1002/mus.22330

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  8 in total

1.  Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.

Authors:  A T Rovio; D R Marchington; S Donat; H C Schuppe; J Abel; E Fritsche; D J Elliott; P Laippala; A L Ahola; D McNay; R F Harrison; B Hughes; T Barrett; D M Bailey; D Mehmet; A M Jequier; T B Hargreave; S H Kao; J M Cummins; D E Barton; H J Cooke; Y H Wei; L Wichmann; J Poulton; H T Jacobs
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

2.  POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

Authors:  Robert K Naviaux; Khue V Nguyen
Journal:  Ann Neurol       Date:  2004-05       Impact factor: 10.422

3.  Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Authors:  Petri Luoma; Atle Melberg; Juha O Rinne; Jyrki A Kaukonen; Nina N Nupponen; Richard M Chalmers; Anders Oldfors; Ilkka Rautakorpi; Leena Peltonen; Kari Majamaa; Hannu Somer; Anu Suomalainen
Journal:  Lancet       Date:  2004 Sep 4-10       Impact factor: 79.321

4.  Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Authors:  G Van Goethem; B Dermaut; A Löfgren; J J Martin; C Van Broeckhoven
Journal:  Nat Genet       Date:  2001-07       Impact factor: 38.330

5.  Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma.

Authors:  P A Ropp; W C Copeland
Journal:  Genomics       Date:  1996-09-15       Impact factor: 5.736

6.  Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Authors:  Massimiliano Filosto; Michelangelo Mancuso; Yutaka Nishigaki; Jacklyn Pancrudo; Yadollah Harati; Clifton Gooch; Ami Mankodi; Lydia Bayne; Eduardo Bonilla; Sara Shanske; Michio Hirano; Salvatore DiMauro
Journal:  Arch Neurol       Date:  2003-09

7.  POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

Authors:  M Mancuso; M Filosto; M Bellan; R Liguori; P Montagna; A Baruzzi; S DiMauro; V Carelli
Journal:  Neurology       Date:  2004-01-27       Impact factor: 9.910

8.  Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Authors:  G Van Goethem; J J Martin; B Dermaut; A Löfgren; A Wibail; D Ververken; P Tack; I Dehaene; M Van Zandijcke; M Moonen; C Ceuterick; P De Jonghe; C Van Broeckhoven
Journal:  Neuromuscul Disord       Date:  2003-02       Impact factor: 4.296
  8 in total
  2 in total

1.  Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.

Authors:  Barton R Brandon; Nico J Diederich; Madhu Soni; Katrin Witte; Manja Weinhold; Micaela Krause; Sandra Jackson
Journal:  J Neurol       Date:  2013-05-30       Impact factor: 4.849

2.  The DNA Polymerase Gamma R953C Mutant Is Associated with Antiretroviral Therapy-Induced Mitochondrial Toxicity.

Authors:  Min Li; Andrea C Mislak; Yram Foli; Esinam Agbosu; Vivek Bose; Shreya Bhandari; Michal R Szymanski; Christie K Shumate; Y Whitney Yin; Karen S Anderson; Elijah Paintsil
Journal:  Antimicrob Agents Chemother       Date:  2016-08-22       Impact factor: 5.191
  2 in total

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