Literature DB >> 18446310

Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.

Claudia Cagnoli, Alessandro Brussino, Eleonora Di Gregorio, Paola Caroppo, Silvia Stola, Elisa Dragone, Marina Ferrone, Sergio Padovan, Nicola Migone, Laura Orsi, Alfredo Brusco.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18446310     DOI： 10.1007/s00415-008-0772-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  9 in total

1.  The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.

Authors:  Kate Craig; Gianfrancesco Ferrari; Watcharee Tiangyou; Gavin Hudson; Cinzia Gellera; Massimo Zeviani; Patrick F Chinnery
Journal:  Brain       Date:  2007-04       Impact factor: 13.501

2.  Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan.

Authors:  Yi-Chung Lee; Yi-Chun Lu; Ming-Hon Chang; Bing-Wen Soong
Journal:  J Neurol Sci       Date:  2007-02-14       Impact factor: 3.181

3.  SANDO: two novel mutations in POLG1 gene.

Authors:  Miguel Fernandes Gago; M J Rosas; Joana Guimarães; Mariana Ferreira; Laura Vilarinho; Lígia Castro; Stirling Carpenter
Journal:  Neuromuscul Disord       Date:  2006-08-21       Impact factor: 4.296

4.  Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Authors:  Anna H Hakonen; Silja Heiskanen; Vesa Juvonen; Ilse Lappalainen; Petri T Luoma; Maria Rantamaki; Gert Van Goethem; Ann Lofgren; Peter Hackman; Anders Paetau; Seppo Kaakkola; Kari Majamaa; Teppo Varilo; Bjarne Udd; Helena Kaariainen; Laurence A Bindoff; Anu Suomalainen
Journal:  Am J Hum Genet       Date:  2005-07-27       Impact factor: 11.025

Review 5.  Consequences of mutations in human DNA polymerase gamma.

Authors:  Matthew J Longley; Maria A Graziewicz; Rachelle J Bienstock; William C Copeland
Journal:  Gene       Date:  2005-07-18       Impact factor: 3.688

6.  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

7.  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.  Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Authors:  Gianfrancesco Ferrari; Eleonora Lamantea; Alice Donati; Massimiliano Filosto; Egill Briem; Franco Carrara; Rossella Parini; Alessandro Simonati; René Santer; Massimo Zeviani
Journal:  Brain       Date:  2005-02-02       Impact factor: 13.501

9.  Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Authors:  S Winterthun; G Ferrari; L He; R W Taylor; M Zeviani; D M Turnbull; B A Engelsen; G Moen; L A Bindoff
Journal:  Neurology       Date:  2005-04-12       Impact factor: 9.910
  9 in total
  2 in total

1.  Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Authors:  Michal Inbar-Feigenberg; Susan Blaser; Cynthia Hawkins; Patrick Shannon; Stacy Hewson; David Chitayat
Journal:  Metab Brain Dis       Date:  2018-03-25       Impact factor: 3.584

2.  Characterizing POLG ataxia: clinics, electrophysiology and imaging.

Authors:  Matthis Synofzik; Karin Srulijes; Jana Godau; Daniela Berg; Ludger Schöls
Journal:  Cerebellum       Date:  2012-12       Impact factor: 3.847
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.