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Literature DB >> 18080848

Screening for POLG1 mutations in a Southern Italian ataxia population.

C Criscuolo, P Mancini, S Ammendola, D Cicala, S Banfi, G De Michele, A Filla.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2007 PMID： 18080848 DOI： 10.1007/s00415-007-0736-z

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

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8 in total

1. Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

Authors: Sherine S L Chan; Matthew J Longley; William C Copeland
Journal: Hum Mol Genet Date: 2006-11-06 Impact factor: 6.150

2. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Authors: Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; Rene Santer; Marketa Tesarova; Jiri Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Journal: Brain Date: 2006-04-18 Impact factor: 13.501

3. 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

4. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

Authors: Petri T Luoma; Ningguang Luo; Wolfgang N Löscher; Carol L Farr; Rita Horvath; Julia Wanschitz; Stefan Kiechl; Laurie S Kaguni; Anu Suomalainen
Journal: Hum Mol Genet Date: 2005-05-25 Impact factor: 6.150

5. 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

Screening for POLG1 mutations in a Southern Italian ataxia population.

1. Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

2. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

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

4. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

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

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

7. POLG1 in idiopathic Parkinson disease.

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