Literature DB >> 17438011

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

Kate Craig, Gianfrancesco Ferrari, Watcharee Tiangyou, Gavin Hudson, Cinzia Gellera, Massimo Zeviani, Patrick F Chinnery.   

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Year:  2007        PMID： 17438011     DOI： 10.1093/brain/awm009

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  6 in total

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

Authors:  Claudia Cagnoli; Alessandro Brussino; Eleonora Di Gregorio; Paola Caroppo; Silvia Stola; Elisa Dragone; Marina Ferrone; Sergio Padovan; Nicola Migone; Laura Orsi; Alfredo Brusco
Journal:  J Neurol       Date:  2008-05-05       Impact factor: 4.849

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

Review 3.  POLG1-related and other "mitochondrial Parkinsonisms": an overview.

Authors:  Daniele Orsucci; Elena Caldarazzo Ienco; Michelangelo Mancuso; Gabriele Siciliano
Journal:  J Mol Neurosci       Date:  2011-01-08       Impact factor: 3.444

4.  Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.

Authors:  Ewa Pronicka; Anna Weglewska-Jurkiewicz; Maciej Pronicki; Jolanta Sykut-Cegielska; Pawel Kowalski; Magdalena Pajdowska; Irena Jankowska; Katarzyna Kotulska; Piotr Kalicinski; Joanna Jakobkiewicz-Banecka; Grzegorz Wegrzyn
Journal:  Med Sci Monit       Date:  2011-04

Review 5.  POLG-related disorders and their neurological manifestations.

Authors:  Shamima Rahman; William C Copeland
Journal:  Nat Rev Neurol       Date:  2019-01       Impact factor: 42.937

6.  Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.

Authors:  Kunqian Ji; Chuanzhu Yan; Yan Lin; Jixiang Du; Wei Wang; Hong Ren; Dandan Zhao; Fuchen Liu; Pengfei Lin; Yuying Zhao
Journal:  Neurol Sci       Date:  2021-06-29       Impact factor: 3.307
  6 in total

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