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22 in total

Review 1. The genetics of strabismus.

Authors: M Michaelides; A T Moore
Journal: J Med Genet Date: 2004-09 Impact factor: 6.318

2. Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

Authors: Matthew J Longley; Margaret M Humble; Farida S Sharief; William C Copeland
Journal: J Biol Chem Date: 2010-07-20 Impact factor: 5.157

3. Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes.

Authors: Timothy E Shutt; Michael W Gray
Journal: J Mol Evol Date: 2006-04-11 Impact factor: 2.395

4. 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

5. Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells.

Authors: Yuichi Matsushima; Laurie S Kaguni
Journal: J Biol Chem Date: 2007-01-31 Impact factor: 5.157

6. Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Authors: Paola Da Pozzo; Elena Cardaioli; Anna Rubegni; Gian Nicola Gallus; Alessandro Malandrini; Alessandra Rufa; Carla Battisti; Maria Alessandra Carluccio; Raffaele Rocchi; Fabio Giannini; Amedeo Bianchi; Michelangelo Mancuso; Gabriele Siciliano; Maria Teresa Dotti; Antonio Federico
Journal: Neurol Sci Date: 2017-01-27 Impact factor: 3.307

Review 7. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors: David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal: Hum Genet Date: 2013-07-03 Impact factor: 4.132

8. Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.

Authors: Kunqian Ji; Kaiming Liu; Pengfei Lin; Bing Wen; Yue-Bei Luo; Yuying Zhao; Chuanzhu Yan
Journal: Neurol Sci Date: 2013-10-04 Impact factor: 3.307

Review 9. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.

Authors: Gert Van Goethem; Jean-Jacques Martin; Christine Van Broeckhoven
Journal: Neuromolecular Med Date: 2003 Impact factor: 3.843

10. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Authors: Lee-Jun C Wong; Robert K Naviaux; Nicola Brunetti-Pierri; Qing Zhang; Eric S Schmitt; Cavatina Truong; Margherita Milone; Bruce H Cohen; Beverly Wical; Jaya Ganesh; Alice A Basinger; Barbara K Burton; Kathryn Swoboda; Donald L Gilbert; Adeline Vanderver; Russell P Saneto; Bruno Maranda; Georgianne Arnold; Jose E Abdenur; Paula J Waters; William C Copeland
Journal: Hum Mutat Date: 2008-09 Impact factor: 4.878