Literature DB >> 18973250

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.

Wim Vandenberghe, Koen Van Laere, Frederik Debruyne, Christine Van Broeckhoven, Gert Van Goethem.   

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Year:  2009        PMID： 18973250     DOI： 10.1002/mds.22198

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  11 in total

1.  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

2.  POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study.

Authors:  Matthis Synofzik; Julia Schicks; Karin Srulijes; Claudia Schulte; Franziska Schiele; Daniela Berg; Ludger Schöls
Journal:  J Neurol       Date:  2012-05-12       Impact factor: 4.849

3.  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

Review 4.  Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.

Authors:  Linsheng Zhang; Sherine S L Chan; Daynna J Wolff
Journal:  Arch Pathol Lab Med       Date:  2011-07       Impact factor: 5.534

Review 5.  Targeting Mitochondria as a Therapeutic Approach for Parkinson's Disease.

Authors:  Maryam Abrishamdar; Maryam Sadat Jalali; Yaghoob Farbood
Journal:  Cell Mol Neurobiol       Date:  2022-08-11       Impact factor: 4.231

6.  Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Authors:  Paola Da Pozzo; Anna Rubegni; Alessandra Rufa; Elena Cardaioli; Ilaria Taglia; Gian Nicola Gallus; Alessandro Malandrini; Antonio Federico
Journal:  Neurol Sci       Date:  2015-06-07       Impact factor: 3.307

7.  The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Authors:  C Fratter; G S Gorman; J D Stewart; M Buddles; C Smith; J Evans; A Seller; J Poulton; M Roberts; M G Hanna; S Rahman; S E Omer; T Klopstock; B Schoser; C Kornblum; B Czermin; B Lecky; E L Blakely; K Craig; P F Chinnery; D M Turnbull; R Horvath; R W Taylor
Journal:  Neurology       Date:  2010-05-18       Impact factor: 9.910

Review 8.  The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer's Disease and Parkinson's Disease.

Authors:  Giacomo Monzio Compagnoni; Alessio Di Fonzo; Stefania Corti; Giacomo P Comi; Nereo Bresolin; Eliezer Masliah
Journal:  Mol Neurobiol       Date:  2020-05-22       Impact factor: 5.682

9.  Homologous DNA strand exchange activity of the human mitochondrial DNA helicase TWINKLE.

Authors:  Doyel Sen; Gayatri Patel; Smita S Patel
Journal:  Nucleic Acids Res       Date:  2016-02-16       Impact factor: 16.971

10.  Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?

Authors:  David P Breen; David G Munoz; Anthony E Lang
Journal:  Neurology       Date:  2020-08-26       Impact factor: 9.910
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