Literature DB >> 30363534

Palatal Tremor in POLG-Associated Ataxia.

Madhu Nagappa1, Parayil Sankaran Bindu1, Arun B Taly1, Kothari Sonam2, Chiplunkar Shwetha2, Rakesh Kumar1, Narayanappa Gayathri3, M M Srinivas-Bharath4, Hanumanthapura R Arvinda5, Sanjib Sinha1, Arumugam Paramasivam6, Kumarasamy Thangaraj6.   

Abstract

Entities:  

Keywords:  POLG1 and POLG2; ataxia; palatal tremor

Year:  2015        PMID： 30363534      PMCID： PMC6178733          DOI： 10.1002/mdc3.12195

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  17 in total

Review 1.  Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease.

Authors:  P K Kulkarni; U B Muthane; A B Taly; P N Jayakumar; R Shetty; H S Swamy
Journal:  Mov Disord       Date:  1999-07       Impact factor: 10.338

Review 2.  Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors.

Authors:  Michael Samuel; Nurhan Torun; Paul J Tuite; James A Sharpe; Anthony E Lang
Journal:  Brain       Date:  2004-04-16       Impact factor: 13.501

3.  Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Authors:  Sha Tang; Jing Wang; Ni-Chung Lee; Margherita Milone; Michelle C Halberg; Eric S Schmitt; William J Craigen; Wei Zhang; Lee-Jun C Wong
Journal:  J Med Genet       Date:  2011-08-31       Impact factor: 6.318

4.  Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

Authors:  Matthew J Longley; Susanna Clark; Cynthia Yu Wai Man; Gavin Hudson; Steve E Durham; Robert W Taylor; Simon Nightingale; Douglass M Turnbull; William C Copeland; Patrick F Chinnery
Journal:  Am J Hum Genet       Date:  2006-05-04       Impact factor: 11.025

5.  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

6.  Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Authors:  Matthew J Young; Matthew J Longley; Fang-Yuan Li; Rajesh Kasiviswanathan; Lee-Jun Wong; William C Copeland
Journal:  Hum Mol Genet       Date:  2011-05-09       Impact factor: 6.150

Review 7.  Defects in mitochondrial DNA replication and human disease.

Authors:  William C Copeland
Journal:  Crit Rev Biochem Mol Biol       Date:  2012 Jan-Feb       Impact factor: 8.250

8.  POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Authors:  G Van Goethem; P Luoma; M Rantamäki; A Al Memar; S Kaakkola; P Hackman; R Krahe; A Löfgren; J J Martin; P De Jonghe; A Suomalainen; B Udd; C Van Broeckhoven
Journal:  Neurology       Date:  2004-10-12       Impact factor: 9.910

9.  Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.

Authors:  P S Bindu; A B Taly; K Sonam; C Govindaraju; H R Arvinda; N Gayathri; M M Srinivas Bharath; D Ranjith; M Nagappa; S Sinha; N A Khan; K Thangaraj
Journal:  Br J Radiol       Date:  2014-02       Impact factor: 3.039

Review 10.  Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.

Authors:  K J Kinghorn; M Kaliakatsos; E L Blakely; R W Taylor; P Rich; A Clarke; S Omer
Journal:  J Neurol       Date:  2012-06-24       Impact factor: 4.849
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