Literature DB >> 31970219

"Twitching" and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring?

Martje G Pauly1, Sinem Tunc1,2, Tobias Bäumer1, Gabriele Gillessen-Kaesbach3, Alexander Münchau1.   

Abstract

Entities:  

Keywords:  POLG; myoclonus; myotonia congenita Thomsen

Year:  2019        PMID： 31970219      PMCID： PMC6962667          DOI： 10.1002/mdc3.12860

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


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  6 in total

1.  Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Authors:  Eleonora Lamantea; Valeria Tiranti; Andreina Bordoni; Antonio Toscano; Francesco Bono; Serena Servidei; Alex Papadimitriou; Hans Spelbrink; Laura Silvestri; Giorgio Casari; Giacomo P Comi; Massimo Zeviani
Journal:  Ann Neurol       Date:  2002-08       Impact factor: 10.422

Review 2.  Movement disorders in mitochondrial disease.

Authors:  Roula Ghaoui; Carolyn M Sue
Journal:  J Neurol       Date:  2018-01-06       Impact factor: 4.849

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

Review 4.  Alpers-Huttenlocher syndrome.

Authors:  Russell P Saneto; Bruce H Cohen; William C Copeland; Robert K Naviaux
Journal:  Pediatr Neurol       Date:  2013-03       Impact factor: 3.372

5.  Phenotypic variations in 3 children with POLG1 mutations.

Authors:  Prinyarat Burusnukul; Emily C de los Reyes
Journal:  J Child Neurol       Date:  2009-02-02       Impact factor: 1.987

6.  Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Authors:  Jennifer E Posey; Tamar Harel; Pengfei Liu; Jill A Rosenfeld; Regis A James; Zeynep H Coban Akdemir; Magdalena Walkiewicz; Weimin Bi; Rui Xiao; Yan Ding; Fan Xia; Arthur L Beaudet; Donna M Muzny; Richard A Gibbs; Eric Boerwinkle; Christine M Eng; V Reid Sutton; Chad A Shaw; Sharon E Plon; Yaping Yang; James R Lupski
Journal:  N Engl J Med       Date:  2016-12-07       Impact factor: 91.245
  6 in total
  2 in total

1.  Reply to: Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity.

Authors:  Martje G Pauly; Sinem Tunc; Tobias Bäumer; Gabriele Gillessen-Kaesbach; Alexander Münchau
Journal:  Mov Disord Clin Pract       Date:  2020-05-08

2.  Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity.

Authors:  Josef Finsterer
Journal:  Mov Disord Clin Pract       Date:  2020-05-07
  2 in total

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