Literature DB >> 30713959

Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation.

Masoom M Abbas1, Shyla T Govindappa1, Una-Marie Sheerin2, Kailash P Bhatia3, Uday B Muthane1.   

Abstract

Entities:  

Keywords:  Kufor‐Rakeb syndrome; early onset atypical parkinsonism; exome sequence

Year:  2016        PMID： 30713959      PMCID： PMC6353396          DOI： 10.1002/mdc3.12353

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


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  5 in total

1.  PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.

Authors:  Y P Ning; K Kanai; H Tomiyama; Y Li; M Funayama; H Yoshino; S Sato; M Asahina; S Kuwabara; A Takeda; T Hattori; Y Mizuno; N Hattori
Journal:  Neurology       Date:  2008-04-15       Impact factor: 9.910

2.  Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.

Authors:  A S Najim al-Din; A Wriekat; A Mubaidin; M Dasouki; M Hiari
Journal:  Acta Neurol Scand       Date:  1994-05       Impact factor: 3.209

3.  Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

Authors:  Lucio Santoro; Guido J Breedveld; Fiore Manganelli; Rosa Iodice; Chiara Pisciotta; Maria Nolano; Francesca Punzo; Mario Quarantelli; Sabina Pappatà; Alessio Di Fonzo; Ben A Oostra; Vincenzo Bonifati
Journal:  Neurogenetics       Date:  2010-09-21       Impact factor: 2.660

4.  Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.

Authors:  Agata Podhajska; Alessandra Musso; Alzbeta Trancikova; Klodjan Stafa; Roger Moser; Sarah Sonnay; Liliane Glauser; Darren J Moore
Journal:  PLoS One       Date:  2012-06-29       Impact factor: 3.240

5.  ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Authors:  A Di Fonzo; H F Chien; M Socal; S Giraudo; C Tassorelli; G Iliceto; G Fabbrini; R Marconi; E Fincati; G Abbruzzese; P Marini; F Squitieri; M W Horstink; P Montagna; A Dalla Libera; F Stocchi; S Goldwurm; J J Ferreira; G Meco; E Martignoni; L Lopiano; L B Jardim; B A Oostra; E R Barbosa; V Bonifati
Journal:  Neurology       Date:  2007-05-08       Impact factor: 9.910
  5 in total
  1 in total

1.  Structural basis of polyamine transport by human ATP13A2 (PARK9).

Authors:  Sue Im Sim; Sören von Bülow; Gerhard Hummer; Eunyong Park
Journal:  Mol Cell       Date:  2021-10-28       Impact factor: 17.970
  1 in total

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