Literature DB >> 21094623

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.

David Crosiers, Berten Ceulemans, Bram Meeus, Karen Nuytemans, Philippe Pals, Christine Van Broeckhoven, Patrick Cras, Jessie Theuns.   

Abstract

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Year:  2010        PMID： 21094623     DOI： 10.1016/j.parkreldis.2010.10.011

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  22 in total

Review 1.  Genetics of neurodegeneration with brain iron accumulation.

Authors:  Allison Gregory; Susan J Hayflick
Journal:  Curr Neurol Neurosci Rep       Date:  2011-06       Impact factor: 5.081

Review 2.  The neuropathology of neurodegeneration with brain iron accumulation.

Authors:  Michael C Kruer
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

3.  PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.

Authors:  David Ramonet; Agata Podhajska; Klodjan Stafa; Sarah Sonnay; Alzbeta Trancikova; Elpida Tsika; Olga Pletnikova; Juan C Troncoso; Liliane Glauser; Darren J Moore
Journal:  Hum Mol Genet       Date:  2011-12-20       Impact factor: 6.150

4.  Is Pallido-Pyramidal Syndrome Still a Useful Concept? No.

Authors:  Hugo Morales-Briceño; Victor S C Fung
Journal:  Mov Disord Clin Pract       Date:  2019-10-14

5.  Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Authors:  Alejandro Estrada-Cuzcano; Shaun Martin; Teodora Chamova; Matthis Synofzik; Dagmar Timmann; Tine Holemans; Albena Andreeva; Jennifer Reichbauer; Riet De Rycke; Dae-In Chang; Sarah van Veen; Jean Samuel; Ludger Schöls; Thorsten Pöppel; Danny Mollerup Sørensen; Bob Asselbergh; Christine Klein; Stephan Zuchner; Albena Jordanova; Peter Vangheluwe; Ivailo Tournev; Rebecca Schüle
Journal:  Brain       Date:  2017-02       Impact factor: 13.501

6.  Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.

Authors:  Jason P Covy; Elisa A Waxman; Benoit I Giasson
Journal:  J Neurosci Res       Date:  2012-07-30       Impact factor: 4.164

7.  Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.

Authors:  Kai Gao; Zhi Song; Hui Liang; Wen Zheng; Xiong Deng; Yi Yuan; Yongxiang Zhao; Hao Deng
Journal:  Mol Biol Rep       Date:  2014-01-14       Impact factor: 2.316

8.  Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.

Authors:  Mohammad Rohani; Anthony E Lang; Farzad Sina; Elahe Elahi; Alfonso Fasano; John Hardy; Jose Bras; Afagh Alavi
Journal:  Mov Disord Clin Pract       Date:  2017-12-28

Review 9.  A Practical Approach to Early-Onset Parkinsonism.

Authors:  Giulietta M Riboldi; Emanuele Frattini; Edoardo Monfrini; Steven J Frucht; Alessio Di Fonzo
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.568

10.  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
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