Literature DB >> 32559632

Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.

Giovanna De Michele1, Daniele Galatolo2, Maria Lieto1, Tommasina Fico1, Francesco Saccà1, Filippo M Santorelli2, Alessandro Filla3.   

Abstract

Entities:  

Keywords:  ATP13A2; Ataxia; Kufor-Rakeb syndrome; Myoclonus

Mesh：

Substances：

Year:  2020        PMID： 32559632     DOI： 10.1016/j.parkreldis.2020.06.001

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


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  2 in total

1.  Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene.

Authors:  Leire Manrique; Antonio Sánchez-Rodríguez; Ana L Pelayo-Negro; Marc Corral-Juan; Antoni Matilla-Dueñas; Jon Infante
Journal:  Mov Disord Clin Pract       Date:  2021-06-14

2.  Chemical Regulation of the Protein Quality Control E3 Ubiquitin Ligase C-Terminus of Hsc70 Interacting Protein (CHIP).

Authors:  Adam J Kanack; Michael D Olp; Oliver J Newsom; Jamie B Scaglione; David M Gooden; Kevin McMahon; Brian C Smith; K Matthew Scaglione
Journal:  Chembiochem       Date:  2022-02-03       Impact factor: 3.461
  2 in total

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