Literature DB >> 34514043

Commentary: Juvenile Dystonia-Parkinsonism due to DNAJC6 Mutation.

Orlando Barsottini1, David Garza-Brambila2, Claudia Nallely Esparza-Hernández2, Jorge Ramirez-Zenteno3, Daniel Martinez-Ramirez2, Alfonso Fasano4,5,6,7.   

Abstract

Entities:  

Keywords:  DNAJC6 mutation; dystonia‐parkinsonism syndrome; juvenile parkinsonism

Year:  2021        PMID: 34514043      PMCID: PMC8414502          DOI: 10.1002/mdc3.13305

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


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  3 in total

Review 1.  Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.

Authors:  Hugo Morales-Briceño; Shekeeb S Mohammad; Bart Post; Alessandro F Fois; Russell C Dale; Michel Tchan; Victor S C Fung
Journal:  Brain       Date:  2020-03-01       Impact factor: 13.501

2.  DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Authors:  Simone Olgiati; Marialuisa Quadri; Mingyan Fang; Janneke P M A Rood; Jonas A Saute; Hsin Fen Chien; Christian G Bouwkamp; Josja Graafland; Michelle Minneboo; Guido J Breedveld; Jianguo Zhang; Frans W Verheijen; Agnita J W Boon; Anneke J A Kievit; Laura Bannach Jardim; Wim Mandemakers; Egberto Reis Barbosa; Carlos R M Rieder; Klaus L Leenders; Jun Wang; Vincenzo Bonifati
Journal:  Ann Neurol       Date:  2016-01-14       Impact factor: 10.422

3.  DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

Authors:  Joanne Ng; Elisenda Cortès-Saladelafont; Lucia Abela; Pichet Termsarasab; Kshitij Mankad; Sniya Sudhakar; Kathleen M Gorman; Simon J R Heales; Simon Pope; Lorenzo Biassoni; Barbara Csányi; John Cain; Karl Rakshi; Helen Coutts; Sandeep Jayawant; Rosalind Jefferson; Deborah Hughes; Àngels García-Cazorla; Detelina Grozeva; F Lucy Raymond; Belén Pérez-Dueñas; Christian De Goede; Toni S Pearson; Esther Meyer; Manju A Kurian
Journal:  Mov Disord       Date:  2020-05-30       Impact factor: 10.338

  3 in total

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