Literature DB >> 34514042

Juvenile Dystonia-Parkinsonism Due to DNAJC6 Mutation.

David Garza-Brambila1, Claudia Nallely Esparza-Hernández1, Jorge Ramirez-Zenteno2, Daniel Martinez-Ramirez1,2.   

Abstract

Entities:  

Keywords:  DNAJC6; cock‐walk gait; early‐onset dystonia‐parkinsonism; juvenile parkinsonism

Year:  2021        PMID： 34514042      PMCID： PMC8414514          DOI： 10.1002/mdc3.13294

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


× No keyword cloud information.
  11 in total

1.  Acute hyperkinetic syndrome due to ephedrone abuse.

Authors:  Anna Dolgan; Slawomir Budrewicz; Magdalena Koszewicz; Joanna Bladowska; Krzysztof Slotwinski; Mieszko Zagrajek; Ewa Koziorowska-Gawron; Ryszard Podemski
Journal:  J Addict Med       Date:  2015 May-Jun       Impact factor: 3.702

Review 2.  Movement Disorders and Neurometabolic Diseases.

Authors:  Celanie K Christensen; Laurence Walsh
Journal:  Semin Pediatr Neurol       Date:  2018-02-14       Impact factor: 1.636

3.  Inherited manganism: the "cock-walk" gait and typical neuroimaging features.

Authors:  Marcela Amaral Avelino; Eduardo Ferracioli Fusão; José Luiz Pedroso; Juliana Harumi Arita; Reinaldo Teixeira Ribeiro; Ricardo Silva Pinho; Karin Tuschl; Orlando G P Barsottini; Marcelo Rodrigues Masruha
Journal:  J Neurol Sci       Date:  2014-04-04       Impact factor: 3.181

Review 4.  Genetics of movement disorders in the next-generation sequencing era.

Authors:  Simone Olgiati; Marialuisa Quadri; Vincenzo Bonifati
Journal:  Mov Disord       Date:  2016-02-22       Impact factor: 10.338

5.  Teaching NeuroImages: Spinocerebellar ataxia type 3 presenting with a cock-walk gait phenotype.

Authors:  Eva Rocha; Thiago Cardoso Vale; Fernando Kok; José Luiz Pedroso; Orlando G Barsottini
Journal:  Neurology       Date:  2017-10-09       Impact factor: 9.910

Review 6.  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

Review 7.  Gait disorders.

Authors:  Alfonso Fasano; Bastiaan R Bloem
Journal:  Continuum (Minneap Minn)       Date:  2013-10

8.  DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Authors:  Çiğdem Köroğlu; Leyla Baysal; Murat Cetinkaya; Hatice Karasoy; Aslıhan Tolun
Journal:  Parkinsonism Relat Disord       Date:  2012-12-02       Impact factor: 4.891

9.  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

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.