Literature DB >> 30713958

PLA2G6 -Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation.

Paula Pérez-Torre1, Alfonso Escobar Villalba1, Pedro Martínez Ulloa1, Michal Kawiorski1, Adriano Jiménez-Escrig1, Eulalia Bazán2, Rafael Gonzalo-Gobernado2, Antonio S Herranz2.   

Abstract

Entities:  

Keywords:  NBIA2; PLA2G6; Parkinson's disease; exome study; iron accumulation

Year:  2016        PMID： 30713958      PMCID： PMC6353338          DOI： 10.1002/mdc3.12419

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


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  7 in total

1.  Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).

Authors:  Matthew A Bower; Khalaf Bushara; Melissa A Dempsey; Soma Das; Paul J Tuite
Journal:  Mov Disord       Date:  2011-04-25       Impact factor: 10.338

Review 2.  Therapeutic advances in neurodegeneration with brain iron accumulation.

Authors:  Giovanna Zorzi; Federica Zibordi; Luisa Chiapparini; Nardo Nardocci
Journal:  Semin Pediatr Neurol       Date:  2012-06       Impact factor: 1.636

3.  Rapid genetic diagnosis in single-gene movement disorders.

Authors:  Andrew B Singleton
Journal:  Mov Disord       Date:  2012-04       Impact factor: 10.338

4.  Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease.

Authors:  Ya-Xing Gui; Zhong-Ping Xu; Hong-Mei Liu; Jin-Jia Zhao; Xing-Yue Hu
Journal:  Parkinsonism Relat Disord       Date:  2012-11-20       Impact factor: 4.891

Review 5.  Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.

Authors:  Susanne A Schneider; John Hardy; Kailash P Bhatia
Journal:  Mov Disord       Date:  2011-10-26       Impact factor: 10.338

6.  Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Authors:  Susanne A Schneider; Petr Dusek; John Hardy; Ana Westenberger; Joseph Jankovic; Kailash P Bhatia
Journal:  Curr Neuropharmacol       Date:  2013-01       Impact factor: 7.363

Review 7.  Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?

Authors:  Maria Stamelou; Scarlett C Lai; Annu Aggarwal; Susanne A Schneider; Henry Houlden; Tu-Hsueh Yeh; Amit Batla; Chin-Song Lu; Mohit Bhatt; Kailash P Bhatia
Journal:  Mov Disord       Date:  2013-06-04       Impact factor: 10.338
  7 in total
  1 in total

1.  Unusual Presentation of PLA2G6-Related Neurodegeneration with Retinal Vasculitis.

Authors:  Sahil Mehta; Aastha Takkar; Deependra Singh; Aniruddha Aggarwal; Vivek Lal
Journal:  Mov Disord Clin Pract       Date:  2021-11-18
  1 in total

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