Literature DB >> 32626807

Benign SLC39A14 Course of Dystonia-Parkinsonism Secondary to Inherited Manganese Accumulation.

Montaser Namnah1, Max Bauer1, Hagar Mor-Shaked2, Susan B Bressman3, Deborah Raymond3, Laurie J Ozelius4, David Arkadir1.   

Abstract

Entities:  

Keywords:  SLC39A14; chelation therapy; manganese accumulation

Year:  2020        PMID： 32626807      PMCID： PMC7328422          DOI： 10.1002/mdc3.12947

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


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  5 in total

1.  Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.

Authors:  Adel Zeglam; Abdusalam Abugrara; Mariam Kabuka
Journal:  Acta Neurol Belg       Date:  2018-09-19       Impact factor: 2.396

2.  Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

Authors:  Marialuisa Quadri; Antonio Federico; Tianna Zhao; Guido J Breedveld; Carla Battisti; Cathérine Delnooz; Lies-Anne Severijnen; Lara Di Toro Mammarella; Andrea Mignarri; Lucia Monti; Antioco Sanna; Peng Lu; Francesca Punzo; Giovanni Cossu; Rob Willemsen; Fabrizio Rasi; Ben A Oostra; Bart P van de Warrenburg; Vincenzo Bonifati
Journal:  Am J Hum Genet       Date:  2012-02-16       Impact factor: 11.025

3.  A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.

Authors:  Monica Juneja; Uzma Shamim; Aditi Joshi; Aaradhna Mathur; Bharathram Uppili; Smitha Sairam; Sakshi Ambawat; Rashmi Dixit; Mohammed Faruq
Journal:  J Gene Med       Date:  2018-03-23       Impact factor: 4.565

4.  Chelation therapy of manganese intoxication with para-aminosalicylic acid (PAS) in Sprague-Dawley rats.

Authors:  Wei Zheng; Yue-Ming Jiang; Yanshu Zhang; Wendy Jiang; Xueqian Wang; Dallas M Cowan
Journal:  Neurotoxicology       Date:  2008-12-25       Impact factor: 4.294

5.  Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Authors:  Karin Tuschl; Esther Meyer; Leonardo E Valdivia; Ningning Zhao; Chris Dadswell; Alaa Abdul-Sada; Christina Y Hung; Michael A Simpson; W K Chong; Thomas S Jacques; Randy L Woltjer; Simon Eaton; Allison Gregory; Lynn Sanford; Eleanna Kara; Henry Houlden; Stephan M Cuno; Holger Prokisch; Lorella Valletta; Valeria Tiranti; Rasha Younis; Eamonn R Maher; John Spencer; Ania Straatman-Iwanowska; Paul Gissen; Laila A M Selim; Guillem Pintos-Morell; Wifredo Coroleu-Lletget; Shekeeb S Mohammad; Sangeetha Yoganathan; Russell C Dale; Maya Thomas; Jason Rihel; Olaf A Bodamer; Caroline A Enns; Susan J Hayflick; Peter T Clayton; Philippa B Mills; Manju A Kurian; Stephen W Wilson
Journal:  Nat Commun       Date:  2016-05-27       Impact factor: 14.919
  5 in total
  1 in total

1.  Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.

Authors:  Divyani Garg; Sangeetha Yoganathan; Uzma Shamim; Kshitij Mankad; Parveen Gulati; Vincenzo Bonifati; Abhijeet Botre; Umesh Kalane; Arushi Gahlot Saini; Naveen Sankhyan; Kavita Srivastava; Vykuntaraju K Gowda; Monica Juneja; Mahesh Kamate; Hansashree Padmanabha; Debasis Panigrahi; Shaila Pachapure; Vrajesh Udani; Atin Kumar; Sanjay Pandey; Maya Thomas; Sumita Danda; Shaikh Atif Iqbalahmed; Annadurai Subramanian; Harish Pemde; Varinder Singh; Mohammed Faruq; Suvasini Sharma
Journal:  Mov Disord Clin Pract       Date:  2022-08-12
  1 in total

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