Literature DB >> 31970220

Hypermanganesemia with Dystonia 1: A Novel Mutation and Response to Iron Supplementation.

Zuhal Yapici1, Karin Tuschl2,3,4, Mefkure Eraksoy1.   

Abstract

Entities:  

Keywords:  HMNDYT1; SLC30A10; ferrous fumarate; iron; manganese

Year:  2019        PMID： 31970220      PMCID： PMC6962664          DOI： 10.1002/mdc3.12861

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


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  9 in total

1.  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

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.  Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Authors:  Karin Tuschl; Peter T Clayton; Sidney M Gospe; Shamshad Gulab; Shahnaz Ibrahim; Pratibha Singhi; Roosy Aulakh; Reinaldo T Ribeiro; Orlando G Barsottini; Maha S Zaki; Maria Luz Del Rosario; Sarah Dyack; Victoria Price; Andrea Rideout; Kevin Gordon; Ron A Wevers; W K Kling Chong; Philippa B Mills
Journal:  Am J Hum Genet       Date:  2012-02-16       Impact factor: 11.025

4.  Parkinsonism due to manganism in a welder: neurological and neuropsychological sequelae.

Authors:  Rosemarie M Bowler; William Koller; Paul E Schulz
Journal:  Neurotoxicology       Date:  2006-02-07       Impact factor: 4.294

Review 5.  Manganese (Mn) and iron (Fe): interdependency of transport and regulation.

Authors:  Vanessa A Fitsanakis; Na Zhang; Stephanie Garcia; Michael Aschner
Journal:  Neurotox Res       Date:  2009-11-18       Impact factor: 3.911

6.  Pathology of inherited manganese transporter deficiency.

Authors:  Mirna Lechpammer; Michael S Clegg; Zukhrofi Muzar; Philip A Huebner; Lee-Way Jin; Sidney M Gospe
Journal:  Ann Neurol       Date:  2014-04-14       Impact factor: 10.422

7.  Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

Authors:  M S Zaki; M Y Issa; H M Elbendary; H El-Karaksy; H Hosny; C Ghobrial; A El Safty; A El-Hennawy; A Oraby; L Selim; M S Abdel-Hamid
Journal:  Clin Genet       Date:  2018-02-11       Impact factor: 4.438

8.  Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.

Authors:  Karin Tuschl; Philippa B Mills; Howard Parsons; Marian Malone; Darren Fowler; Maria Bitner-Glindzicz; Peter T Clayton
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

Review 9.  Advances in Treatment of Wilson Disease.

Authors:  Annu Aggarwal; Mohit Bhatt
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-02-28
  9 in total
  3 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

2.  Oromandibular Dystonia - A Systematic Review.

Authors:  Udit Saraf; Mitesh Chandarana; K P Divya; Syam Krishnan
Journal:  Ann Indian Acad Neurol       Date:  2021-10-22       Impact factor: 1.383

Review 3.  The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis.

Authors:  James W W Winslow; Kirsten H Limesand; Ningning Zhao
Journal:  Int J Mol Sci       Date:  2020-05-07       Impact factor: 5.923
  3 in total

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