Literature DB >> 24276520

Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations.

L Di Toro Mammarella1, A Mignarri, C Battisti, L Monti, V Bonifati, F Rasi, A Federico.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 24276520     DOI： 10.1007/s00415-013-7187-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  6 in total

1.  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

2.  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

3.  Chronic acquired hepatocerebral degeneration, pallidal T1 MRI hyperintensity and manganese in a series of cirrhotic patients.

Authors:  Elisa Maffeo; Anna Montuschi; Guido Stura; Maria Teresa Giordana
Journal:  Neurol Sci       Date:  2013-05-28       Impact factor: 3.307

4.  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

5.  Manganese and chronic hepatic encephalopathy.

Authors:  D Krieger; S Krieger; O Jansen; P Gass; L Theilmann; H Lichtnecker
Journal:  Lancet       Date:  1995-07-29       Impact factor: 79.321

6.  Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.

Authors:  Maria Stamelou; Karin Tuschl; W K Chong; Andrew K Burroughs; Philippa B Mills; Kailash P Bhatia; Peter T Clayton
Journal:  Mov Disord       Date:  2012-08-23       Impact factor: 10.338
  6 in total
  9 in total

Review 1.  Classification and differential diagnosis of Wilson's disease.

Authors:  Wieland Hermann
Journal:  Ann Transl Med       Date:  2019-04

2.  Manganese-induced Neurotoxicity: From C. elegans to Humans.

Authors:  Pan Chen; Sudipta Chakraborty; Tanara V Peres; Aaron B Bowman; Michael Aschner
Journal:  Toxicol Res (Camb)       Date:  2015-03-01       Impact factor: 3.524

3.  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

Review 4.  Manganese-Induced Parkinsonism Is Not Idiopathic Parkinson's Disease: Environmental and Genetic Evidence.

Authors:  Tomás R Guilarte; Kalynda K Gonzales
Journal:  Toxicol Sci       Date:  2015-08       Impact factor: 4.849

5.  From the liver to the brain: manganese matters: focus on cirrhosis-related Parkinsonism.

Authors:  Andrea Mignarri; Antonio Federico
Journal:  Neurol Sci       Date:  2014-04       Impact factor: 3.307

Review 6.  Manganese-induced neurodegenerative diseases and possible therapeutic approaches.

Authors:  Airton C Martins; Priscila Gubert; Gustavo R Villas Boas; Marina Meirelles Paes; Abel Santamaría; Eunsook Lee; Alexey A Tinkov; Aaron B Bowman; Michael Aschner
Journal:  Expert Rev Neurother       Date:  2020-09-02       Impact factor: 4.618

Review 7.  Wilson's disease and other neurological copper disorders.

Authors:  Oliver Bandmann; Karl Heinz Weiss; Stephen G Kaler
Journal:  Lancet Neurol       Date:  2015-01       Impact factor: 44.182

8.  Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasis.

Authors:  Zhidan Xia; Jiayu Wei; Yingniang Li; Jia Wang; Wenwen Li; Kai Wang; Xiaoli Hong; Lu Zhao; Caiyong Chen; Junxia Min; Fudi Wang
Journal:  PLoS Genet       Date:  2017-07-10       Impact factor: 5.917

9.  Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

Authors:  L Marti-Sanchez; J D Ortigoza-Escobar; A Darling; M Villaronga; H Baide; M Molero-Luis; M Batllori; M I Vanegas; J Muchart; L Aquino; R Artuch; A Macaya; M A Kurian; Pérez Dueñas
Journal:  Orphanet J Rare Dis       Date:  2018-01-30       Impact factor: 4.123
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.