(Q35843237)

10 August 2017

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease (English)

1 reference

10 August 2017

1 reference

chronic liver disease

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parkinsonian syndrome

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19

Vincenzo Bonifati

1 reference

10 August 2017

17

Ben A Oostra

1 reference

10 August 2017

14

Giovanni Cossu

1 reference

10 August 2017

Marialuisa Quadri

1

1 reference

10 August 2017

Antonio Federico

2

1 reference

10 August 2017

Tianna Zhao

3

1 reference

10 August 2017

Guido J Breedveld

4

1 reference

10 August 2017

Carla Battisti

5

1 reference

10 August 2017

Cathérine Delnooz

6

1 reference

10 August 2017

Lies-Anne Severijnen

7

1 reference

10 August 2017

Lara Di Toro Mammarella

8

1 reference

10 August 2017

Andrea Mignarri

9

1 reference

10 August 2017

Lucia Monti

10

1 reference

10 August 2017

Antioco Sanna

11

1 reference

10 August 2017

Peng Lu

12

1 reference

10 August 2017

Francesca Punzo

13

1 reference

10 August 2017

Rob Willemsen

15

1 reference

10 August 2017

Fabrizio Rasi

16

1 reference

10 August 2017

Bart P van de Warrenburg

18

1 reference

10 August 2017

language of work or name

English

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publication date

16 February 2012

1 reference

American Journal of Human Genetics

10 August 2017

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10 August 2017

90

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10 August 2017

3

1 reference

10 August 2017

467-477

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Role of manganese in neurodegenerative diseases

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Manganese toxicity in a child with iron deficiency and polycythemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Manganese encephalopathy: an under-recognized condition in the intensive care unit

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Long evolutionary conservation and considerable tissue specificity of several atypical solute carrier transporters

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Metal toxicity, liver disease and neurodegeneration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Regulation of metallothioneins and ZnT-1 transporter expression in human hepatoma cells HepG2 exposed to zinc and cadmium

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Demonstration and characterization of the heterodimerization of ZnT5 and ZnT6 in the early secretory pathway.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Identification of the Zn2+ binding site and mode of operation of a mammalian Zn2+ transporter

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Phylogenetic and functional analysis of the Cation Diffusion Facilitator (CDF) family: improved signature and prediction of substrate specificity.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Homeostatic and toxic mechanisms regulating manganese uptake, retention, and elimination

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Differential regulation of zinc efflux transporters ZnT-1, ZnT-5 and ZnT-7 gene expression by zinc levels: a real-time RT-PCR study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Genes Encoding Proteins of the Cation Diffusion Facilitator Family That Confer Manganese Tolerance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Regulation of the erythropoietin gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Manganism and idiopathic parkinsonism: similarities and differences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Cloning and functional characterization of a mammalian zinc transporter that confers resistance to zinc

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Chronic manganese intoxication

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

A Parkinsonian syndrome in methcathinone users and the role of manganese

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Manganic encephalopathy due to "ephedrone" abuse

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

The natural history of neurological manganism over 18 years.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309204

24 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22341971

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.01.017

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

22341971

1 reference