(Q34408564)

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Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

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scholarly article

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17 January 2020

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study (English)

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17 January 2020

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infantile parkinsonism-dystonia

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3

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17 January 2020

Finbar O'Callaghan

11

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17 January 2020

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17 January 2020

22

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17 January 2020

author name string

Manju A Kurian

1

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17 January 2020

Yan Li

2

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17 January 2020

Esther Meyer

4

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17 January 2020

Nebula Hai

5

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17 January 2020

Hans-Jürgen Christen

6

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17 January 2020

Georg F Hoffmann

7

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17 January 2020

Philip Jardine

8

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17 January 2020

Arpad von Moers

9

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17 January 2020

Santosh R Mordekar

10

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17 January 2020

Evangeline Wassmer

12

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17 January 2020

Elizabeth Wraige

13

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17 January 2020

Christa Dietrich

14

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17 January 2020

Timothy Lewis

15

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17 January 2020

Keith Hyland

16

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17 January 2020

Simon Heales

17

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17 January 2020

Terence Sanger

18

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17 January 2020

Birgit E Assmann

20

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17 January 2020

Maarten E A Reith

21

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17 January 2020

publication date

25 November 2010

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17 January 2020

Lancet Neurology

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17 January 2020

10

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17 January 2020

1

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17 January 2020

54-62

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17 January 2020

Bivalent phenethylamines as novel dopamine transporter inhibitors: evidence for multiple substrate-binding sites in a single transporter.

1 reference

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6 July 2018

Medical management of Parkinson's disease

1 reference

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6 July 2018

Infantile parkinsonism-dystonia: a dopamine "transportopathy"

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

6 July 2018

Deep brain stimulation for pediatric movement disorders

1 reference

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6 July 2018

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

1 reference

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6 July 2018

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

1 reference

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6 July 2018

Dopamine spillover after quantal release: rethinking dopamine transmission in the nigrostriatal pathway

1 reference

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6 July 2018

The pediatric neurotransmitter disorders

1 reference

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6 July 2018

The dopamine transporter: role in neurotoxicity and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

6 July 2018

Mutation of Trp84 and Asp313 of the dopamine transporter reveals similar mode of binding interaction for GBR12909 and benztropine as opposed to cocaine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

6 July 2018

The role of N-glycosylation in function and surface trafficking of the human dopamine transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

6 July 2018

Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

6 July 2018

Plasma membrane monoamine transporters: structure, regulation and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

6 July 2018

Monoamine transporters: from genes to behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

6 July 2018

The neurobiology of slow synaptic transmission

1 reference

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6 July 2018

A paradigm shift in brain research

1 reference

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6 July 2018

Biochemical hallmarks of tyrosine hydroxylase deficiency.

1 reference

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6 July 2018

Monoamine metabolites in lumbar CSF: the question of their origin in relation to clinical studies

1 reference

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6 July 2018

Perspectives on the discovery of central monoaminergic neurotransmission

1 reference

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6 July 2018

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

27 October 2018

Mitochondrial diseases mimicking neurotransmitter defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

27 October 2018

Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

27 October 2018

Neurotransmitter metabolites in CSF: an external quality control scheme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

27 October 2018

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002401

27 October 2018

Cerebrospinal fluid investigations for neurometabolic disorders.

1 reference

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27 October 2018

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

1 reference

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9 December 2018

Identifiers

10.1016/S1474-4422(10)70269-6

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17 January 2020

1 reference

Europe PubMed Central

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17 January 2020

1 reference

Europe PubMed Central

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17 January 2020

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