(Q34202466)

31 July 2017

1 reference

title

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes (English)

1 reference

31 July 2017

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Paul Gissen

2

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ORCID Public Data File 2021

Peter Theodore Clayton

1 reference

ORCID Public Data File 2021

author name string

Manju A Kurian

1

1 reference

31 July 2017

Martin Smith

3

1 reference

31 July 2017

Simon Heales

4

1 reference

31 July 2017

Peter T Clayton

5

1 reference

31 July 2017

language of work or name

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1 August 2011

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31 July 2017

1 reference

31 July 2017

10

1 reference

31 July 2017

8

1 reference

31 July 2017

721-733

1 reference

Neurotransmitters and neuromodulators during early human development.

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Inherited disorders of neurotransmitters in children and adults

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

The loading of neurotransmitters into synaptic vesicles

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Monoamine transporters: from genes to behavior

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Interacting neurotransmitter systems. A non-experimental approach to the 5HIAA-HVA correlation in human CSF.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

On the presence of 3-hydroxytyramine in brain.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Monoamine distribution in primate brain. III. Catecholamine-containing varicosities in the hypothalamus of Macaca mulatta

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Monoamine distribution in primate brain-IV. Indoleamine-containing perikarya in the brain stem of Macaca arctoides

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Monoamine distribution in primate brain. V. Monoaminergic nuclei: Anatomy, pathways, and local organization

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Plasma membrane monoamine transporters: structure, regulation and function

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Perspectives on the discovery of central monoaminergic neurotransmission

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

A paradigm shift in brain research

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

The neurobiology of slow synaptic transmission

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Distribution of serotonin-immunoreactivity in the central nervous system of the rat-cell bodies and terminals

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Altered behavioral responses mediated by serotonin receptors in the genetically dystonic (dt) rat

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Movement Disorders Associated With the Serotonin Selective Reuptake Inhibitors

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Serotonin: a regulator of neuronal morphology and circuitry

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Cerebrospinal fluid investigations for neurometabolic disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Neurotransmitter metabolites in CSF: an external quality control scheme

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Disorders of biopterin metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Diagnosis and treatment of neurotransmitter disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

The phenylalanine loading test in the differential diagnosis of dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Aberrant phenylalanine metabolism in phenylketonuria heterozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Hereditary progressive dystonia with marked diurnal fluctuation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Sleep and rhythm consequences of a genetically induced loss of serotonin.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Dihydropteridine reductase deficiency in man: from biology to treatment

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Neurotransmitters in CSF of idiopathic adult-onset dystonia: reduced 5-HIAA levels as evidence of impaired serotonergic metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Mitochondrial diseases mimicking neurotransmitter defects.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Secondary abnormalities of neurotransmitters in infants with neurological disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

Spontaneous periodic hypothermia and hyperhidrosis: a possibly novel cerebral neurotransmitter disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970141-7

7 January 2021

10.1016/S1474-4422(11)70141-7

Identifiers

DOI

1 reference

release_josmhk3hxjco3hc7daar7bjcne

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/josmhk3hxjco3hc7daar7bjcne

24 November 2022

mapped directly with Wikidata item

1 reference