(Q38590771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Monoamine neurotransmitter disorders--clinical advances and future perspectives (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Apostolos Papandreou

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Simon J Heales

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Manju A Kurian

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

language of work or name

English

0 references

publication date

22 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

published in

Nature Reviews Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

567-584

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/nrneurol.2015.172

24 February 2020

exact match

0 references

cites work

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An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

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Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

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Dyskinesias as a limiting factor in the treatment of Segawa disease

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

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

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

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Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.

21 January 2018

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

21 January 2018

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The long-term response to levodopa in dopa-responsive dystonia

21 January 2018

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Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

21 January 2018

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Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

21 January 2018

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Very early pattern of movement disorders in sepiapterin reductase deficiency.

21 January 2018

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Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

21 January 2018

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Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

21 January 2018

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Quantitative regulation of intracellular endothelial nitric-oxide synthase (eNOS) coupling by both tetrahydrobiopterin-eNOS stoichiometry and biopterin redox status: insights from cells with tet-regulated GTP cyclohydrolase I expression

21 January 2018

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Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

21 January 2018

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Characterization of a Cofactor That Regulates Dimerization of a Mammalian Homeodomain Protein

21 January 2018

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Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

21 January 2018

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Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese

21 January 2018

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Tyrosine hydroxylase deficiency presenting with a biphasic clinical course

21 January 2018

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Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

21 January 2018

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Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

21 January 2018

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Amantadine reduces levodopa-induced dyskinesias in parkinsonian monkeys

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency in Taiwan

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.

21 January 2018

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Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

21 January 2018

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L-3,4-dihydroxyphenylalanine (levodopa) lowers central nervous system S-adenosylmethionine concentrations in humans

21 January 2018

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Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

21 January 2018

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

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

21 January 2018

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Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders

21 January 2018

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Pharmacokinetics, safety and tolerability of rotigotine transdermal patch in healthy Japanese and Caucasian subjects

21 January 2018

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

21 January 2018

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

21 January 2018

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Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

21 January 2018

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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

21 January 2018

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Multiple coregulatory control of tyrosine hydroxylase gene transcription

21 January 2018

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3,4-dihydroxyphenylalanine reverses the motor deficits in Pitx3-deficient aphakia mice: behavioral characterization of a novel genetic model of Parkinson's disease.

21 January 2018

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Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice

21 January 2018

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Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes

21 January 2018

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De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine

21 January 2018

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Advances pertaining to the pharmacology and interactions of irreversible nonselective monoamine oxidase inhibitors

21 January 2018

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Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

21 January 2018

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MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.

21 January 2018

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A spontaneous point mutation produces monoamine oxidase A/B knock-out mice with greatly elevated monoamines and anxiety-like behavior

21 January 2018

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Vesicular transport regulates monoamine storage and release but is not essential for amphetamine action.

21 January 2018

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Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

21 January 2018

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Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

21 January 2018

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'That DAT' gene that causes dystonia-parkinsonism: broadening the phenotype

21 January 2018

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

21 January 2018

1 reference

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Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

21 January 2018

1 reference

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Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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What is new for monoamine neurotransmitter disorders?

21 January 2018

1 reference

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Cerebrospinal fluid neopterin: an informative biomarker of central nervous system immune activation in HIV-1 infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

21 January 2018

1 reference

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Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

21 January 2018

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What is the role of dopamine in childhood neurological disorders?

21 January 2018

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LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress

21 January 2018

1 reference

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Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression

21 January 2018

1 reference

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Cerebral organoids model human brain development and microcephaly

21 January 2018

1 reference

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Efficient genome editing in zebrafish using a CRISPR-Cas system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Heritable gene targeting in the mouse and rat using a CRISPR-Cas system.

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

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

21 January 2018

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Results from a phase I safety trial of hAADC gene therapy for Parkinson disease

21 January 2018

1 reference

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Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson's disease: a dose escalation, open-label, phase 1/2 trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

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

21 January 2018

1 reference

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Recessive mutations in PCBD1 cause a new type of early-onset diabetes

21 January 2018

1 reference

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Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

21 January 2018

2 references

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21 January 2018

12 December 2020

Catecholamines in the periphery. Overview.

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Serotonin and vasoconstrictor synergism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Establishment of paediatric age-related reference intervals for serum prolactin to aid in the diagnosis of neurometabolic conditions affecting dopamine metabolism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Aberrant phenylalanine metabolism in phenylketonuria heterozygotes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Birthweight in patients with defective biopterin metabolism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Secondary abnormalities of neurotransmitters in infants with neurological disorders

31 March 2020

2 references

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

31 March 2020

12 December 2020

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/10.1038%2FNRNEUROL.2015.172

"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Gene therapy for aromatic L-amino acid decarboxylase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2015.172

Neopterin concentrations in cerebrospinal fluid and serum as an aid in differentiating central nervous system and peripheral infections in children

31 March 2020

1 reference

12 December 2020

The occurrence, distribution and physiological role of catecholamines in the nervous system

1 reference

12 December 2020

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).

1 reference

12 December 2020

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

1 reference

12 December 2020

Tetrahydrobiopterin biosynthetic activities in human macrophages, fibroblasts, THP-1, and T 24 cells. GTP-cyclohydrolase I is stimulated by interferon-gamma, and 6-pyruvoyl tetrahydropterin synthase and sepiapterin reductase are constitutively prese

1 reference

12 December 2020

d,l-threo-3,4-dihydroxyphenylserine restores sympathetic control and cures orthostatic hypotension in dopamine beta-hydroxylase deficiency

1 reference

12 December 2020

Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states

1 reference

12 December 2020

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation

1 reference

12 December 2020

10.1038/NRNEUROL.2015.172

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392380%20AND%20SRC:MED&resulttype=core&format=json