Monoamine neurotransmitter disorders—clinical advances and future perspectives

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

(2015) Claudio Graziano et al.   GENE

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

(2015) C. Ortez et al.   MOLECULAR GENETICS AND METABOLISM

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

(2015) Paldeep S. Atwal et al.   MOLECULAR GENETICS AND METABOLISM

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

(2015) Saadet Mercimek-Mahmutoglu et al.   Orphanet Journal of Rare Diseases

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

(2015) A.J. Lewthwaite et al.   PARKINSONISM & RELATED DISORDERS

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

(2014) Kailash P. Bhatia   BRAIN

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

(2014) Joanne Ng et al.   BRAIN

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

(2014) Niccolò E. Mencacci et al.   BRAIN

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

(2014) Pin-Wen Chen et al.   CLINICA CHIMICA ACTA

Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes

(2014) D. Simaite et al.   DIABETES

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

(2014) Riccardo Montioli et al.   HUMAN MOLECULAR GENETICS

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD

(2014) Freja H. Hansen et al.   JOURNAL OF CLINICAL INVESTIGATION

What is new for monoamine neurotransmitter disorders?

(2014) Clara Marecos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2014) Stéphane Palfi et al.   LANCET

Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders

(2014) J. Ng et al.   PEDIATRIC DRUGS

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

(2013) Mari Saito et al.   BRAIN & DEVELOPMENT

Genetic Correction of a LRRK2 Mutation in Human iPSCs Links Parkinsonian Neurodegeneration to ERK-Dependent Changes in Gene Expression

(2013) Peter Reinhardt et al.   Cell Stem Cell

Pharmacokinetics, Safety and Tolerability of Rotigotine Transdermal Patch in Healthy Japanese and Caucasian Subjects

(2013) Willi Cawello et al.   CLINICAL DRUG INVESTIGATION

What is the role of dopamine in childhood neurological disorders?

(2013) Manju A Kurian   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

(2013) Marta Molero-Luis et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Aromatic L-Amino Acid Decarboxylase Deficiency Is a Cause of Long-Fasting Hypoglycemia

(2013) Jean-Baptiste Arnoux et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

(2013) S. Ferre et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

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

(2013) Thomas Opladen et al.   MOLECULAR GENETICS AND METABOLISM

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

(2013) Roser Pons et al.   MOVEMENT DISORDERS

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

(2013) Mario Mastrangelo et al.   MOVEMENT DISORDERS

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

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

(2013) Dali Li et al.   NATURE BIOTECHNOLOGY

Very early pattern of movement disorders in sepiapterin reductase deficiency

(2013) V. Leuzzi et al.   NEUROLOGY

Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment

(2013) Jennifer J. Rilstone et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2013) H. Aitkenhead et al.   ANNALS OF CLINICAL BIOCHEMISTRY

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

(2012) Katarzyna Derwińska et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

(2012) Ryan E. O’Leary et al.   European Journal of Medical Genetics

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

(2012) Thomas Opladen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia: Hallmarks of sepiapterin reductase deficiency

(2012) P. Dill et al.   NEUROLOGY

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

(2012) M. Stamelou et al.   NEUROLOGY

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease

(2012) Eduardo López-Laso et al.   PEDIATRIC NEUROLOGY

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

(2011) Jennifer Friedman et al.   ANNALS OF NEUROLOGY

LRRK2 Mutant iPSC-Derived DA Neurons Demonstrate Increased Susceptibility to Oxidative Stress

(2011) Ha Nam Nguyen et al.   Cell Stem Cell

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

(2011) Sandra Brasil et al.   HUMAN MUTATION

Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy

(2011) Jae-Hyeok Lee et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

(2011) Manju A Kurian et al.   LANCET NEUROLOGY

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

“Stiff Neonate” With Mitochondrial DNA Depletion and Secondary Neurotransmitter Defects

(2011) Margaret M. Moran et al.   PEDIATRIC NEUROLOGY

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

(2011) M. du Moulin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple coregulatory control of tyrosine hydroxylase gene transcription

(2011) S. D. N. Reddy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

(2010) M. A. Willemsen et al.   BRAIN

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

(2010) Philippa B. Mills et al.   BRAIN

Hereditary progressive dystonia with marked diurnal fluctuation

(2010) Masaya Segawa   BRAIN & DEVELOPMENT

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

(2010) V Leuzzi et al.   CLINICAL GENETICS

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

(2010) RUSSELL C DALE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2010) Annabel Whibley et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Advances Pertaining to the Pharmacology and Interactions of Irreversible Nonselective Monoamine Oxidase Inhibitors

(2010) Peter Kenneth Gillman   JOURNAL OF CLINICAL PSYCHOPHARMACOLOGY

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

(2010) Elisa De Grandis et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

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

(2010) Manju A Kurian et al.   LANCET NEUROLOGY

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

(2010) Thomas Opladen et al.   MOVEMENT DISORDERS

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

(2010) L. Brun et al.   NEUROLOGY

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

(2010) Lars Hagberg et al.   AIDS Research and Therapy

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

(2009) F. Clot et al.   BRAIN

Movement disorders in children: Recent advances in management

(2009) Emilio Fernández-Alvarez   INDIAN JOURNAL OF PEDIATRICS

Disorders of biopterin metabolism

(2009) Nicola Longo   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2009) C. Manegold et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2009) I Trender-Gerhard et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2009) George F.G. Allen et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) C.M. Mak et al.   MOLECULAR GENETICS AND METABOLISM

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

(2009) F. Porta et al.   NEUROLOGY

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

(2008) Isaac Marín-Valencia et al.   CLINICAL BIOCHEMISTRY

Aromatic l-amino acid decarboxylase deficiency in Taiwan

(2008) Hsiu-Fen Lee et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Quantitative Regulation of Intracellular Endothelial Nitric-oxide Synthase (eNOS) Coupling by Both Tetrahydrobiopterin-eNOS Stoichiometry and Biopterin Redox Status

(2008) Mark J. Crabtree et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) Gabriella A. Horvath et al.   MOLECULAR GENETICS AND METABOLISM

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

(2008) J. L. Eberling et al.   NEUROLOGY

Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

(2007) Sofia Duarte et al.   BRAIN & DEVELOPMENT

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

(2007) Leandra Jäggi et al.   MOLECULAR GENETICS AND METABOLISM