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

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

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

http://www.wikidata.org/entity/Q34408564

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Genetics of monoamine neurotransmitter disorders Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders Nonclassical pharmacology of the dopamine transporter: atypical inhibitors, allosteric modulators, and partial substrates Status dystonicus: a practice guide Membrane potential shapes regulation of dopamine transporter trafficking at the plasma membrane The rare DAT coding variant Val559 perturbs DA neuron function, changes behavior, and alters in vivo responses to psychostimulants.Forward genetic analysis to identify determinants of dopamine signaling in Caenorhabditis elegans using swimming-induced paralysis Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.Recombinant Adeno-Associated Virus-mediated rescue of function in a mouse model of Dopamine Transporter Deficiency Syndrome.De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder Clinical spectrum of dopa-responsive dystonia and related disorders Genetic targeting of the amphetamine and methylphenidate-sensitive dopamine transporter: on the path to an animal model of attention-deficit hyperactivity disorder.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Computational and biochemical docking of the irreversible cocaine analog RTI 82 directly demonstrates ligand positioning in the dopamine transporter central substrate-binding site.Studies of the biogenic amine transporters 15. Identification of novel allosteric dopamine transporter ligands with nanomolar potency Regulation of the Dopamine and Vesicular Monoamine Transporters: Pharmacological Targets and Implications for Disease.Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.Clinical approach to Parkinson's disease: features, diagnosis, and principles of management.A new knock-in mouse model of l-DOPA-responsive dystonia.Importance of cholesterol in dopamine transporter function.Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.Animal models for dystonia.Mice expressing markedly reduced striatal dopamine transporters exhibit increased locomotor activity, dopamine uptake turnover rate, and cocaine responsiveness.'That DAT' gene that causes dystonia-parkinsonism: broadening the phenotype Diagnostic issues in childhood and adult dystonia.Emerging common molecular pathways for primary dystonia.What is new for monoamine neurotransmitter disorders?Parkinsonism and inborn errors of metabolism.Monoamine neurotransmitter disorders--clinical advances and future perspectives.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Membrane transporters as mediators of synaptic dopamine dynamics: implications for disease.Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment.Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells.Functional Rescue of a Misfolded Drosophila melanogaster Dopamine Transporter Mutant Associated with a Sleepless Phenotype by Pharmacological Chaperones.Conformational state interactions provide clues to the pharmacochaperone potential of serotonin transporter partial substrates.Genetic elimination of dopamine vesicular stocks in the nigrostriatal pathway replicates Parkinson's disease motor symptoms without neuronal degeneration in adult mice.A salt bridge linking the first intracellular loop with the C terminus facilitates the folding of the serotonin transporter.A cytosolic relay of heat shock proteins HSP70-1A and HSP90β monitors the folding trajectory of the serotonin transporter.

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

http://www.wikidata.org/entity/Q34408564

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2010 nî lūn-bûn

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2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2010年の論文

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Arpad von Moers

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Birgit E Assmann

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Christa Dietrich

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Elizabeth Wraige

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Esther Meyer

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Evangeline Wassmer

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Georg F Hoffmann

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Hans-Jürgen Christen

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Keith Hyland

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Maarten E A Reith

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P2860

Plasma membrane monoamine transporters: structure, regulation and function

Medical management of Parkinson's disease

The pediatric neurotransmitter disorders

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

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

A paradigm shift in brain research.

The neurobiology of slow synaptic transmission.

The dopamine transporter: role in neurotoxicity and human disease.

Monoamine transporters: from genes to behavior.

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

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