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Journal Article
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2011, Volume 10, Issue 1, pp. 54 - 62
Summary Background Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine... 
Neurology | METABOLITES | TRANSMISSION | INFANTILE PARKINSONISM-DYSTONIA | CSF | NEUROSCIENCE | DISORDERS | TYROSINE-HYDROXYLASE DEFICIENCY | MONOAMINE TRANSPORTERS | CLINICAL NEUROLOGY | Brain - diagnostic imaging | Dystonia - cerebrospinal fluid | Parkinsonian Disorders - cerebrospinal fluid | Tomography, Emission-Computed, Single-Photon - methods | Humans | Child, Preschool | Dopamine Plasma Membrane Transport Proteins - deficiency | Hydroxyindoleacetic Acid - cerebrospinal fluid | Infant | Male | Ocular Motility Disorders - genetics | Dystonia - genetics | Transfection - methods | Parkinsonian Disorders - diagnostic imaging | Female | Parkinsonian Disorders - genetics | Retrospective Studies | Homovanillic Acid - cerebrospinal fluid | Child | Parkinsonian Disorders - physiopathology | Dystonia - physiopathology | Mutation - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Brain - pathology | Ocular Motility Disorders - physiopathology | Dystonia - diagnostic imaging | Cell Line, Transformed | Cohort Studies | Medical colleges | Medical research | Neurosciences | Dopamine | Molecular genetics | Medicine, Experimental | Phenols | Genetic aspects | Biomedical engineering | Index Medicus | Pediatrics | Basal ganglia | Congenital defects | Central nervous system diseases | homovanillic acid | Photons | Cerebrospinal fluid | Pyramidal tracts | Drug development | Hereditary diseases | Eye | Hospitals | Computed tomography | Phenotyping | Dopamine transporter | Children | Mutation | Paralysis | Age | Movement disorders | Fast track
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1243 - 1248
Journal Article
Lancet, The, ISSN 0140-6736, 2017, Volume 389, pp. S41 - S41
Abstract Background Paediatric relapsing demyelinating syndromes of the CNS define a group of diseases that have different phenotypes. Although for some of... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Multiple sclerosis | Algorithms | Diagnosis | Myelin proteins | Viral antibodies | Analysis | Aquaporins | Antibodies | Diagnostic imaging | Children
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2013, Volume 84, Issue 7, pp. 748 - 755
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2009, Volume 41, Issue 7, pp. 829 - U89
Journal Article
Annals of Neurology, ISSN 0364-5134, 05/2016, Volume 79, Issue 5, pp. 784 - 793
Arterial ischemic stroke (AIS) is an important cause of acquired brain injury in children. Few prospective population-based studies of childhood AIS have been... 
Confidence intervals | Pediatrics | Population
Journal Article