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2008, ISBN 9780195324266, xiv, 295
Book
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2018, Volume 60, Issue 12, pp. 1256 - 1263
Journal Article
Neurology, ISSN 0028-3878, 09/2014, Volume 83, Issue 12, pp. 1087 - 1095
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 04/2014, Volume 82, Issue 2, pp. 334 - 349
The ocular motility disorder “Congenital fibrosis of the extraocular muscles type 1” (CFEOM1) results from heterozygous mutations altering the motor and third... 
PROTEIN 1B | CONGENITAL FIBROSIS | KINESIN KIF21A | PERIPHERAL NERVOUS-SYSTEM | MAP1B | EXTRAOCULAR-MUSCLES TYPE-1 | NEURONS | GUIDANCE | DYSINNERVATION | MICROTUBULE DYNAMICS | NEUROSCIENCES | Age Factors | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Cell Count | Humans | Oculomotor Nerve - pathology | Green Fluorescent Proteins - genetics | Neural Pathways - pathology | Ocular Motility Disorders - genetics | Oculomotor Nerve - ultrastructure | Axons - ultrastructure | HEK293 Cells | Kinesin - genetics | Disease Models, Animal | Animals, Newborn | Green Fluorescent Proteins - metabolism | Fibrosis - genetics | Ocular Motility Disorders - pathology | Eye Diseases, Hereditary - pathology | Eye Movements - physiology | Eye Diseases, Hereditary - physiopathology | Fibrosis - physiopathology | Gene Expression Regulation - genetics | Mice, Transgenic | Mutation - genetics | Eye Diseases, Hereditary - genetics | Kinesin - metabolism | Microtubule-Associated Proteins - physiology | Eye Movements - genetics | Animals | Axons - pathology | Neural Pathways - metabolism | Mice | Ocular Motility Disorders - physiopathology | Fibrosis - pathology | Neural Pathways - ultrastructure | Neurosciences | Genetic aspects | Genetic disorders | Analysis | Proteins | Pathology | Motility | Pathogenesis | Neurons | Rodents | Mutation | Experiments | Index Medicus
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
Journal Article
Annals of Neurology, ISSN 0364-5134, 03/2014, Volume 75, Issue 3, pp. 429 - 434
Journal Article
Journal Article