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European Journal of Neurology, ISSN 1351-5101, 09/2019, Volume 26, Issue 9, pp. 1141 - 1142
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 05/2016, Volume 9, Issue 5, pp. 513 - 527
Journal Article
Journal of Neurology, ISSN 0340-5354, 4/2012, Volume 259, Issue 4, pp. 761 - 763
Cell outgrowth and migration in the developing nervous system result from guidance cues, whose molecular bases and clinical correlates are only partly known.... 
Neurology | Neurosciences | Klippel–Feil syndrome | Medicine & Public Health | Mirror movements | Duane syndrome | Axonal disorder | Neuroradiology | Wildervanck’s syndrome
Journal Article
Journal Article
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2015, Volume 19, Issue 2, pp. 191 - 192
“Mirror movements” are an axonal guidance disorder that consists of involuntary contralateral movements that mimic unilateral intentional ones, typically... 
Ophthalmology | OPHTHALMOLOGY | PEDIATRICS | Cranial Nerves - abnormalities | Oculomotor Nerve Diseases - congenital | Humans | Movement Disorders - congenital | Strabismus - congenital | Male | Consanguinity | Child | Oculomotor Muscles - innervation | Genetic disorders | Paralysis | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 646 - 651
Journal Article
Pediatrics, ISSN 0031-4005, 03/2016, Volume 137, Issue 3, pp. e20151771 - e20151771
Journal Article
Journal Article
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 11/2015, Volume 135, Issue 20, p. 1852
Journal Article
Molecular Biology of the Cell, ISSN 1059-1524, 11/2012, Volume 23, Issue 21, pp. 4175 - 4187
Congenital disorder of glycosylation (PMM2-CDG) results from mutations in pmm2, which encodes the phosphomannomutase (Pmm) that converts mannose-6-phosphate... 
TRANSPORT | SYNDROME TYPE-I | GENE | CONGENITAL DISORDERS | PROTEINS | STRESS | CELL BIOLOGY | Spinal Cord - drug effects | Cartilage - pathology | Congenital Disorders of Glycosylation - enzymology | Craniofacial Abnormalities - embryology | Lipopolysaccharides - metabolism | Cartilage - drug effects | Glycosylation - drug effects | Zebrafish - embryology | Embryo, Nonmammalian - drug effects | Congenital Disorders of Glycosylation - pathology | Motor Neurons - pathology | Chondrocytes - drug effects | Spinal Cord - pathology | Skull - abnormalities | Craniofacial Abnormalities - pathology | Neurogenesis - drug effects | Skull - drug effects | Chondrocytes - metabolism | Congenital Disorders of Glycosylation - genetics | Motor Neurons - drug effects | Disease Models, Animal | Chondrocytes - pathology | Movement - drug effects | Cartilage - embryology | Phosphotransferases (Phosphomutases) - genetics | Zebrafish Proteins - metabolism | Gene Expression Regulation, Developmental - drug effects | Mannose-6-Phosphate Isomerase - metabolism | Zebrafish - genetics | Cell Shape - drug effects | Skull - embryology | Spinal Cord - embryology | Embryo, Nonmammalian - abnormalities | Zebrafish Proteins - deficiency | Animals | Embryo, Nonmammalian - enzymology | Substrate Specificity - drug effects | Mannosephosphates - metabolism | Phosphotransferases (Phosphomutases) - metabolism | Zebrafish - metabolism | Morpholinos - pharmacology | Zebrafish Proteins - genetics | Phosphotransferases (Phosphomutases) - deficiency | Index Medicus
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 2015, Volume 13, Issue 4, pp. 213 - 224
  This article analyzes the pattern of movement disorders in children with primary defects of biogenic amine metabolism emerging during the first 3 year of... 
movement disorders | neurotransmitter diseases | biogenic amine | children | Histamine | Congenital diseases | Disease | Neural networks | Fish | Metabolism | Patients | Age | Posture | Defects
Journal Article