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Pediatric Neurology, ISSN 0887-8994, 2015, Volume 52, Issue 1, pp. 56 - 64
Abstract Background ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including... 
Pediatrics | Neurology | CAPOS syndrome | ataxia | rapid-onset dystonia-Parkinsonism | dystonia | ATP1A3 | hemiplegia | alternating hemiplegia of childhood | sodium potassium ATPases | FLUNARIZINE | CEREBRAL EDEMA | ALPHA-3 | MIGRAINE | CLINICAL NEUROLOGY | NA/K-ATPASE | DE-NOVO MUTATIONS | CLINICAL-MANIFESTATIONS | GENE | PEDIATRICS | CALCIUM-CHANNEL | Sodium-Potassium-Exchanging ATPase - genetics | Humans | Foot Deformities, Congenital - genetics | Hemiplegia - therapy | Cerebellar Ataxia - physiopathology | Hemiplegia - diagnosis | Hearing Loss, Sensorineural - diagnosis | Foot Deformities, Congenital - physiopathology | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Hemiplegia - physiopathology | Child | Optic Atrophy - diagnosis | Optic Atrophy - genetics | Diagnosis, Differential | Dystonic Disorders - genetics | Optic Atrophy - physiopathology | Foot Deformities, Congenital - diagnosis | Foot Deformities, Congenital - therapy | Hearing Loss, Sensorineural - genetics | Reflex, Abnormal - genetics | Optic Atrophy - therapy | Phenotype | Animals | Cerebellar Ataxia - genetics | Cerebellar Ataxia - therapy | Dystonic Disorders - diagnosis | Hearing Loss, Sensorineural - therapy | Hemiplegia - genetics | Mutation | Cerebellar Ataxia - diagnosis | Hearing Loss, Sensorineural - physiopathology | Hemiplegia | Genetic aspects | Parkinson's disease | Dystonia
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1754 - 1762
The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis.... 
BAF complex | exome analysis | SMARCA2 | ARID1B | facial dysmorphology analysis | COFFIN-SIRIS SYNDROME | GENOTYPE | GENETICS & HEREDITY | PHENOTYPE | CLINICAL EXOME | Face - abnormalities | Humans | Hypotrichosis - physiopathology | Hypotrichosis - genetics | Foot Deformities, Congenital - genetics | Male | Craniofacial Abnormalities - physiopathology | Hand Deformities, Congenital - diagnosis | Hypotrichosis - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Muscular Atrophy - physiopathology | Facies | Foot Deformities, Congenital - physiopathology | Muscular Atrophy - diagnosis | Female | Nuclear Proteins - genetics | Neck - physiopathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Micrognathism - physiopathology | Micrognathism - genetics | Foot Deformities, Congenital - diagnosis | Muscular Atrophy - genetics | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Exome - genetics | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Mutation | Pathology, Molecular | Genetic research | Genes | Genetic aspects
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2018, Volume 26, Issue 6, pp. 876 - 885
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2017, Volume 26, Issue 7, pp. 1280 - 1293
Journal Article
Brain Structure and Function, ISSN 1863-2653, 6/2016, Volume 221, Issue 5, pp. 2487 - 2491
Cortical development is a complex process where a multitude of factors, including cadherins, plays an important role and where disruptions are known to have... 
Neurology | Neurosciences | Biomedicine | Left–right differentiation | Functional cerebral asymmetries | Dichotic listening | Cell Biology | Lateralization | Van maldergem syndrome | ANATOMY & MORPHOLOGY | LEFT-RIGHT ASYMMETRY | Left-right differentiation | NEUROSCIENCES | Humans | Joint Instability - genetics | Foot Deformities, Congenital - genetics | Male | Electroencephalography | Craniofacial Abnormalities - physiopathology | Craniofacial Abnormalities - psychology | Hand Deformities, Congenital - psychology | Cerebral Cortex - physiopathology | Intellectual Disability - genetics | Tumor Suppressor Proteins - genetics | Foot Deformities, Congenital - physiopathology | Joint Instability - psychology | Cadherins - genetics | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Acoustic Stimulation | Abnormalities, Multiple - psychology | Cadherins - physiology | Functional Laterality | Abnormalities, Multiple - physiopathology | Evoked Potentials, Auditory | Intellectual Disability - physiopathology | Tumor Suppressor Proteins - physiology | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Dichotic Listening Tests | Intellectual Disability - psychology | Mutation | Joint Instability - physiopathology | Foot Deformities, Congenital - psychology | Neurons | Psychophysiology | Stem cells | Medical genetics | Neurophysiology | Mammals | Brain
Journal Article
Brain and Development, ISSN 0387-7604, 08/2018, Volume 40, Issue 7, pp. 576 - 581
Journal Article
Journal Article
Journal Article
Foot & Ankle International, ISSN 1071-1007, 5/2017, Volume 38, Issue 5, pp. 526 - 531
Journal Article
Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeo