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Search Articles
Oncotarget, ISSN 1949-2553, 05/2018, Volume 9, Issue 35, pp. 23846 - 23847
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 12/2020, Volume 15, Issue 1, pp. 343 - 343
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Medical records | Diagnosis | Internet videos | Encephalopathy | Analysis | Movement disorders | Pediatrics | Phenotypes | Gait | Myoclonus | Epilepsy | Spasticity | Families & family life | Genomes | Neurodevelopmental disorders | Patients | Literature reviews | Genotype & phenotype | Choreoathetosis | Phenotyping | Mutation | Dystonia | Age | Dyskinesia | Index Medicus | GNAO1 | Early-onset chorea | Early-onset dystonia | Movement disorder | GNAO1 encephalopathy
Journal Article
Journal of the neurological sciences, ISSN 0022-510X, 04/2020, Volume 411, pp. 116710 - 116710
Journal Article
Brain & development (Tokyo. 1979), ISSN 0387-7604, 04/2021, Volume 43, Issue 4, pp. 576 - 579
Journal Article
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
The FASEB journal, ISSN 0892-6638, 12/2020, Volume 34, Issue 12, pp. 16601 - 16621
developmental and epileptic encephalopathy | cytoskeleton | G protein subunit alpha O1 (GNAO1) | spectrin alpha | non‐erythrocytic 1 (SPTAN1) | organoid | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Gene duplication | Mutation | Chromosome 16 | Index Medicus | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article
Journal of child neurology, ISSN 0883-0738, 2018, Volume 33, Issue 6, pp. 413 - 416
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 02/2018, Volume 89, Issue 2, pp. 221 - 222
GNAO1 | Dyskinetic Cerebral Palsy | DBS | Chorea | Hyperkinetic | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Movement Disorders - physiopathology | Movement Disorders - therapy | Humans | Adolescent | Deep Brain Stimulation | Child, Preschool | Female | Male | Movement Disorders - genetics | Child | Disease Progression | Phenomenology | Intensive care | Mutation | Patients | Quality of life | Index Medicus
Journal Article
Pediatric neurology, ISSN 0887-8994, 06/2016, Volume 59, pp. 81 - 84
GNAO1 | chorea | movement disorder | ballismus | whole exome sequencing | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Movement Disorders - physiopathology | Humans | Adolescent | Fatal Outcome | Child, Preschool | Female | Male | Movement Disorders - genetics | Child | Disease Progression | Movement Disorders - drug therapy | Medical colleges | Genetic aspects | Movement disorders | Neurophysiology | Index Medicus
Journal Article
Journal of Neural Transmission, ISSN 0300-9564, 6/2019, Volume 126, Issue 6, pp. 739 - 757
GNAO1 | Methylmalonic acidemia | Neurology | Neurosciences | Medicine & Public Health | Status dystonicus | Deep brain stimulation | Subthalamic nucleus | Dystonia | Psychiatry | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Health aspects | Children | Index Medicus
Journal Article
Neurobiology of disease, ISSN 0969-9961, 08/2018, Volume 116, pp. 131 - 141
GNAO1 | Neurotransmitter | cAMP | Movement disorder | Epilepsy | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Movement Disorders - metabolism | Animals | Humans | Movement Disorders - genetics | Mutation - genetics | GTP-Binding Protein alpha Subunits, Gi-Go - metabolism | Nervous system diseases | Gene mutations | Analysis | Development and progression | Cyclic adenylic acid | G proteins | Movement disorders | Index Medicus
Journal Article