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Journal of neuroradiology, ISSN 0150-9861, 04/2020
Journal Article
Autophagy, ISSN 1554-8627, 06/2015, Volume 11, Issue 6, pp. 881 - 890
fEPSP, field excitatory postsynaptic potential | SQSTM1, sequestosome-1 | epg, ectopic P granule | neurodegeneration | SENDA, static encephalopathy of childhood with neurodegeneration in adulthood | BPAN, β-propeller protein-associated neurodegeneration | axon swelling | H&E, hematoxylin and eosin | AMC, aminomethylcoumarin | LC3, microtubule-associated protein 1 light chain 3 | NBIA, neurodegeneration with brain iron accumulation | Atg, autophagy-related | rpm, rotations per min | autophagy | ACTB, β-actin | CALB, calbindin | WT, wild type | LTP, long-term potentiation | GFAP, glial fibrillary acid protein | CNS, central nervous system | Ei24, etoposide-induced gene 24 | MBP, myelin basic protein | learning and memory | KO, knockout | RBFOX3, RNA binding protein, fox-1 homolog (C. elegans) 3 | Wdr45/Wipi4 | WDR5/WIPI4, WD repeat domain 45 | DCN, deep cerebellar nuclei | Learning and memory | Axon swelling | Neurodegeneration | Autophagy | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Carrier Proteins - genetics | Learning - physiology | Animals | Axons - metabolism | Mice, Transgenic | Autophagy - physiology | Autophagy - genetics | Neurodegenerative Diseases - metabolism | Mutation - genetics | Homeostasis - genetics | Memory - physiology | Index Medicus
Journal Article
Autophagy, ISSN 1554-8627, 04/2020, Volume 16, Issue 4, pp. 615 - 625
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
Autophagy, ISSN 1554-8627, 03/2020, Volume 16, Issue 3, pp. 531 - 547
Journal Article
Autophagy, ISSN 1554-8627, 11/2017, Volume 13, Issue 11, pp. 1870 - 1883
Journal Article
Pediatric neurology, ISSN 0887-8994, 08/2020, Volume 109, pp. 56 - 62
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
European journal of medical genetics, ISSN 1769-7212, 02/2019, Volume 62, Issue 2, pp. 149 - 160
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 10/2018, Volume 141, Issue 10, pp. 3052 - 3064
iron | autophagy | WDR45 | mitochondria | dopaminergic neurons | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Iron Overload - genetics | Dopaminergic Neurons - pathology | Humans | Cells, Cultured | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | Neurodegenerative Diseases - genetics | Autophagy - physiology | Mitochondria - pathology | Fibroblasts - pathology | Iron - metabolism | Iron Overload - physiopathology | Neurodegenerative Diseases - complications | Carrier Proteins - genetics | Neurodegenerative Diseases - physiopathology | Dopaminergic Neurons - metabolism | Female | Lysosomes - pathology | Mutation | Induced Pluripotent Stem Cells | Fibroblasts - metabolism | Index Medicus | Abridged Index Medicus | Editor's Choice | Original
Journal Article