Keywords: سندرم Angelman; Angelman syndrome; 15q11.2–q13; Epilepsy; Seizures; Cataplexy
مقالات ISI ترجمه شده سندرم Angelman
مقالات ISI سندرم Angelman (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: سندرم Angelman; Nonconvulsive status epilepticus; Atypical absence; Angelman syndrome; Pediatric; Benzodiazepine; Diazepam;
Keywords: سندرم Angelman; AS; Angelman syndrome; BMI; (â)-bicuculline methiodide; DHPG; (RS)-3,5-dihydroxyphenylglycine; EEG; electroencephalogram; FXS; fragile X syndrome; LTD; long-term depression; mGluR; metabotropic glutamate receptor; MPEP; 2-Methyl-6-(phenylethynyl)pyridin
Keywords: سندرم Angelman; Self-injurious behavior; Intellectual disability; Genes; Genetic syndromes; Angelman syndrome; Cornelia de Lange Syndrome; Cri du Chat Syndrome; Down syndrome; Fragile X syndrome; Lesch-Nyhan syndrome; Lowe syndrome; Prader-Willi syndrome; Rett syndrome;
Keywords: سندرم Angelman; Sleep; Angelman syndrome; Williams syndrome; Prader-Willi syndrome; Infants;
Keywords: سندرم Angelman; Melatonin; Sleep; Developmental disabilities; Autism; Smith-Magenis syndrome; Angelman syndrome;
Keywords: سندرم Angelman; Autism spectrum disorders; Stem cells; Induced pluripotent stem cells; Animal model; Fragile X syndrome; Rett syndrome; Angelman syndrome; Timothy syndrome; Genomic editing
Keywords: سندرم Angelman; Angelman syndrome; Electroencephalography; Epilepsy; Genomic imprinting; Child development;
Myoclonus in Angelman syndrome
Keywords: سندرم Angelman; Angelman syndrome; Myoclonus; Tremors; Nonepileptic myoclonus;
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes
Keywords: سندرم Angelman; ACMG; American College of Medical Genetics; AS; Angelman syndrome; DD/ID; developmental delay/intellectual disability; EEG; electroencephalograph; EVS; Exome Variant Server; ExAC; Exome Aggregation Consortium; IHPRF2; infantile hypotonia with psychomotor
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients
Keywords: سندرم Angelman; AEDs; antiepileptic drugs; AS; Angelman syndrome; EEG; electroencephalogram; ILAE; International League Against Epilepsy; IE; index evaluation; OrSA; Italian Organization for AS; SWI; spike-wave index; UBE3A; ubiquitin protein ligase E3A; Seizures; EEG;
Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital
Keywords: سندرم Angelman; Angelman syndrome; Seizures; Epilepsy; Low glycemic index treatment; LGIT;
Research PaperHypersociability in the Angelman syndrome mouse model
Keywords: سندرم Angelman; UBE3A; Angelman syndrome; Autism; Intellectual disability; Social behavior; Ultrasonic vocalizations;
Eye gaze and pupillary response in Angelman syndrome
Keywords: سندرم Angelman; Angelman syndrome; Pupillometry; Eye tracking; Developmental disabilities;
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome
Keywords: سندرم Angelman; Angelman syndrome; Ube3a; HDAC; Sodium valproate, HDAC inhibitor;
Sleep in children with Angelman syndrome: Parental concerns and priorities
Keywords: سندرم Angelman; Sleep; Angelman syndrome; Parental perspectives;
Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα
Keywords: سندرم Angelman; Dup15q; Duplication 15q syndrome; GABA; Gamma-aminobutyric acid; Ube3a; Ubiquitin-protein ligase E3A (also known as E6AP); Dube3a; Drosophila homolog of Ube3a; AS; Angelman syndrome; ATPα; Na+, K+-ATPase α-subunit; MB; mushroom body; ERGs; Electroretino
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model
Keywords: سندرم Angelman; Angelman syndrome; Seizure; Ganaxolone; Anxiety; Neurosteroid; GABA;
Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital
Keywords: سندرم Angelman; Angelman syndrome; Antiepileptic drug; LGIT; Epilepsy; Seizures;
Angelman syndrome in Hong Kong Chinese: A 20 years’ experience
Keywords: سندرم Angelman; Angelman syndrome; Chinese; Genotype-phenotype characteristics
The Effect of Menstrual Issues on Young Women with Angelman Syndrome
Keywords: سندرم Angelman; Angelman syndrome; Developmental delay; Menstruation; Menses; Menstrual hygiene; Menstrual changes with seizures; Catamenial epilepsy; Dysmenorrhea; Premenstrual syndrome;
Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model
Keywords: سندرم Angelman; Angelman syndrome; Seizure; Ketone ester; Motor coordination; Metabolism; Synaptic plasticity;
False deletion of the D15S986 maternal allele in a suspected case of Angelman syndrome
Keywords: سندرم Angelman; Angelman syndrome; D15S986; ATP10C; Allele dropout; Genetic polymorphism;
Impaired adult hippocampal neurogenesis and its partial reversal by chronic treatment of fluoxetine in a mouse model of Angelman syndrome
Keywords: سندرم Angelman; Angelman syndrome; Neurogenesis; Hippocampus; Fluoxetine; Stress;
The E3 ligase ube3a is required for learning in Drosophila melanogaster
Keywords: سندرم Angelman; Angelman syndrome; Autism; E6-AP; Learning; ube3a;
Of mothers and myelin: Aberrant myelination phenotypes in mouse model of Angelman syndrome are dependent on maternal and dietary influences
Keywords: سندرم Angelman; Angelman syndrome; Ube3a; E6AP; Myelin; Maternal effects; Breeding
Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome
Keywords: سندرم Angelman; Neurodegenerative disorder; Angelman syndrome; Mitochondrial respiratory chain; Coenzyme Q10 analogue; Idebenone; Cytochrome oxidase subunit IV; Glutathione disulfide;
Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes
Keywords: سندرم Angelman; Prader-Willi syndrome; Angelman syndrome; Chromosome 15q11-q13 duplication; Genomic imprinting; Copy number variation; DNA methylation; UBE3A; SNRPN;
Selective multifaceted E3 ubiquitin ligases barricade extreme defense: Potential therapeutic targets for neurodegeneration and ageing
Keywords: سندرم Angelman; AAD; active adenylation domain; 4-PBA; 4-phenylbutyric acid; 6-OHDA; 6-hydroxydopamine; ABCG5/8; ATP-binding cassette sub-family G member 5/8; AD; Alzheimer's disease; AIB1; amplified in breast cancer 1; AIP4; atrophin-1 interacting protein 4; AMPA; α-
Prenatal diagnosis of Prader–Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13
Keywords: سندرم Angelman; Angelman syndrome; Prader–Willi syndrome; Prenatal diagnosis
Perioperative considerations in the patient with Angelman syndrome
Keywords: سندرم Angelman; Angelman syndrome; Anesthesia; Vagal hypertonia; Craniofacial abnormalities
Neurodevelopmental outcome in Angelman syndrome: Genotype-phenotype correlations
Keywords: سندرم Angelman; Angelman syndrome; 15q11.2-q13; Language skills; Autism; ADOS; Mullen; Intellectual disability;
Eating behavior, prenatal and postnatal growth in Angelman syndrome
Keywords: سندرم Angelman; Angelman syndrome; 15q11.2-q13; Eating behavior; Genotype-phenotype; Head circumference; Obesity; Prenatal growth; Postnatal growth;
Research ReportAberrant CaMKII activity in the medial prefrontal cortex is associated with cognitive dysfunction in ADHD model rats
Keywords: سندرم Angelman; ADHD; Attention-deficit/hyperactivity disorder; AS; Angelman Syndrome; ATRX; α-thalassemia X-linked mental retardation; BDNF; brain derived neurotrophic factor; CaMKII; Ca2+/calmodulin- dependent protein kinase II; cAMP; cyclic AMP; CREB; cAMP-responsibl
BDNF mechanisms in late LTP formation: A synthesis and breakdown
Keywords: سندرم Angelman; Brain-derived neurotrophic factor (BDNF); TrkB signaling; Synaptic plasticity; Long-term potentiation (LTP); Protein synthesis; Translation control; Cytoskeletal dynamics; Arc; activity-regulated cytoskeleton-associated protein; AS; Angelman syndrome; AS-
Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint
Keywords: سندرم Angelman; Angelman syndrome; Deletion; Breakpoint; Epilepsy;
Incontinence in individuals with Angelman syndrome: A comparative study
Keywords: سندرم Angelman; Angelman syndrome; Intellectual disability; Incontinence; Behavioral phenotype;
Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals
Keywords: سندرم Angelman; αMSH; alpha-melanocyte-stimulating hormone; AS; Angelman syndrome; ATRN; Attractin (mahogany); ASIP; Agouti signalling protein; BLOC; Biogenesis of lysosomal organelles complex; CCSD; Canine congenital sensorineural deafness; CHS; Chediak-Higashi syndrom
Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman Syndrome
Keywords: سندرم Angelman; Angelman Syndrome; Sleep problems; Bed-time problems; Behavioral treatment; Disruptive behavior;
Recurrent fractures as a new skeletal problem in the course of Angelman syndrome
Keywords: سندرم Angelman; AS, Angelman syndromeBone fractures; Angelman syndrome
Gene therapy and neurodevelopmental disorders
Keywords: سندرم Angelman; Gene therapy; AAV; Neurodevelopmental disorder; Rett syndrome; Angelman syndrome; Lysosomal storage disease
Ube3a/E6AP is involved in a subset of MeCP2 functions
Keywords: سندرم Angelman; Rett syndrome; Angelman syndrome; Ube3a/E6AP; MeCP2;
Screening of UBE3A gene in patients referred for Angelman Syndrome
Keywords: سندرم Angelman; Angelman Syndrome; Electroencephalography (EEG); Microcephaly; UBE3A mutations
Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection?
Keywords: سندرم Angelman; Beckwith-Wiedemann syndrome; Silver-Russell syndrome; Angelman syndrome; Prader-Willi syndrome; retinoblastoma; IVF; ICSI
Discrimination training reduces high rate social approach behaviors in Angelman syndrome: Proof of principle
Keywords: سندرم Angelman; Behavioral phenotype; Aggression; Intervention; Discrimination learning; Errorless learning; Angelman syndrome; Extinction
Behavioral deficits in an Angelman syndrome model: Effects of genetic background and age
Keywords: سندرم Angelman; Angelman syndrome; Conditioned fear; Inbred strain; Morris water maze; Reversal learning; UBE3A
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism
Keywords: سندرم Angelman; ID; intellectual delay; PWS; Prader-Willi syndrome; AS; Angelman syndrome; ADHD; attention deficit hyperactivity disorder; ASD; autistic spectrum disorder; array CGH; array-based comparative genomic hybridisation; CNV; copy number variants; 15q11.2 dele
Another cause of vaccine encephalopathy: A case of Angelman syndrome
Keywords: سندرم Angelman; Vaccination; Dravet syndrome; Angelman syndrome; Neuronal hyperexcitability;
Spatial and temporal silencing of the human maternal UBE3A gene
Keywords: سندرم Angelman; Angelman syndrome; UBE3A; E6-AP; Mouse model; Post-mortem
Sensitive Diffusion Tensor Imaging Quantification Method to Identify Language Pathway Abnormalities in Children with Developmental Delay
Keywords: سندرم Angelman; AP; Anterioposterior; AF; Arcuate fasciculus; AS; Angelman syndrome; DD; Developmental delay; DTI; Diffusion tensor imaging; ML; Mediolateral; TD; Typically developing;