Keywords: سندروم رت; Rett syndrome; breathing abnormalities; autonomic dysfunction; stereotypies;
مقالات ISI سندروم رت (ترجمه نشده)
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Keywords: سندروم رت; 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: سندروم رت; IGF-1; Insulin-like growth factor 1; Neurotrophic factors; Central nervous system disorders; CNS development; Neurodevelopmental disorders; ASD; Autism spectrum disorder; Fragile X syndrome; Phelan-McDermid syndrome; Rett syndrome;
Keywords: سندروم رت; Autism spectrum disorders; Stem cells; Induced pluripotent stem cells; Animal model; Fragile X syndrome; Rett syndrome; Angelman syndrome; Timothy syndrome; Genomic editing
Keywords: سندروم رت; Cardiorespiratory coupling; Respiratory sinus arrhythmia; Parasympathetic; Nucleus ambiguus; Pre-Bötzinger complex; Rett syndrome; Sudden Infant Death Syndrome; Apneas of prematurity; Sleep disordered breathing;
Keywords: سندروم رت; Serotonin (5-HT); Control of breathing; Variability; Kölliker-Fuse nuclei (KFN); Gain control; Rett Syndrome; Mecp2-deficient mice
Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation
Keywords: سندروم رت; Anti-MOG antibody encephalitis; Rett syndrome; MECP2; Mutation; MRI;
Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation
Keywords: سندروم رت; Rett syndrome; Congenital variant; Hypoplastic hippocampus; FOXG1; Novel missense mutation;
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation
Keywords: سندروم رت; HECW2; Rett syndrome; Cortical visual impairment;
Assessing cognitive functioning in females with Rett syndrome by eye-tracking methodology
Keywords: سندروم رت; Rett syndrome; Cognitive assessment; Eye-tracking; Eye-gaze technology; Augmentative and alternative communication (AAC);
Electrographic and pharmacological characterization of a progressive epilepsy phenotype in female MeCP2-deficient mice
Keywords: سندروم رت; Rett syndrome; Methyl DNA-binding factor; Electroencephalography; Absence epilepsy; Mouse model;
Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome
Keywords: سندروم رت; NTS; GABA; Rett syndrome; Extrasynaptic receptors; Patch clamp;
First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation
Keywords: سندروم رت; Rett syndrome; MECP2; (c.695G>T;p.G232V); (c.880â¯C>T;p.R294X); TRD (transcription repression domain);
Walking on treadmill with Rett syndrome-Effects on the autonomic nervous system
Keywords: سندروم رت; CP; cerebral palsy; HR; heart rate; BP; blood pressure; DBP; diastolic blood pressure; ECG; electrocardiogram; EEG; electroencephalogram; ISS; international severity score; LVS; Linear Vagal Scale; MAP; mean arterial pressure; pO2; partial pressure of oxy
Neurophysiological and cognitive effects of Transcranial Direct Current Stimulation in three girls with Rett Syndrome with chronic language impairments
Keywords: سندروم رت; Rett syndrome; Cognitive rehabilitation; Transcranial direct current stimulation; Language; Neurophysiology;
The course of awake breathing disturbances across the lifespan in Rett syndrome
Keywords: سندروم رت; CDKL5; human cyclin-dependent kinase-like 5 gene; MeCP2; human methyl-CpG-binding protein 2; MECP2; human methyl-CpG-binding protein 2 gene; Mecp2; murine methyl-CpG-binding protein 2 gene; Rett syndrome; MECP2; Periodic breathing; Dysautonomia; Natural H
Whole exome sequencing identifies a novel 5â¯Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures
Keywords: سندروم رت; RTT; Rett syndrome; MECP2; Methyl-CpG-Binding Protein 2; CDKL5; Cyclin Dependent Kinase Like 5; FOXG1; Forkhead Box G1; OMIM; Online Mendelian Inheritance in Man; PRKD1; Protein Kinase D1; NOVA1; Neurooncologic Ventral Antigen 1; c14orf23; Chromosome 14 O
Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation
Keywords: سندروم رت; MeCP2 Methyl-CpG-binding protein 2; Rett syndrome; Molecular dynamics simulation; Docking; DNA binging domain; Rett causing mutation;
Epilepsy in classic Rett syndrome: Course and characteristics in adult age
Keywords: سندروم رت; Rett syndrome; Epilepsy; Aging; Adulthood; Co-morbidity; Prognosis;
Chronic treatment with the phytocannabinoid Cannabidivarin (CBDV) rescues behavioural alterations and brain atrophy in a mouse model of Rett syndrome
Keywords: سندروم رت; Rett syndrome; Transgenic mice; Phytocannabinoids; Motor coordination; Sociability; GPR55;
Regulation of seizure-induced MeCP2 Ser421 phosphorylation in the developing brain
Keywords: سندروم رت; MeCP2; methyl CpG binding protein 2; CP-AMPARs; calcium-permeable α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPAR) receptors; NMDARs; N-methyl-d-aspartate receptor; LT-VGCCs; l-type voltage gated calcium channels; HS; hypoxic seizures; ASD; a
Correcting deregulated Fxyd1 expression rescues deficits in neuronal arborization and potassium homeostasis in MeCP2 deficient male mice
Keywords: سندروم رت; RTT; Rett Syndrome; MeCP2; methyl-CpG binding protein 2; FXYD1; FXYD (phenyl alanine-any amino acid, tyrosine, aspartic acid domain-containing transport regulator 1; NKA; Sodium/potassium adenosine triphosphatase; Mecp2 deficiency; Neuronal morphology; Po
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment
Keywords: سندروم رت; Congenital nystagmus; Dravet's syndrome; Fragile X syndrome; GABA; Intellectual disability syndrome; Neurofibromatosis type 1; NONO; Rett syndrome; Succinic semialdehyde dehydrogenase deficiency;
Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice
Keywords: سندروم رت; Ab; antibody; bp; base pair; CRISPR/Cas9; clustered regularly interspaced short palindromic repeat/CRISPR associated proteins 9; CREB/miR132; cAMP-response element binding protein/micro RNA 132; hmC; hydroxymethylcytosine; GFAP; glial fibrillary acidic pr
Adult hippocampal MeCP2 preserves the genomic responsiveness to learning required for long-term memory formation
Keywords: سندروم رت; Adult brain; Chromatin structure; Hippocampus-dependent memory; DNA methylation; Plasticity-related genes; Rett syndrome;
Readers of DNA methylation, the MBD family as potential therapeutic targets
Keywords: سندروم رت; NuRD; nucleosome remodeling and deacetylase; CpG; cytosine-guanosine dinucleotide; mCpG; 5-methylcytosine-guanosine dinucleotide; MBD; 5-methylcytosine binding domain; DNMT; DNA methyltransferase; CGI; CpG island; TET; ten-eleven translocation dioxygenase
Ghrelin improves dystonia and tremor in patients with Rett syndrome: A pilot study
Keywords: سندروم رت; Rett syndrome; RTT; SDCF; scoring for different clinical features; BFMDRS; Burke-Fahn-Marsden Dystonia Rating Scale; Rett syndrome; Dystonia; Tremor; Autonomic dysfunction; Ghrelin;
Clinical ObservationsDefining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective
Keywords: سندروم رت; Rett syndrome; hand stereotypies; video analysis; operational definitions; actigraphy;
Proteomic analysis of the Rett syndrome experimental model mecp2Q63X mutant zebrafish
Keywords: سندروم رت; Energy metabolism; Muscle; Oxidative stress; Rett syndrome; Zebrafish;
Original ArticleScoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors
Keywords: سندروم رت; Rett syndrome; scoliosis; MECP2 mutations; surgery; puberty;
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome
Keywords: سندروم رت; Rett syndrome; Epilepsy; Antiepileptic drugs; Age-dependency;
Comprehensive Evaluation on Effect of IMPX977 on Expression of Methyl-CpG-binding Protein 2 in Rats
Keywords: سندروم رت; cerebellum; homeostasis; IMPX977; MeCP2; Rett syndrome;
Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome
Keywords: سندروم رت; Ïapp; apparent density; BFR/BS; bone formation rate per unit of bone surface; BV/TV; bone volume fraction; Ct.Th; cortical thickness; Mecp2-null; hemizygous male missing Mecp2; HET; heterozygous female; MeCP2; human and mouse protein methyl CpG binding p
Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder
Keywords: سندروم رت; Rett syndrome; Mecp2; Breathing; Autonomic function; CO2 chemosensitivity; Brainstem; Animal models;
Reduced axonal diameter of peripheral nerve fibers in a mouse model of Rett syndrome
Keywords: سندروم رت; Rett syndrome; MECP2; sciatic nerve; mitochondria;
Research reportSelective preservation of cholinergic MeCP2 rescues specific Rett-syndrome-like phenotypes in MeCP2stop mice
Keywords: سندروم رت; RTT; Rett syndrome; MeCP2; methyl CpG-binding protein 2; Chat; choline acetyltrasferase; MS; medial septal nucleus; VDB; nucleus of the vertical limb of the diagonal band; HDB; nucleus of the horizontal limb of the diagonal band; PPTg; primarily pedunculo
CX3CR1 ablation ameliorates motor and respiratory dysfunctions and improves survival of a Rett syndrome mouse model
Keywords: سندروم رت; Rett syndrome; MeCP2; Microglia; CX3CR1;
A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome
Keywords: سندروم رت; Rett syndrome; Mecp2; AAV9; Gene therapy; Animal model;
Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome
Keywords: سندروم رت; Rett syndrome; cardiovascular; autonomic dysfunction; heart rate variability; sympathetic; parasympathetic;
The L1 adhesion molecule normalizes neuritogenesis in Rett syndrome-derived neural precursor cells
Keywords: سندروم رت; MeCP2; L1CAM; RTT syndrome; iPSCs; Neuritogenesis; RTT; Rett Syndrome; MeCP2; methyl-CpG-binding protein-2; iPSC; induced pluripotent stem cell; RTT NPC; RTT iPSC-derived neural precursorcell; TRE; tetracycline response element; CAG; chicken beta-actin pr
Subcellular distribution of cyclin-dependent kinase-like 5 (CDKL5) is regulated through phosphorylation by dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A)
Keywords: سندروم رت; CDKL5; DYRK1A; Protein phosphorylation; Rett syndrome; Down syndrome; Amph1; amphiphysin 1; CDKL5; cyclin-dependent kinase-like 5; Dnmt1; DNA methyltransferase 1; DYRK1A; dual specificity tyrosine-phosphorylation-regulated kinase 1A; GST; glutathione S-tr
A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome
Keywords: سندروم رت; Rett syndrome; trofinetide; double-blind; placebo-controlled; treatment;
Suppression of brain cholesterol synthesis in male Mecp2-deficient mice is age dependent and not accompanied by a concurrent change in the rate of fatty acid synthesis
Keywords: سندروم رت; 24S-OHC; 24(S)-hydroxycholesterol; Apoe; apolipoprotein E; CNS; central nervous system; Cyp27a1; cholesterol 27-hydroxylase; Cyp46a1; cholesterol 24-hydroxylase; Hmgcr; 3-hydroxy-3-methylglutaryl-CoA reductase; Mecp2; methyl CpG-binding protein 2; SC4mol;
Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects
Keywords: سندروم رت; 5fC; 5-formylcytosine; 5caC; 5-carboxycytosine; 5mC; 5-methylcytosine; 5hmC; 5-hydroxymethylcytosine; ACTB; b-actin; ASD; autism spectrum disorder; BA; Brodmann area; BDNF; brain derived neurotrophic factor; BDNF-IV; BDNF-promoter 4; BDNF-IX; BDNF-promote
Isoprostanes, neuroprostanes and phytoprostanes: An overview of 25Â years of research in chemistry and biology
Keywords: سندروم رت; Isoprostanes; Neuroprostanes; Phytoprostanes; Lipid Peroxidation; Polyunsaturated fatty acids; AA; Arachidonic acid; AD; Alzheimer's disease; AdA; Adrenic acid; ALA; α-Linolenic acid; APCI; Atmospheric pressure chemical ionization; BHT; Butylated hydroxy
Original ArticleThe Clinical Predictors That Facilitate a Clinician's Decision to Order Genetic Testing for Rett Syndrome
Keywords: سندروم رت; Rett syndrome; MECP2 gene test; stereotypic hand movements; genetic testing for Rett; cognitive/behavioral disorders;
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature
Keywords: سندروم رت; WDR45; NBIA; BPAN; Rett syndrome; Intellectual disability;
Functional outcomes in Rett syndrome
Keywords: سندروم رت; Rett syndrome; Function; Mutation groups
Pharmacologic Treatment of Rett Syndrome With Glatiramer Acetate
Keywords: سندروم رت; Rett syndrome; glatiramer acetate; gait; clinical trial;
Aspects of Attention in Rett Syndrome
Keywords: سندروم رت; Rett syndrome; shifting attention; sustaining attention; orienting; anticipation; eye tracking; executive attention