Keywords: FXTS; Inherited autosomal cerebellar ataxia; Dentate nuclei; Atrophy; Magnetic resonance imaging (MRI); Susceptibility-weighted imaging (SWI); AOA1; Ataxia with Oculomotor Apraxia Type 1; AOA2; Ataxia with Oculomotor Apraxia Type 2; AT; Ataxia-Telangiectasia; A
مقالات ISI FXTS (ترجمه نشده)
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Keywords: FXTS; DSB; DNA double-strand break; RNAP; RNA polymerase; FXS; fragile X syndrome; FXTAS; fragile X-associated tremor/ataxia syndrome; ssDNA; single-stranded DNA; G-Q; G-quadruplex; KD; knockdown; TDRD3; tudor domain-containing protein 3; FA; Fanconi anemia; AL
Keywords: FXTS; AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; AT; ataxia telangiectasia; BER; base excision repair; BFB; breakage-fusion-bridge; BMDCs; bone marrow-derived cells; BS; Bloom syndrome; CIN; chromosome instability; CNS; central nervous syste
Keywords: FXTS; Tremor; Parkinson's disease; Essential tremor; Dystonia; FXTAS; Functional tremor;
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing
Keywords: FXTS; FXS; Fragile X syndrome; FM; full mutation; FXTAS; fragile X-associated tremor and ataxia; ID; intellectual disability; KS; Klinefelter syndrome; PM; premutation; POF/POI; premature ovarian failure/primary ovarian insufficiency; TS; Turner syndrome; UTR;
Age-related functional brain changes in FMR1 premutation carriers
Keywords: FXTS; Fragile X premutation; FXTAS; fMRI; Neuroimaging; Neurodegeneration;
Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome
Keywords: FXTS; Microsatellite expansion; FXTAS; FMR1; RAN translation; RNA gelation;
Diagnostic et prise en charge d'un syndrome tremblement-ataxie lié à une prémutation de l'X fragile : le syndrome FXTAS
Keywords: FXTS; FXTAS; Prémutation X-fragile; FXTAS; Fragile X premutation;
2D and 3D FISH of expanded repeat RNAs in human lymphoblasts
Keywords: FXTS; DM; myotonic dystrophy; HD; Huntington's disease; ALS/FTD; amyotrophic lateral sclerosis/frontotemporal dementia; FXTAS; fragile X-associated tremor/ataxia syndrome; FISH; fluorescence in situ hybridization; IF; immunofluorescence; Fluorescence in situ
Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation
Keywords: FXTS; Fragile X; FXTAS; Fragile X premutation; FMR1; MRI; Neurodegenerative disorder;
Altered expression of the FMR1 splicing variants landscape in premutation carriers
Keywords: FXTS; Alternative splicing; FMR1 gene; FXTAS; RNA toxicity; SMRT sequencing; Isoforms;
RNA FISH for detecting expanded repeats in human diseases
Keywords: FXTS; DM; myotonic dystrophy; HD; Huntington's disease; SCA; spinocerebellar ataxia; DRPLA; dentatorubral-pallidoluysian atrophy; HDL2; Huntington disease-like 2; ALS/FTD; amyotrophic lateral sclerosis/frontotemporal dementia; FXTAS; fragile X-associated trem
The long non-coding RNA FMR4 promotes proliferation of human neural precursor cells and epigenetic regulation of gene expression in trans
Keywords: FXTS; FXS; Fragile X syndrome; FXPOI; Fragile X-related primary ovarian insufficiency; FXTAS; Fragile X-associated tremor/ataxia syndrome; FMRP; Fragile X mental retardation protein; ncRNAs; Non-coding RNAs; mRNA; Messenger RNA; lncRNAs; Long non-coding RNAs; A
Memory deficits, gait ataxia and neuronal loss in the hippocampus and cerebellum in mice that are heterozygous for Pur-alpha
Keywords: FXTS; FMRP; FMR protein; FXTAS; Fragile X Tremor Ataxia Syndrome; HAND; HIV-1 associated neurological disease; animals; mice; knockout; brain pathology; PURA; puralpha;
Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome
Keywords: FXTS; Fragile X-associated tremor/ataxia syndrome; Deep brain stimulation (DBS); Ventral intermedial thalamus (Vim); Gait; Kinematic analysis; FXTAS; fragile X-associated tremor/ataxia syndrome; DBS; deep brain stimulation; Vim; nucleus ventralis intermedius th
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome
Keywords: FXTS; FXTAS; Iron; Fragile X; Neurodegeneration; FMR1; Autism; Premutation; CGG repeat; Choroid plexus
Fragile X premutation carriers: A systematic review of neuroimaging findings
Keywords: FXTS; Fragile X syndrome; Fragile X premutation; Premutation carriers; FXTAS; Neuroimaging; MRI;
Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome
Keywords: FXTS; FMR1; Fragile X Mental Retardation-1; FXPOI; Fragile X-associated primary ovarian insufficiency; FXS; Fragile X syndrome; FXTAS; Fragile X-associated tremor ataxia syndrome;
Identification of FXTAS presenting with SCA 12 like phenotype in India
Keywords: FXTS; FXTAS; SCA12; Tremor and ataxia;
Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome
Keywords: FXTS; FMR1; FMRP; Premutation; Fragile X tremor/ataxia syndrome; FXTAS; Glu transporters; EAAT1; EAAT2; mGluR5;
High-throughput screening of FDA-approved drugs using oxygen biosensor plates reveals secondary mitofunctional effects
Keywords: FXTS; FXTAS; Fragile X syndrome; LHON; Leber's hereditary neuropathy; AMPK; AMP-activated protein kinase; OCR; oxygen consumption rate; ECAR; extracellular acidification rate; Mitochondrial disease; Oxygen; Bioenergetics; High-throughput screening;
Inherited leukoencephalopathies with clinical onset in middle and old age
Keywords: FXTS; ADLD; Adult onset autosomal dominant leukodystrophy; CADASIL; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL; Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;
Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: An overview of Down syndrome, autism, Fragile X and Rett syndrome
Keywords: FXTS; Intellectual disability; Mitochondria; Mitochondrial dysfunction; Oxidative phosphorylation; Neurogenesis; Neuroplasticity; Down syndrome; Rett syndrome; Autism; Fragile X; Oxidative stress; Drug development; Epigallocatechine-3-gallate; ANT; adenine nucl
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome
Keywords: FXTS; FXTAS; Premutation; Genetics; Volumetric MRI; DTI;
ReviewRNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome
Keywords: FXTS; FXTAS; rCGG repeats; FMR1;
Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome
Keywords: FXTS; PPI; Prepulse inhibition; Fragile X premutation; Sensorimotor gating; FXTAS
Neurodegeneration the RNA way
Keywords: FXTS; AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; APP; amyloid precursor protein; Aβ42; amyloid β - 42 amino acids; CUGBP1; CUG binding protein 1; DM1; myotonic dystrophy type 1; DM2; myotonic dystrophy type 2; FTD; frontotemporal dementia;
Rodzinne występowanie zespołu FXTAS powodowanego premutacją w genie FMR1
Keywords: FXTS; FXTAS; premutacją; FMR1; głęboka stymulacja mózguFXTAS; premutation; FMR1; deep brain stimulation
Decreased Fragile X Mental Retardation Protein Expression Underlies Amygdala Dysfunction in Carriers of the Fragile X Premutation
Keywords: FXTS; Amygdala; FMR1; fragile X; FXTAS; insula; premutation
FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients
Keywords: FXTS; FMR1; SPECT; FXTAS; Parkinsonism; Dopamine
Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation
Keywords: FXTS; FXTAS; Mouse model; Neurodegenerative disorder; Cellular pathology; Astrocyte; Microglia; Oligodendrocyte
RNA-mediated pathogenesis in fragile X-associated disorders
Keywords: FXTS; Noncoding RNAs; FMR1; Fragile X syndrome; FXTAS;
FMR1: A gene with three faces
Keywords: FXTS; FMR1; POI; FXTAS; Expanded repeat; CGG repeat; Mental retardation;
Ataxie cérébelleuse tardive due à la prémutation de l'X fragile
Keywords: FXTS; FXTAS; Prémutation de l'X fragile; Ataxie cérébelleuse; Gène FMR1; Répétition trinucléotide; FXTAS; Fragile X permutation; Cerebellar ataxia; FMR1 gene; Trinucleotide repeat;
Altered hypothalamus–pituitary–adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome
Keywords: FXTS; FXTAS; Fmr1; CGG-repeat; Corticosterone; HPA axis; Inclusions
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
Keywords: FXTS; FXTAS; Fragile X premutation; Dementia; Anxiety disorder; Mood disorder
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation
Keywords: FXTS; Fragile X syndrome; CGG repeat; FXTAS; FMRP; FMR1; Repeat instability; CpG methylation; mRNA
The Fragile X premutation: new insights and clinical consequences
Keywords: FXTS; Fragile X; Premutation; FXTAS; POF; FMR1