Published in Hum Mol Genet on October 20, 2005
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron (2007) 3.30
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron (2007) 3.17
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron (2013) 2.94
Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol (2010) 2.30
A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98
Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA (2007) 1.87
Advances in understanding the molecular basis of FXTAS. Hum Mol Genet (2010) 1.83
CGG repeat in the FMR1 gene: size matters. Clin Genet (2011) 1.68
Microsatellite repeat instability and neurological disease. Bioessays (2009) 1.60
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem (2008) 1.59
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging (2008) 1.57
Fragile X and autism: Intertwined at the molecular level leading to targeted treatments. Mol Autism (2010) 1.57
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep (2013) 1.56
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res (2008) 1.46
Neurodegeneration the RNA way. Prog Neurobiol (2011) 1.43
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol (2013) 1.41
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes (Basel) (2016) 1.38
The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet (2009) 1.37
Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics (2010) 1.31
Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency. J Histochem Cytochem (2012) 1.29
The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. J Clin Exp Neuropsychol (2008) 1.29
Progressive spatial processing deficits in a mouse model of the fragile X premutation. Behav Neurosci (2009) 1.28
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry (2007) 1.26
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. Hum Mol Genet (2010) 1.24
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2011) 1.23
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol (2008) 1.16
Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet (2012) 1.15
CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS. Hum Mol Genet (2011) 1.14
Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet (2010) 1.14
Sleep apnea in fragile X premutation carriers with and without FXTAS. Am J Med Genet B Neuropsychiatr Genet (2011) 1.14
Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res (2010) 1.13
Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. Arch Neurol (2008) 1.12
Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet (2009) 1.11
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet (2010) 1.11
Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model. J Neurochem (2012) 1.10
Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion. J Biol Chem (2013) 1.04
Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A (2012) 1.04
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Hum Mol Genet (2014) 1.04
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet (2012) 1.03
Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins. Neurotoxicology (2010) 0.97
Broad clinical involvement in a family affected by the fragile X premutation. J Dev Behav Pediatr (2009) 0.94
Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet (2011) 0.94
Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. J Investig Med (2009) 0.93
Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. J Clin Psychopharmacol (2010) 0.93
MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet (2012) 0.92
Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum Mol Genet (2011) 0.92
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. Hum Mol Genet (2015) 0.92
RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. Brain Res (2012) 0.90
RNA-protein interactions in unstable microsatellite diseases. Brain Res (2014) 0.89
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. J Neurodev Disord (2014) 0.89
Translation of the FMR1 mRNA is not influenced by AGG interruptions. Nucleic Acids Res (2009) 0.87
RNA-mediated pathogenesis in fragile X-associated disorders. Neurosci Lett (2009) 0.87
Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment. Tremor Other Hyperkinet Mov (N Y) (2012) 0.86
Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila. Hum Mol Genet (2012) 0.86
Epigenetics in nucleotide repeat expansion disorders. Semin Neurol (2012) 0.85
Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol (2012) 0.84
Impact of nuclear organization and dynamics on epigenetic regulation in the central nervous system: implications for neurological disease states. Ann N Y Acad Sci (2010) 0.82
CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome. Hum Mol Genet (2014) 0.81
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. J Neurodev Disord (2014) 0.80
Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications. Mol Genet Genomics (2016) 0.80
Role of noncoding RNAs in trinucleotide repeat neurodegenerative disorders. Exp Neurol (2012) 0.79
RNA Structures as Mediators of Neurological Diseases and as Drug Targets. Neuron (2015) 0.79
FXTAS: a bad RNA and a hope for a cure. Expert Opin Biol Ther (2008) 0.77
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population. Neurol Sci (2015) 0.75
Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans. Hum Mol Genet (2014) 0.75
Mechanism of repeat-associated microRNAs in fragile X syndrome. Neural Plast (2012) 0.75
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. Neuron (2017) 0.75
The role of RNA metabolism in neurological diseases. Balkan J Med Genet (2016) 0.75
Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females. Transl Psychiatry (2016) 0.75
Warburg effect linked to cognitive-executive deficits in FMR1 premutation. FASEB J (2016) 0.75
Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics. Front Cell Neurosci (2017) 0.75
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet (2003) 5.51
Regulatory networks define phenotypic classes of human stem cell lines. Nature (2008) 4.98
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn (2007) 3.80
Human neural stem cell growth and differentiation in a gradient-generating microfluidic device. Lab Chip (2005) 3.33
Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Epidemiology (2011) 3.15
Neural stem/progenitors and glioma stem-like cells have differential sensitivity to chemotherapy. Neurology (2011) 3.14
DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy. Hum Mol Genet (2010) 3.00
Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol (2004) 2.90
The Parkinson disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation. J Biol Chem (2008) 2.77
RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways. Proc Natl Acad Sci U S A (2008) 2.76
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr (2006) 2.73
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet (2003) 2.73
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord (2007) 2.68
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol (2002) 2.58
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
The R1441C mutation of LRRK2 disrupts GTP hydrolysis. Biochem Biophys Res Commun (2007) 2.42
Structure of the ROC domain from the Parkinson's disease-associated leucine-rich repeat kinase 2 reveals a dimeric GTPase. Proc Natl Acad Sci U S A (2008) 2.36
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet (2005) 2.35
Autism profiles of males with fragile X syndrome. Am J Ment Retard (2008) 2.35
Regulation of human neural precursor cells by laminin and integrins. J Neurosci Res (2006) 2.30
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet (2007) 2.25
Mitochondrial alterations in PINK1 deficient cells are influenced by calcineurin-dependent dephosphorylation of dynamin-related protein 1. PLoS One (2009) 2.23
The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev (2002) 2.15
Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. Am J Clin Nutr (2012) 2.14
Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex (2007) 2.10
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA (2002) 2.06
Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res (2012) 2.04
Mitochondrial dysfunction in autism. JAMA (2010) 2.04
The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr (2007) 2.02
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol (2007) 2.00
A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95
Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn (2009) 1.94
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn (2005) 1.91
Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA (2007) 1.87
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem (2010) 1.86
Advances in understanding the molecular basis of FXTAS. Hum Mol Genet (2010) 1.83
The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Mol Genet (2003) 1.82
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry (2006) 1.80
Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord (2007) 1.77
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology (2008) 1.75
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75
Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1. J Neurochem (2007) 1.70
The Parkinson's disease kinase LRRK2 autophosphorylates its GTPase domain at multiple sites. Biochem Biophys Res Commun (2009) 1.67
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet (2007) 1.66
Testing for fragile X gene mutations throughout the life span. JAMA (2008) 1.65
Paternal transmission of fragile X syndrome. Am J Med Genet A (2004) 1.62
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry (2011) 1.59
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev (2006) 1.58
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn (2010) 1.58
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J (2010) 1.58
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging (2008) 1.57
Neuropathic features in fragile X premutation carriers. Am J Med Genet A (2007) 1.56
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep (2013) 1.56
Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet (2006) 1.54
Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr (2004) 1.47
Amygdala dysfunction in men with the fragile X premutation. Brain (2006) 1.46
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet (2004) 1.44
Recent advances in fragile X: a model for autism and neurodegeneration. Curr Opin Psychiatry (2005) 1.44
The fragile X premutation presenting as essential tremor. Arch Neurol (2003) 1.43
Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene. Arch Neurol (2008) 1.42
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet (2006) 1.42
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest (2012) 1.42
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol (2011) 1.39
The Parkinson's disease associated LRRK2 exhibits weaker in vitro phosphorylation of 4E-BP compared to autophosphorylation. PLoS One (2010) 1.39
Human cytomegalovirus infection causes premature and abnormal differentiation of human neural progenitor cells. J Virol (2010) 1.38
A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia (2004) 1.38
Oxygen tension controls the expansion of human CNS precursors and the generation of astrocytes and oligodendrocytes. Mol Cell Neurosci (2007) 1.38