Published in J Mol Diagn on May 21, 2009
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry (2011) 1.59
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet (2011) 1.30
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. Hum Mol Genet (2010) 1.24
Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet (2009) 1.20
Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet (2012) 1.15
Fragile X-associated disorders: a clinical overview. J Neurol (2011) 1.13
Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments. Brain Cogn (2011) 1.12
Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model. J Neurochem (2012) 1.10
The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl) (2013) 1.05
Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion. J Biol Chem (2013) 1.04
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Hum Mol Genet (2014) 1.04
A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. J Mol Diagn (2010) 1.01
Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders. J Neuropathol Exp Neurol (2011) 1.00
The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge. Clin Biochem Rev (2011) 0.91
Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation. Epilepsia (2012) 0.89
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet (2013) 0.89
Resolution of spatial and temporal visual attention in infants with fragile X syndrome. Brain (2011) 0.89
Modeling fragile X syndrome in the Fmr1 knockout mouse. Intractable Rare Dis Res (2014) 0.88
Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation. Am J Med Genet A (2011) 0.86
A quantitative homogeneous assay for fragile X mental retardation 1 protein. J Neurodev Disord (2013) 0.85
Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles. Neuroimage (2012) 0.85
Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encoding. Front Hum Neurosci (2012) 0.80
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male. Am J Med Genet A (2012) 0.78
Investigation of amygdala volume in men with the fragile X premutation. Brain Imaging Behav (2011) 0.77
Association between macroorchidism and intelligence in FMR1 premutation carriers. Am J Med Genet A (2014) 0.76
Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP). Genes (Basel) (2016) 0.75
You can build it ... but will they come?: the potential "expansion" of testing methodologies for fragile X syndrome. J Mol Diagn (2009) 0.75
Recent advances in assays for the fragile X-related disorders. Hum Genet (2017) 0.75
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet (1993) 4.57
The FMR1 premutation and reproduction. Fertil Steril (2006) 3.85
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet (2001) 3.82
Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod (2004) 3.01
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr (2006) 2.73
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord (2007) 2.68
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
Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet (2000) 2.24
FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet (1999) 2.23
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Phenotypic variation and FMRP levels in fragile X. Ment Retard Dev Disabil Res Rev (2004) 2.07
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA (2002) 2.06
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Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet (1995) 1.91
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Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression. Proc Natl Acad Sci U S A (2004) 1.55
Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr (2004) 1.47
Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression. Hum Brain Mapp (2002) 1.46
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Noninvasive test for fragile X syndrome, using hair root analysis. Am J Hum Genet (1999) 0.95
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FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics. J Med Genet (2003) 0.82
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88
The fragile-X premutation: a maturing perspective. Am J Hum Genet (2004) 3.89
The FMR1 premutation and reproduction. Fertil Steril (2006) 3.85
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
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46
Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Epidemiology (2011) 3.15
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
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
Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med (2012) 2.51
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
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
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
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet (2005) 2.17
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
Phenotypic variation and FMRP levels in fragile X. Ment Retard Dev Disabil Res Rev (2004) 2.07
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
Evidence of increased inflammation and microcirculatory abnormalities in patients with type 1 diabetes and their role in microvascular complications. Diabetes (2007) 1.84
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
Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry (2010) 1.79
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
Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev (2004) 1.68
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
Aspirin plus dipyridamole versus aspirin for prevention of vascular events after stroke or TIA: a meta-analysis. Stroke (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
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J (2010) 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
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