Published in J Neuropathol Exp Neurol on June 01, 2011
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol (2013) 2.41
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol (2013) 1.41
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Genes Brain Behav (2012) 1.41
Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet (2012) 1.15
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord (2011) 1.07
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Hum Mol Genet (2014) 1.04
Current Gaps in Understanding the Molecular Basis of FXTAS. Tremor Other Hyperkinet Mov (N Y) (2012) 0.99
Fragile X-associated tremor/ataxia syndrome. Ann N Y Acad Sci (2015) 0.98
CGG trinucleotide repeat length modulates neural plasticity and spatiotemporal processing in a mouse model of the fragile X premutation. Hippocampus (2012) 0.95
Fragile X spectrum disorders. Intractable Rare Dis Res (2014) 0.91
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet (2013) 0.89
Intranuclear inclusions in a fragile X mosaic male. Transl Neurodegener (2013) 0.85
Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions. J Hum Genet (2013) 0.84
Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol (2012) 0.84
Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers. Brain Disord Ther (2014) 0.81
Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation. Brain Res (2012) 0.80
Reduced activity-dependent protein levels in a mouse model of the fragile X premutation. Neurobiol Learn Mem (2014) 0.77
Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field. F1000Res (2013) 0.76
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Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell (1991) 12.27
Absence of expression of the FMR-1 gene in fragile X syndrome. Cell (1991) 7.04
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet (2000) 6.73
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain (2002) 4.05
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain (2005) 3.99
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
Protein composition of the intranuclear inclusions of FXTAS. Brain (2005) 2.95
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
Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet (2000) 2.46
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
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet (2009) 2.16
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene (2007) 2.01
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
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
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet (2000) 1.85
Advances in understanding the molecular basis of FXTAS. Hum Mol Genet (2010) 1.83
Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry (2010) 1.79
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet (2004) 1.77
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet (1993) 1.71
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem (2008) 1.59
A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J Med Genet (2001) 1.44
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis (2005) 1.34
A quantitative ELISA assay for the fragile x mental retardation 1 protein. J Mol Diagn (2009) 1.33
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Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry (2007) 1.26
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Expression of the FMR1 gene. Cytogenet Genome Res (2003) 1.14
Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. Arch Neurol (2008) 1.12
Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine. J Neuropsychiatry Clin Neurosci (2006) 1.08
Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet (2010) 1.04
Broad clinical involvement in a family affected by the fragile X premutation. J Dev Behav Pediatr (2009) 0.94
FMR1 premutation in females diagnosed with multiple sclerosis. J Neurol Neurosurg Psychiatry (2009) 0.93
Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome. Hum Genet (2010) 0.92
Screening for FXTAS in 95 Spanish patients negative for Huntington disease. Genet Test (2008) 0.91
FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening. Mol Neurobiol (2007) 0.81
Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C). Nat Genet (2006) 11.02
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet (2003) 5.51
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
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
Exosome-mediated transmission of hepatitis C virus between human hepatoma Huh7.5 cells. Proc Natl Acad Sci U S A (2013) 2.99
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
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
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
Proteomic analysis of exosomes isolated from human malignant pleural effusions. Am J Respir Cell Mol Biol (2004) 2.44
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
Paraneoplastic limbic encephalitis in a teenage girl with an immature ovarian teratoma. Pediatr Radiol (2005) 2.34
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
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
Clinical features of boys with fragile X premutations and intermediate alleles. Am J Med Genet B Neuropsychiatr Genet (2003) 1.90
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
Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry (2010) 1.79
FMR1: a gene with three faces. Biochim Biophys Acta (2009) 1.77
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 SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet (2012) 1.71
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
Paternal transmission of fragile X syndrome. Am J Med Genet A (2004) 1.62