Published in Ann Neurol on August 01, 2005
Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology (2007) 1.80
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
Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet (2006) 1.54
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 FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet (2009) 1.37
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet (2008) 1.32
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med (2009) 1.27
Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation. Brain Imaging Behav (2008) 1.14
Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet (2010) 1.14
Fragile X-associated disorders: a clinical overview. J Neurol (2011) 1.13
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet (2009) 1.08
Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A (2012) 1.00
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery. J Med Genet (2008) 0.91
Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol (2012) 0.84
Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles. JAMA Neurol (2013) 0.81
Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. Neuropsychology (2014) 0.77
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
Prediction of seizure likelihood with a long-term, implanted seizure advisory system in patients with drug-resistant epilepsy: a first-in-man study. Lancet Neurol (2013) 3.22
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
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
Azacitidine augments expansion of regulatory T cells after allogeneic stem cell transplantation in patients with acute myeloid leukemia (AML). Blood (2012) 2.39
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
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
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
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
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
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
Paternal transmission of fragile X syndrome. Am J Med Genet A (2004) 1.62
Immunoglobulin free light chain levels and recovery from myeloma kidney on treatment with chemotherapy and high cut-off haemodialysis. Nephrol Dial Transplant (2012) 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
Early reduction of serum-free light chains associates with renal recovery in myeloma kidney. J Am Soc Nephrol (2011) 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
Efficient removal of immunoglobulin free light chains by hemodialysis for multiple myeloma: in vitro and in vivo studies. J Am Soc Nephrol (2007) 1.54
Critical relationship between sodium valproate dose and human teratogenicity: results of the Australian register of anti-epileptic drugs in pregnancy. J Clin Neurosci (2004) 1.51
A chain multinomial model for estimating the real-time fatality rate of a disease, with an application to severe acute respiratory syndrome. Am J Epidemiol (2005) 1.49
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
The fragile X premutation presenting as essential tremor. Arch Neurol (2003) 1.43
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest (2012) 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
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
A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia (2004) 1.38
Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiol Dis (2005) 1.34
A quantitative ELISA assay for the fragile x mental retardation 1 protein. J Mol Diagn (2009) 1.33
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet (2010) 1.31
Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. Am J Med Genet A (2010) 1.31
A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome. J Neurodev Disord (2009) 1.31
Treatment of acute renal failure secondary to multiple myeloma with chemotherapy and extended high cut-off hemodialysis. Clin J Am Soc Nephrol (2009) 1.30
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet (2011) 1.30
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
A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr (2013) 1.29
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Mov Disord (2007) 1.28
Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn (2009) 1.28
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry (2007) 1.26
Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X. Neuropsychology (2003) 1.25
Global increases in both common and rare copy number load associated with autism. Hum Mol Genet (2013) 1.24
EEG source localization in focal epilepsy: where are we now? Epilepsia (2007) 1.22
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. Am J Med Genet A (2008) 1.20
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A (2013) 1.19
Factors predicting long-term survival after T-cell depleted reduced intensity allogeneic stem cell transplantation for acute myeloid leukemia. Haematologica (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
Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation. Brain Imaging Behav (2008) 1.14
Sleep apnea in fragile X premutation carriers with and without FXTAS. Am J Med Genet B Neuropsychiatr Genet (2011) 1.14
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A (2007) 1.13
Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. Arch Neurol (2008) 1.12
Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments. Brain Cogn (2011) 1.12
Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet (2009) 1.11
Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model. J Neurochem (2012) 1.10
Fragile x syndrome. Curr Genomics (2011) 1.09
Cerebral cortex: an MRI-based study of volume and variance with age and sex. J Clin Neurosci (2006) 1.09
Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data. Biometrics (2009) 1.09
A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Brain (2011) 1.09
Screen for excess FMR1 premutation alleles among males with parkinsonism. Arch Neurol (2007) 1.08
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
High MMP-9 activity levels in fragile X syndrome are lowered by minocycline. Am J Med Genet A (2013) 1.08
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord (2011) 1.07
Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task. Front Hum Neurosci (2011) 1.06
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain (2004) 1.06
Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis. J Dev Behav Pediatr (2002) 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
An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). J Psychiatr Res (2010) 1.04
Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A (2012) 1.04
Plasma cytokine profiles in Fragile X subjects: is there a role for cytokines in the pathogenesis? Brain Behav Immun (2010) 1.03
Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder. J Autism Dev Disord (2007) 1.03
Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene. Mov Disord (2011) 1.03
Fibromyalgia in fragile X mental retardation 1 gene premutation carriers. Rheumatology (Oxford) (2011) 1.02