Published in Mov Disord on April 11, 2011
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A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers. Mov Disord (2013) 0.81
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Altered structural brain connectome in young adult fragile X premutation carriers. Hum Brain Mapp (2014) 0.76
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Looking into the functional architecture of the brain with diffusion MRI. Nat Rev Neurosci (2003) 6.45
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Tract probability maps in stereotaxic spaces: analyses of white matter anatomy and tract-specific quantification. Neuroimage (2007) 5.23
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
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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
Axial diffusivity is the primary correlate of axonal injury in the experimental autoimmune encephalomyelitis spinal cord: a quantitative pixelwise analysis. J Neurosci (2009) 2.75
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
Mood and anxiety disorders in females with the FMR1 premutation. Am J Med Genet B Neuropsychiatr Genet (2009) 2.37
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
Diffusion tensor imaging in children and adolescents: reproducibility, hemispheric, and age-related differences. Neuroimage (2006) 2.21
Diffusion tensor tractography of the limbic system. AJNR Am J Neuroradiol (2005) 2.10
Voxel based versus region of interest analysis in diffusion tensor imaging of neurodevelopment. Neuroimage (2006) 2.07
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Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology (2007) 1.77
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet (2004) 1.77
Neuropathic features in fragile X premutation carriers. Am J Med Genet A (2007) 1.56
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology (2006) 1.55
Altered cerebellar feedback projections in Asperger syndrome. Neuroimage (2008) 1.42
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The anatomy of extended limbic pathways in Asperger syndrome: a preliminary diffusion tensor imaging tractography study. Neuroimage (2009) 1.23
Utility of axial and radial diffusivity from diffusion tensor MRI as markers of neurodegeneration in amyotrophic lateral sclerosis. Brain Res (2010) 1.22
Topography of cortical and subcortical connections of the human pedunculopontine and subthalamic nuclei. Neuroimage (2007) 1.19
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain (2004) 1.06
Diffusion tensor imaging (DTI) and tractography of the cerebellar projections to prefrontal and posterior parietal cortices: a study at 3T. J Neuroradiol (2008) 0.93
Diffusivity and diffusion anisotropy of cerebellar peduncles in cases of spinocerebellar degenerative disease. Neuroimage (2007) 0.92
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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
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
A randomized, double-blind, controlled trial comparing rifaximin plus lactulose with lactulose alone in treatment of overt hepatic encephalopathy. Am J Gastroenterol (2013) 3.19
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
Clinical, endoscopic, and histological differentiations between Crohn's disease and intestinal tuberculosis. Am J Gastroenterol (2010) 2.70
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
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
Cortical folding abnormalities in autism revealed by surface-based morphometry. J Neurosci (2007) 1.86
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
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
Do modern techniques improve core decompression outcomes for hip osteonecrosis? Clin Orthop Relat Res (2008) 1.63
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
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
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
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
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
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol (2007) 1.37
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36
Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study. Am J Med Genet B Neuropsychiatr Genet (2008) 1.34
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
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet (2008) 1.32
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet (2010) 1.31
The neuroanatomy and neuroendocrinology of fragile X syndrome. Ment Retard Dev Disabil Res Rev (2004) 1.31
Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics (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
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet (2011) 1.30