Published in Cytogenet Genome Res on January 01, 2003
The fragile-X premutation: a maturing perspective. Am J Hum Genet (2004) 3.89
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet (2004) 2.33
Lifespan changes in working memory in fragile X premutation males. Brain Cogn (2008) 1.29
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA (2007) 1.04
Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genet Epidemiol (2008) 0.99
The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance. Behav Genet (2011) 0.96
Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res (2015) 0.75
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
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
Protein composition of the intranuclear inclusions of FXTAS. Brain (2005) 2.95
Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet (2000) 2.46
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet (2004) 2.33
Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am J Med Genet (1991) 2.29
Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet (1999) 2.26
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
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology (2005) 2.04
Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA (1994) 2.01
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet (2000) 1.85
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology (2007) 1.80
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
Aging in individuals with the FMR1 mutation. Am J Ment Retard (2004) 1.68
Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard (1998) 1.58
Prognosis in AZT myopathy. Neurology (1991) 1.50
Sensory modulation dysfunction in children with attention-deficit-hyperactivity disorder. Dev Med Child Neurol (2001) 1.49
A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J Med Genet (2001) 1.44
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav (2012) 1.44
Behavioral and psychiatric disorders in adult male carriers of fragile X. J Am Acad Child Adolesc Psychiatry (1994) 1.42
Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia (1999) 1.42
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Genes Brain Behav (2012) 1.41
Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum Mol Genet (2001) 1.38
An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet (1986) 1.38
Sensory-modulation disruption, electrodermal responses, and functional behaviors. Dev Med Child Neurol (1999) 1.37
Myoblast implantation in Duchenne muscular dystrophy: the San Francisco study. Muscle Nerve (1997) 1.34
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology (2008) 1.31
Molecular-clinical correlations in males with an expanded FMR1 mutation. Am J Med Genet (1996) 1.24
The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity. J Dev Behav Pediatr (1993) 1.23
Profile of cognitive functioning in women with the fragile X mutation. Neuropsychology (2001) 1.20
Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females. Am J Med Genet (1986) 1.17
Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet (2010) 1.14
Neuropsychological dysfunction among affected heterozygous fragile X females. Am J Med Genet (1990) 1.11
Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study. Am J Med Genet (2000) 1.08
Mitral valve prolapse and aortic dilatation in the fragile X syndrome. Am J Med Genet (1984) 1.08
Cognitive profiles of boys with the fragile X syndrome. Am J Med Genet (1988) 1.06
Fragile X syndrome -- from genes to cognition. Dev Disabil Res Rev (2009) 1.06
Elongated styloid process in a temporomandibular disorder sample: prevalence and treatment outcome. J Prosthet Dent (1996) 1.06
Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet A (2003) 1.06
Recurrent otitis media in the fragile X syndrome. Am J Dis Child (1987) 1.05
Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet (2010) 1.04
Contrast detection in infants with fragile X syndrome. Vision Res (2008) 1.04
Speech disturbances (cluttering) in mildly impaired males with the Martin-Bell/fragile X syndrome. Am J Med Genet (1986) 1.03
Motor abilities of children diagnosed with fragile X syndrome with and without autism. J Intellect Disabil Res (2008) 1.01
Fragile X syndrome. J Pediatr (1987) 1.00
Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. Am J Med Genet (1999) 1.00
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med Genet (2005) 0.98
Subacute structural myopathy associated with human immunodeficiency virus infection. Arch Neurol (1988) 0.98
Psychiatric disability in female carriers of the fragile X chromosome. Arch Gen Psychiatry (1988) 0.98
Ganciclovir in the treatment of progressive AIDS-related polyradiculopathy. Neurology (1990) 0.98
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet (2012) 0.97
Consideration of connective tissue dysfunction in the fragile X syndrome. Am J Med Genet (1984) 0.97
Auditory evoked magnetic fields in adults with fragile X syndrome. Neuroreport (2001) 0.96
Symptoms of schizotypal personality disorder in fragile X women. J Am Acad Child Adolesc Psychiatry (1994) 0.95
Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. Am J Med Genet A (2003) 0.94
A controlled study of longitudinal IQ changes in females and males with fragile X syndrome. Am J Med Genet (1996) 0.94
Prevalence of FMR1 repeat expansions in movement disorders. A systematic review. Neuroepidemiology (2006) 0.93
Molecular/clinical correlations in females with fragile X. Am J Med Genet (1996) 0.93
FMR1 premutation in females diagnosed with multiple sclerosis. J Neurol Neurosurg Psychiatry (2009) 0.93
Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation. Am J Med Genet (1999) 0.93
Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry (1995) 0.93
Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism. Am J Med Genet (1995) 0.92
A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome. Am J Dis Child (1993) 0.90
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. Clin Genet (2014) 0.90
Emotional and neurocognitive deficits in fragile X. Am J Med Genet (1994) 0.90
Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Ann Neurol (1992) 0.89
Standards for selected anthropometric measurements in males with the fragile X syndrome. Pediatrics (1992) 0.89
Dysfunctional patients with temporomandibular disorders: evaluating the efficacy of a tailored treatment protocol. J Consult Clin Psychol (1996) 0.89
Aortic root dilatation and mitral valve prolapse in the fragile X syndrome. Am J Med Genet (1986) 0.88
Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective. Am J Med Genet A (2003) 0.88
Autism and the fragile X syndrome. J Dev Behav Pediatr (1983) 0.87
Discourse processing in women with fragile x syndrome: evidence for a deficit establishing coherence. Cogn Neuropsychol (2001) 0.87
Cycloleucine encephalopathy. Neuropathol Appl Neurobiol (1981) 0.87
Oral folic acid versus placebo in the treatment of males with the fragile X syndrome. Am J Med Genet (1986) 0.87
Cognitive profiles of the carrier fragile X woman. Am J Med Genet (1991) 0.86
Autism in fragile X females. Am J Med Genet (1986) 0.85
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis (1996) 0.85
Orthopaedic aspects of fragile-X syndrome. J Bone Joint Surg Am (1990) 0.84
White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism. Am J Med Genet B Neuropsychiatr Genet (2011) 0.83
The fragile X syndrome: history, diagnosis, and treatment. J Dev Behav Pediatr (1983) 0.83
Specific frontal lobe deficits among women with the fragile X gene. J Am Acad Child Adolesc Psychiatry (1992) 0.83
A putative 5 alpha-reductase inhibitor demasculinizes portions of the zebra finch song system. Brain Res (1997) 0.83
Autism, mental retardation, and chromosomal abnormalities. J Autism Dev Disord (1986) 0.83
Oral findings in fragile X syndrome. Am J Med Genet (1986) 0.82
Social cognition skills among females with fragile X. J Autism Dev Disord (1994) 0.81
Developmental implications of changing trajectories of IQ in males with fragile X syndrome. J Am Acad Child Adolesc Psychiatry (1990) 0.81
Problem solving limitations among cytogenetically expressing fragile X women. Am J Med Genet (1992) 0.80
Cognitive variability in the fragile X syndrome. Am J Med Genet (1987) 0.80
Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation. Clin Genet (2014) 0.79
Fragile X syndrome and failure to thrive. Am J Dis Child (1993) 0.78
Expanding the role of the genetic counselor. Am J Med Genet (1996) 0.78
Mental impairment in cytogenetically positive fragile X females. Am J Med Genet (1991) 0.78
The fragile X syndrome. Dev Med Child Neurol (1992) 0.78