Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.

The fragile-X premutation: a maturing perspective. Am J Hum Genet (2004) 3.89

Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91

Fragile X syndrome: diagnostic and carrier testing. Genet Med (2005) 2.45

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol (2013) 2.41

Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet (2010) 2.36

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet (2004) 2.33

A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98

Decreased nociceptive sensitization in mice lacking the fragile X mental retardation protein: role of mGluR1/5 and mTOR. J Neurosci (2007) 1.95

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95

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

Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates. Ann N Y Acad Sci (2008) 1.85

Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet (2004) 1.85

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med (2012) 1.85

Advances in understanding the molecular basis of FXTAS. Hum Mol Genet (2010) 1.83

Fragile X syndrome. Eur J Hum Genet (2008) 1.81

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology (2007) 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

Selective executive markers of at-risk profiles associated with the fragile X premutation. Neurology (2011) 1.75

CGG repeat in the FMR1 gene: size matters. Clin Genet (2011) 1.68

Aging in individuals with the FMR1 mutation. Am J Ment Retard (2004) 1.68

Microsatellite repeat instability and neurological disease. Bioessays (2009) 1.60

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem (2008) 1.59

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J (2010) 1.58

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging (2008) 1.57

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments. Mol Autism (2010) 1.57

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

Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54

Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet (2006) 1.54

Emerging topics in FXTAS. J Neurodev Disord (2014) 1.47

Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav (2012) 1.44

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol (2013) 1.41

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

Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum Mol Genet (2010) 1.37

Co-occurring diagnoses among FMR1 premutation allele carriers. Clin Genet (2010) 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

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

Fragile X: a family of disorders. Adv Pediatr (2009) 1.30

Lifespan changes in working memory in fragile X premutation males. Brain Cogn (2008) 1.29

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

No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 1.29

Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med (2009) 1.27

The unstable repeats--three evolving faces of neurological disease. Neuron (2013) 1.26

Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry (2007) 1.26

Repeat-associated non-ATG (RAN) translation in neurological disease. Hum Mol Genet (2013) 1.20

Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17

Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol (2008) 1.16

FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers. J Neurol (2004) 1.15

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

Sleep apnea in fragile X premutation carriers with and without FXTAS. Am J Med Genet B Neuropsychiatr Genet (2011) 1.14

Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res (2010) 1.13

Fragile X-associated disorders: a clinical overview. J Neurol (2011) 1.13

RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res (2012) 1.11

Consensus characterization of 16 FMR1 reference materials: a consortium study. J Mol Diagn (2007) 1.09

A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Brain (2011) 1.09

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet (2009) 1.08

Carrier screening in preconception consultation in primary care. J Community Genet (2011) 1.07

Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord (2011) 1.07

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genet Med (2011) 1.06

Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome. Nucleic Acids Res (2011) 1.06

New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS). Neurogenetics (2011) 1.06

Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles. J Mol Diagn (2008) 1.05

Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA (2007) 1.04

Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A (2012) 1.04

Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med (2009) 1.04

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet (2010) 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

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Hum Mol Genet (2014) 1.04

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

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. J Mol Diagn (2010) 1.01

Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A (2012) 1.00

Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanning. J Mol Biol (2011) 0.99

Fragile X-associated tremor/ataxia syndrome. Ann N Y Acad Sci (2015) 0.98

Age-dependent structural connectivity effects in fragile x premutation. Arch Neurol (2012) 0.97

The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One (2011) 0.97

Channelopathy pathogenesis in autism spectrum disorders. Front Genet (2013) 0.97

Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet (2012) 0.97

Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts. Neuropsychology (2012) 0.96

FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord (2011) 0.95

Broad clinical involvement in a family affected by the fragile X premutation. J Dev Behav Pediatr (2009) 0.94

Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. J Clin Psychopharmacol (2010) 0.93

Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. J Investig Med (2009) 0.93

Prevalence and risk of migraine headaches in adult fragile X premutation carriers. Clin Genet (2013) 0.93

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. Hum Mol Genet (2015) 0.92

Newborn screening and cascade testing for FMR1 mutations. Am J Med Genet A (2012) 0.91

Argonaute2 suppresses Drosophila fragile X expression preventing neurogenesis and oogenesis defects. PLoS One (2009) 0.91

Fragile X spectrum disorders. Intractable Rare Dis Res (2014) 0.91

Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery. J Med Genet (2008) 0.91

The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases. Front Neurosci (2014) 0.91

Epigenetic changes and non-coding expanded repeats. Neurobiol Dis (2010) 0.91

Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. Brain (2010) 0.90

Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene. Am J Med Genet A (2008) 0.90

Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. Cereb Cortex (2012) 0.90

FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet (2013) 0.89

Past, present and future therapeutics for cerebellar ataxias. Curr Neuropharmacol (2010) 0.88

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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

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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

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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

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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

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Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43

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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

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