Neuropathic features in fragile X premutation carriers.

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

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

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

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

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

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

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

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

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2011) 1.23

FMR1 CGG expansions: prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet (2013) 1.19

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

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

Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet (2009) 1.11

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

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

Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene. Mov Disord (2011) 1.03

Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism. Am J Med Genet B Neuropsychiatr Genet (2012) 0.96

Tremor in 48,XXYY syndrome. Mov Disord (2009) 0.95

Associated features in females with an FMR1 premutation. J Neurodev Disord (2014) 0.94

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

Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation. Epilepsia (2012) 0.89

Translation of the FMR1 mRNA is not influenced by AGG interruptions. Nucleic Acids Res (2009) 0.87

Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS). Int J Geriatr Psychiatry (2009) 0.85

Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol (2012) 0.84

Biomarkers in the Study of Families of Individuals with Developmental Disabilities. Int Rev Res Ment Retard (2009) 0.82

In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions? Tremor Other Hyperkinet Mov (N Y) (2014) 0.81

Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet (2015) 0.80

Olfactory dysfunction in fragile X tremor ataxia syndrome. Mov Disord (2012) 0.80

Fragile X mental retardation protein (FMRP) and the spinal sensory system. Results Probl Cell Differ (2012) 0.77

Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. Nat Rev Neurol (2016) 0.77

Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. Neuropsychology (2014) 0.77

Developmental profiles of infants with an FMR1 premutation. J Neurodev Disord (2016) 0.77

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. Front Genet (2014) 0.76

Immune mediated disorders in women with a fragile X expansion and FXTAS. Am J Med Genet A (2014) 0.76

Self-injurious behaviour in intellectual disability syndromes: evidence for aberrant pain signalling as a contributing factor. J Intellect Disabil Res (2011) 0.76

The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology. Clin Neuropsychol (2016) 0.75

Late Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria. Noro Psikiyatr Ars (2016) 0.75

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome. Case Rep Genet (2011) 0.75

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families. Pediatrics (2017) 0.75

Specific recruitment of regulatory T cells in ovarian carcinoma fosters immune privilege and predicts reduced survival. Nat Med (2004) 22.96

Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08

Genomewide association study of leprosy. N Engl J Med (2009) 8.17

The microRNAs miR-373 and miR-520c promote tumour invasion and metastasis. Nat Cell Biol (2008) 7.86

A high-affinity conformation of Hsp90 confers tumour selectivity on Hsp90 inhibitors. Nature (2003) 7.69

Targeted gene knockout in mammalian cells by using engineered zinc-finger nucleases. Proc Natl Acad Sci U S A (2008) 6.59

A double-blind controlled trial of bilateral fetal nigral transplantation in Parkinson's disease. Ann Neurol (2003) 6.21

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

Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord (2003) 4.56

PUMA mediates the apoptotic response to p53 in colorectal cancer cells. Proc Natl Acad Sci U S A (2003) 4.46

AAV2-GAD gene therapy for advanced Parkinson's disease: a double-blind, sham-surgery controlled, randomised trial. Lancet Neurol (2011) 4.23

Tumour hypoxia promotes tolerance and angiogenesis via CCL28 and T(reg) cells. Nature (2011) 4.07

miR-210 links hypoxia with cell cycle regulation and is deleted in human epithelial ovarian cancer. Cancer Biol Ther (2007) 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

Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet (2009) 3.59

Tumor-infiltrating dendritic cell precursors recruited by a beta-defensin contribute to vasculogenesis under the influence of Vegf-A. Nat Med (2004) 3.55

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

The TLR4 gene polymorphisms and susceptibility to cancer: a systematic review and meta-analysis. Eur J Cancer (2012) 3.41

Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39

Distinct expression levels and patterns of stem cell marker, aldehyde dehydrogenase isoform 1 (ALDH1), in human epithelial cancers. PLoS One (2010) 3.38

Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. Circ Res (2005) 3.34

RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR). Proc Natl Acad Sci U S A (2004) 3.25

Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Epidemiology (2011) 3.15

Advances in the treatment of fragile X syndrome. Pediatrics (2009) 3.10

Expanding window compressed sensing for non-uniform compressible signals. Sensors (Basel) (2012) 2.98

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

Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet (2002) 2.90

FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol (2004) 2.90

Missing pieces in the Parkinson's disease puzzle. Nat Med (2010) 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

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord (2007) 2.68

PUMA regulates intestinal progenitor cell radiosensitivity and gastrointestinal syndrome. Cell Stem Cell (2008) 2.68

Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death. Circ Res (2002) 2.64

Age-associated decrease in TLR function in primary human dendritic cells predicts influenza vaccine response. J Immunol (2010) 2.63

Depression rating scales in Parkinson's disease: critique and recommendations. Mov Disord (2007) 2.62

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

MicroRNA microarray identifies Let-7i as a novel biomarker and therapeutic target in human epithelial ovarian cancer. Cancer Res (2008) 2.35

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

microRNA-21 negatively regulates Cdc25A and cell cycle progression in colon cancer cells. Cancer Res (2009) 2.32

Mechanisms of microRNA deregulation in human cancer. Cell Cycle (2008) 2.30

Model-Free Feature Screening for Ultrahigh Dimensional Data. J Am Stat Assoc (2012) 2.30

Apathy and anhedonia rating scales in Parkinson's disease: critique and recommendations. Mov Disord (2008) 2.28

The transcriptional targets of p53 in apoptosis control. Biochem Biophys Res Commun (2005) 2.25

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

A homochiral porous metal-organic framework for highly enantioselective heterogeneous asymmetric catalysis. J Am Chem Soc (2005) 2.24

Generation of a triple-gene knockout mammalian cell line using engineered zinc-finger nucleases. Biotechnol Bioeng (2010) 2.23

ADAMTS-1 and ADAMTS-4 levels are elevated in thoracic aortic aneurysms and dissections. Ann Thorac Surg (2012) 2.18

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

Functional coupling of p38-induced up-regulation of BiP and activation of RNA-dependent protein kinase-like endoplasmic reticulum kinase to drug resistance of dormant carcinoma cells. Cancer Res (2006) 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

FSIM: a feature similarity index for image quality assessment. IEEE Trans Image Process (2011) 2.13

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

HISTONE DEACETYLASE19 is involved in jasmonic acid and ethylene signaling of pathogen response in Arabidopsis. Plant Cell (2005) 2.06

The Movement Disorder Society Evidence-Based Medicine Review Update: Treatments for the non-motor symptoms of Parkinson's disease. Mov Disord (2011) 2.05

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res (2012) 2.04