(Q50277634)

28 February 2018

title

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. (English)

1 reference

28 February 2018

fragile X-associated tremor/ataxia syndrome

main subject

0 references

1 reference

Sebastien Jacquemont

1

1 reference

28 February 2018

Randi J Hagerman

series ordinal

2

1 reference

28 February 2018

Paul J Hagerman

series ordinal

3

1 reference

28 February 2018

Maureen A Leehey

series ordinal

4

1 reference

28 February 2018

publication date

1 January 2007

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28 February 2018

published in

Lancet Neurology

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28 February 2018

volume

6

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28 February 2018

issue

1

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28 February 2018

page(s)

45-55

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28 February 2018

Phenotypic variation and FMRP levels in fragile X.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Association of FMR1 repeat size with ovarian dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Fragile X syndrome without CCG amplification has an FMR1 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

1 reference

7 January 2021

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The neuroanatomy and neuroendocrinology of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Genetic and environmental influences on the cognitive outcomes of children with fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Cardiovascular indices of physiological arousal in boys with fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Here's looking at you, kid: neural systems underlying face and gaze processing in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

1 reference

7 January 2021

Epilepsy and EEG findings in males with fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Correlates across the structural, functional, and molecular phenotypes of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The fragile X syndrome: from molecular genetics to neurobiology

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Evidence that fragile X mental retardation protein is a negative regulator of translation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The Drosophila fragile X mental retardation protein controls actin dynamics by directly regulating profilin in the brain

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Altered synaptic plasticity in a mouse model of fragile X mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The mGluR theory of fragile X mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Psychopharmacology in fragile X syndrome--present and future

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

A controlled trial of stimulant medication in children with the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Fenobam: a clinically validated nonbenzodiazepine anxiolytic is a potent, selective, and noncompetitive mGlu5 receptor antagonist with inverse agonist activity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Enriched environments, experience-dependent plasticity and disorders of the nervous system.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The emerging fragile X premutation phenotype: evidence from the domain of social cognition.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Size bias of fragile X premutation alleles in late-onset movement disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Screening for fragile X syndrome in women of reproductive age

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Premature ovarian failure and fragile X premutation: a study on 45 women

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Fragile X premutation in women with sporadic premature ovarian failure in Slovenia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Studies of FRAXA and FRAXE in women with premature ovarian failure

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Evidence of early ovarian aging in fragile X premutation carriers

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Aging in individuals with the FMR1 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The fragile-X premutation: a maturing perspective

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

RNA-mediated neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Protein composition of the intranuclear inclusions of FXTAS.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Clinical features of boys with fragile X premutations and intermediate alleles.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Autistic spectrum disorder and the fragile X premutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Clinical involvement and protein expression in individuals with the FMR1 premutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

A neuropsychological investigation of male premutation carriers of fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Behavioral and psychiatric disorders in adult male carriers of fragile X.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

FRAXA and FRAXE: the results of a five year survey

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The FMR1 and FMR2 mutations are not common etiologies of academic difficulty among school-age children

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

The intermediate alleles of the fragile X CGG repeat in patients with mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

An investigation of FRAXA intermediate allele phenotype in a longitudinal sample.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Newborn screening for fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Cost-effectiveness analysis of prenatal population-based fragile X carrier screening

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

Fragile X syndrome carrier screening in the prenatal genetic counseling setting.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970676-7

7 January 2021

10.1016/S1474-4422(06)70676-7

Identifiers

DOI

1 reference

28 February 2018

PubMed ID

17166801

1 reference

28 February 2018