Fragile X and autism: Intertwined at the molecular level leading to targeted treatments (Q34198650)

31 July 2017

title

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments (English)

1 reference

31 July 2017

0 references

Randi Hagerman

1

1 reference

31 July 2017

Gry Hoem

series ordinal

2

1 reference

31 July 2017

Paul Hagerman

series ordinal

3

1 reference

31 July 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20858229

17 July 2024

publication date

21 September 2010

1 reference

full work available at URL

31 July 2017

https://molecularautism.biomedcentral.com/counter/pdf/10.1186/2040-2392-1-12

file format

Portable Document Format

online access status

open access

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17 July 2024

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Portable Document Format

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17 July 2024

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17 July 2024

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https://europepmc.org/articles/PMC2954865?pdf=render

17 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20858229

17 July 2024

1 reference

31 July 2017

volume

1

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31 July 2017

issue

1

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31 July 2017

page(s)

12

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Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene

31 July 2017

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Clinical report: a male with Down syndrome, fragile X syndrome, and autism.

5 July 2018

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Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells

5 July 2018

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The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes

5 July 2018

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5 July 2018

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Critical period plasticity is disrupted in the barrel cortex of FMR1 knockout mice.

5 July 2018

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gammaH2AX: a sensitive molecular marker of DNA damage and repair

5 July 2018

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Dysregulation of mTOR signaling in fragile X syndrome

5 July 2018

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Co-occurring diagnoses among FMR1 premutation allele carriers

5 July 2018

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Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies

5 July 2018

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Progressive spatial processing deficits in a mouse model of the fragile X premutation

5 July 2018

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Fragile X: a family of disorders

5 July 2018

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5 July 2018

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Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration

5 July 2018

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RNA-mediated pathogenesis in fragile X-associated disorders

5 July 2018

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5 July 2018

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5 July 2018

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Ectopic expression of CGG containing mRNA is neurotoxic in mammals

5 July 2018

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Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

5 July 2018

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Autism profiles of males with fragile X syndrome

5 July 2018

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A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.

5 July 2018

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Advances in the treatment of fragile X syndrome

5 July 2018

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Lifespan changes in working memory in fragile X premutation males

5 July 2018

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome

5 July 2018

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Mitochondrial disease in autism spectrum disorder patients: a cohort analysis

5 July 2018

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No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50

5 July 2018

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Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function

5 July 2018

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Inactivation of the maternal fragile X gene results in sensitization of GABAB receptor function in the offspring

5 July 2018

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Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome

5 July 2018

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Dominant non-coding repeat expansions in human disease

5 July 2018

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Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis

5 July 2018

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Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

5 July 2018

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Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila

5 July 2018

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Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome

5 July 2018

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Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene.

5 July 2018

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Correction of fragile X syndrome in mice.

5 July 2018

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A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes.

5 July 2018

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Maternal residence near agricultural pesticide applications and autism spectrum disorders among children in the California Central Valley

5 July 2018

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Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP).

5 July 2018

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Myotonic dystrophy: RNA-mediated muscle disease

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Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

5 July 2018

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The GABAA receptor: a novel target for treatment of fragile X?

5 July 2018

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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

5 July 2018

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The pathophysiology of fragile x syndrome.

5 July 2018

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Perinatal exposure to a noncoplanar polychlorinated biphenyl alters tonotopy, receptive fields, and plasticity in rat primary auditory cortex

5 July 2018

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Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model

5 July 2018

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A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

5 July 2018

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Arousal modulation in females with fragile X or Turner syndrome

5 July 2018

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Progress report on new antiepileptic drugs: a summary of the Eigth Eilat Conference (EILAT VIII)

5 July 2018

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Psychological well-being of mothers of youth with fragile X syndrome: syndrome specificity and within-syndrome variability

5 July 2018

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Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

5 July 2018

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The FMR1 premutation and reproduction

5 July 2018

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Fragile X syndrome and autism at the intersection of genetic and neural networks

5 July 2018

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Matrix metalloproteinase-7 disrupts dendritic spines in hippocampal neurons through NMDA receptor activation

5 July 2018

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Therapeutic implications of the mGluR theory of fragile X mental retardation

5 July 2018

1 reference

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FMRP RNA targets: identification and validation

5 July 2018

1 reference

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

5 July 2018

1 reference

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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

5 July 2018

1 reference

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

5 July 2018

1 reference

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Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

5 July 2018

1 reference

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Association of FMR1 repeat size with ovarian dysfunction

5 July 2018

1 reference

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Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

5 July 2018

1 reference

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Pharmacology of endogenous neuroactive steroids.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

The mGluR theory of fragile X mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Phenotypic variation and FMRP levels in fragile X.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Fragile X-associated tremor/ataxia syndrome (FXTAS).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Of mice and the fragile X syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Abnormal development of dendritic spines in FMR1 knock-out mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Dendritic spine structural anomalies in fragile-X mental retardation syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

The 'ABC' of GABA receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

The 'ABC' of GABA receptors: a brief review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Attenuated sensitivity to neuroactive steroids in gamma-aminobutyrate type A receptor delta subunit knockout mice.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

2-Methyl-6-(phenylethynyl)-pyridine (MPEP), a potent, selective and systemically active mGlu5 receptor antagonist

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

FMRP expression as a potential prognostic indicator in fragile X syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Characterization of the anticonvulsant properties of ganaxolone (CCD 1042; 3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one), a selective, high-affinity, steroid modulator of the gamma-aminobutyric acid(A) receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

GABA(B)-mediated presynaptic inhibition of excitatory transmission and synaptic vesicle dynamics in cultured hippocampal neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Learning-disabled males with a fragile X CGG expansion in the upper premutation size range.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Analysis of neocortex in three males with the fragile X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Presynaptic inhibition of miniature excitatory synaptic currents by baclofen and adenosine in the hippocampus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Mapping self-reports of working memory deficits to executive dysfunction in Fragile X Mental Retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

FMR1 premutation in females diagnosed with multiple sclerosis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Evidence of depressive symptoms in fragile-X syndrome premutated females.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Age-dependent cognitive changes in carriers of the fragile X syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Expanded clinical phenotype of women with the FMR1 premutation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

The Prader-Willi phenotype of fragile X syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Early acceleration of head circumference in children with fragile x syndrome and autism.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Decreased expression of the GABAA receptor in fragile X syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Autism spectrum phenotype in males and females with fragile X full mutation and premutation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Protein composition of the intranuclear inclusions of FXTAS.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Prolonged epileptiform discharges induced by altered group I metabotropic glutamate receptor-mediated synaptic responses in hippocampal slices of a fragile X mouse model.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Decreased GABA(A) receptor expression in the seizure-prone fragile X mouse.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Autistic spectrum disorder and the fragile X premutation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Activation of methionine synthase by insulin-like growth factor-1 and dopamine: a target for neurodevelopmental toxins and thimerosal.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Mitochondrial DNA abnormalities and autistic spectrum disorders.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Involvement of cholinergic and gabaergic systems in the fragile X knockout mice

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Epilepsy in fragile X syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Ganaxolone for treating intractable infantile spasms: a multicenter, open-label, add-on trial.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Assessment of ganaxolone's anticonvulsant activity using a randomized, double-blind, presurgical trial design. Ganaxolone Presurgical Study Group.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Early development, temperament, and functional impairment in autism and fragile X syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Transmitting males and carrier females in fragile X--revisited.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954865

Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20858229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Receptor-specific inhibition of GABAB-activated K+ currents by muscarinic and metabotropic glutamate receptors in immature rat hippocampus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20858229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/2040-2392-1-12

1 reference

Dimensions Publication ID

31 July 2017

0 references

1 reference

31 July 2017

1 reference