Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome (Q34055453)

30 July 2017

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome (English)

1 reference

fragile X-associated tremor/ataxia syndrome

30 July 2017

0 references

author

Ronald Buijsen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Frank Kooy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Renate K Hukema

12

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Robert F Berman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Karen Usdin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Elizabeth Pintado

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Dalyir Pretto

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Isaac N Pessah

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

David L Nelson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Zachary Zalewski

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nicholas Charlet-Bergeurand

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rob Willemsen

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

30 July 2014

1 reference

Journal of Neurodevelopmental Disorders

30 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

25

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 2.0 Generic

4 June 2020

copyright license

start time

30 July 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1866-1955-6-25

0 references

cites work

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.

1 reference

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Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated 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=4135345

The FMRP regulon: from targets to disease convergence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Altered neural activity of magnitude estimation processing in adults with the fragile X premutation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Developmental changes in expression of inhibitory neuronal proteins in the Fragile X Syndrome mouse basolateral amygdala

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated 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=4135345

Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

CGG repeat-associated translation mediates neurodegeneration in fragile X 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=4135345

Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

FMR1 transcript isoforms: association with polyribosomes; regional and developmental expression in mouse brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated 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=4135345

Lamin A/C depletion enhances DNA damage-induced stalled replication fork arrest

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation 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=4135345

Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Somatic expansion in mouse and human carriers of fragile X premutation alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

CGG trinucleotide repeat length modulates neural plasticity and spatiotemporal processing in a mouse model of the fragile X premutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Drosophila Pur-α binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Neurodegeneration the RNA way

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Mouse models of the fragile x premutation and the fragile X associated 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=4135345

The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in 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=4135345

Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

CGG repeat in the FMR1 gene: size matters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in 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=4135345

Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities!

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model 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=4135345

Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Non-ATG-initiated translation directed by microsatellite expansions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with 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=4135345

Evidence of mitochondrial dysfunction in fragile X-associated 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=4135345

Advances in understanding the molecular basis of 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=4135345

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Evidence for RNA-mediated toxicity in the fragile X-associated 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=4135345

Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Fibroblast phenotype in male carriers of FMR1 premutation alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Novel roles for A-type lamins in telomere biology and the DNA damage response pathway.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Mouse models of fragile X-associated tremor ataxia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

The FMR1 gene and fragile X-associated 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=4135345

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated 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=4135345

The role of the dentate gyrus, CA3a,b, and CA3c for detecting spatial and environmental novelty.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Conditional loss of Dicer disrupts cellular and tissue morphogenesis in the cortex and 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=4135345

Transthyretin protects Alzheimer's mice from the behavioral and biochemical effects of Abeta toxicity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation 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=4135345

Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X 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=4135345

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Cerebellar neurodegeneration in the absence of microRNAs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Telomeres and human disease: ageing, cancer and beyond

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for 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=4135345

Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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=4135345

Aging in individuals with the FMR1 mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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=4135345

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=4135345

The fragile X premutation: into the phenotypic fold

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Molecular basis for impaired muscle differentiation in myotonic dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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=4135345

Neurons derived from radial glial cells establish radial units in neocortex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

Fragile X genotype characterized by an unstable region of DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

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=4135345

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation 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=4135345

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insuffici

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Isolation of pathology-associated intranuclear inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Protein composition of the intranuclear inclusions of FXTAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Instability of a (CGG)98 repeat in the Fmr1 promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Gene expression profiles in the cerebellum of transgenic mice over expressing the human FMR1 gene with CGG repeats in the normal range

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Dendritic spine abnormalities in the occipital cortex of C57BL/6 Fmr1 knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Lamins A and C but not lamin B1 regulate nuclear mechanics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Specific dephosphorylation of the Lck tyrosine protein kinase at Tyr-394 by the SHP-1 protein-tyrosine phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Fragile X syndrome: From protein function to therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Elevated plasma levels of alpha-1-anti-chymotrypsin in age-related cognitive decline and Alzheimer's disease: a potential therapeutic target.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-25

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

The 5'-untranslated region of the FMR1 message facilitates translation by internal ribosome entry.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135345

28 October 2018

Identifiers

DOI

10.1186/1866-1955-6-25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 June 2020

1021677191

0 references

Fatcat ID

release_i6ku5ag44zdqfef56svnvhj3qq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/i6ku5ag44zdqfef56svnvhj3qq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25136376%20AND%20SRC:MED&resulttype=core&format=json