Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. (Q37663133)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463693%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS (English)

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27 January 2020

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3

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27 January 2020

author name string

F Tassone

1

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27 January 2020

C M Greco

2

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27 January 2020

A L Seritan

4

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27 January 2020

R F Berman

5

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27 January 2020

L W Gane

6

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27 January 2020

S Jacquemont

7

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27 January 2020

K Basuta

8

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27 January 2020

L-W Jin

9

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27 January 2020

P J Hagerman

10

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27 January 2020

R J Hagerman

11

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27 January 2020

language of work or name

English

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publication date

6 April 2012

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Genes, Brain and Behavior

27 January 2020

published in

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volume

11

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page(s)

577-585

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issue

5

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Sleep apnea in fragile X premutation carriers with and without FXTAS.

27 January 2020

cites work

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23 August 2017

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23 August 2017

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23 August 2017

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Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers

23 August 2017

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Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome

23 August 2017

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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

23 August 2017

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Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome

23 August 2017

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Examination of FMR1 transcript and protein levels among 74 premutation carriers

23 August 2017

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Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.

23 August 2017

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Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome

23 August 2017

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A review of fragile X premutation disorders: expanding the psychiatric perspective

23 August 2017

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

23 August 2017

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FMR1: a gene with three faces

23 August 2017

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

23 August 2017

1 reference

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The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.

23 August 2017

1 reference

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Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease

23 August 2017

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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.

23 August 2017

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Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

23 August 2017

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Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

23 August 2017

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Aging in individuals with the FMR1 mutation

23 August 2017

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

23 August 2017

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

23 August 2017

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

23 August 2017

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

6 September 2017

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

6 September 2017

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

14 September 2017

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Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

14 September 2017

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

25 June 2018

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25 June 2018

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FMR1 premutation in females diagnosed with multiple sclerosis.

1 September 2018

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Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS).

1 September 2018

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Mood and anxiety disorders in females with the FMR1 premutation

1 September 2018

1 reference

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Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation.

1 September 2018

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Expanded clinical phenotype of women with the FMR1 premutation.

1 September 2018

1 reference

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

1 September 2018

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Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure

1 September 2018

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Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).

1 September 2018

1 reference

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

1 September 2018

1 reference

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Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome

1 September 2018

1 reference

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Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.

1 September 2018

1 reference

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1 September 2018

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Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.

1 September 2018

1 reference

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

1 September 2018

1 reference

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Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study.

1 September 2018

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

1 September 2018

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Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.

1 September 2018

1 reference

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

1 September 2018

1 reference

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

1 September 2018

1 reference

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965773

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965773

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

1 September 2018

1 reference

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1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22463693

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Practical measures to simplify the Braak tangle staging method for routine pathological screening

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22463693

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1601-183X.2012.00779.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463693%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463693%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference