FXTAS: a progressive neurologic syndrome associated with Fragile X premutation (Q36244598)

13 August 2017

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title

FXTAS: a progressive neurologic syndrome associated with Fragile X premutation (English)

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13 August 2017

3

Ben A Oostra

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13 August 2017

Rob Willemsen

1

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13 August 2017

Edwin Mientjes

series ordinal

2

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13 August 2017

publication date

1 September 2005

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Current Neurology and Neuroscience Reports

13 August 2017

published in

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13 August 2017

volume

5

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13 August 2017

issue

5

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13 August 2017

page(s)

405-410

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

13 August 2017

cites work

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https://api.crossref.org/works/10.1007%2FS11910-005-0065-5

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0065-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0065-5

Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Fragile X gene premutation in multiple system atrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

The fragile X syndrome: from molecular genetics to neurobiology

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Expanded FMR1 alleles are rare in idiopathic Parkinson's disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Absence of expression of the FMR-1 gene in fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Premutation alleles associated with Parkinson disease and essential tremor

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Screen for expanded FMR1 alleles in patients with essential tremor

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Fragile X carrier screening and spinocerebellar ataxia in older males

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

A cerebellar tremor/ataxia syndrome among fragile X premutation carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Parkinsonism, FXTAS, and FMR1 premutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Toxic proteins in neurodegenerative disease

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https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

A fragile balance: FMR1 expression levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Pathogenic RNA repeats: an expanding role in genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

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https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Expression of the FMR1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Screening for fragile X syndrome in women of reproductive age

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16131424

12 December 2020

10.1007/S11910-005-0065-5

Identifiers

DOI

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13 August 2017

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