Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates (Q33905067)

29 July 2017

title

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

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29 July 2017

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Vincent Des Portes

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29 July 2017

Randi J Hagerman

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29 July 2017

Flora Tassone

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29 July 2017

Paul J Hagerman

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29 July 2017

Elizabeth Berry-Kravis

object named as

Elizabeth Berry-Kravis

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29 July 2017

Sébastien Jacquemont

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29 July 2017

Maureen Leehey

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29 July 2017

Jim Grigsby

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29 July 2017

Lin Zhang

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29 July 2017

James A Brunberg

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29 July 2017

Claudia Greco

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29 July 2017

Tristan Jardini

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29 July 2017

Richard Levine

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29 July 2017

W Ted Brown

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29 July 2017

Stephane Schaeffer

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29 July 2017

John Kissel

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29 July 2017

language of work or name

English

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publication date

12 March 2003

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American Journal of Human Genetics

29 July 2017

published in

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29 July 2017

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29 July 2017

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29 July 2017

page(s)

869-878

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Transcription of the FMR1 gene in individuals with fragile X syndrome

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

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=1180350

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=1180350

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a 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=1180350

Behavioral and psychiatric disorders in adult male carriers of 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=1180350

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of 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=1180350

Instability of a 550-base pair DNA segment and abnormal methylation 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=1180350

Absence of expression of the FMR-1 gene 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=1180350

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=1180350

The fragile X premutation presenting as essential tremor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Brain magnetic resonance imaging in multiple-system atrophy and Parkinson disease: a diagnostic algorithm

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Characteristic MRI findings in multiple system atrophy: comparison of the three subtypes

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Phenotypic involvement in females with the FMR1 gene mutation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Executive cognitive abilities and functional status among community-dwelling older persons in the San Luis Valley Health and Aging Study.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Fragile-X carrier females: evidence for a distinct psychopathological phenotype?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Rapid antibody test for fragile X syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180350

Molecular predictors of cognitive involvement in female carriers of fragile X syndrome

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12638084

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12638084

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12638084

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/374321

1 reference

29 July 2017

1 reference

29 July 2017

1 reference