Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation (Q24533431)

1

0 references

B R Leavitt

2

0 references

F Farzin

3

0 references

S Jacquemont

4

0 references

C M Greco

5

0 references

J A Brunberg

6

0 references

D Hessl

8

0 references

S W Harris

9

0 references

L Zhang

10

0 references

T Jardini

11

0 references

L W Gane

12

0 references

J Ferranti

13

0 references

L Ruiz

14

0 references

M A Leehey

15

0 references

J Grigsby

16

0 references

P J Hagerman

American Journal of Human Genetics

17

0 references

language of work or name

English

0 references

publication date

May 2004

0 references

published in

0 references

volume

74

0 references

issue

5

0 references

page(s)

1051-6

0 references

cites work

The fragile-X premutation: a maturing perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

Aging in individuals with the FMR1 mutation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

A cerebellar tremor/ataxia syndrome among fragile X premutation carriers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

Reproductive and menstrual history of females with fragile X expansions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

The fragile X premutation presenting as essential tremor.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

Phenotypic involvement in females with the FMR1 gene mutation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181968

Tremor and ataxia in fragile X premutation carriers: Blinded videotape study

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15065016

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/420700

1 reference

2972618

2972618

1 reference

1 reference

1 reference