(Q50264940)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

D Z Loesch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

S Sherwell

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

G Kinsella

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

F Tassone

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

A Taylor

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

S Sung

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

A Evans

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

publication date

28 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

88-92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21476992%20AND%20SRC:MED&resulttype=core&format=json

Phenotypic variation and FMRP levels in fragile X.

28 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Examination of FMR1 transcript and protein levels among 74 premutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Transcription of the FMR1 gene in individuals with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Rapid antibody test for fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Neuroimaging of the Wernicke-Korsakoff syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Alcohol-induced changes in the brain as assessed by MRI and CT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

The Korsakoff syndrome: clinical aspects, psychology and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Alcoholic neurobiology: changes in dependence and recovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X

Aging in fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01675.X