(Q34104949)

31 July 2017

title

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism (English)

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31 July 2017

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parkinsonian syndrome

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D Z Loesch

1

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31 July 2017

K Kotschet

2

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31 July 2017

N Trost

3

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31 July 2017

C M Greco

4

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31 July 2017

G Kinsella

5

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31 July 2017

H R Slater

6

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31 July 2017

A Venn

7

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31 July 2017

M Horne

8

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31 July 2017

language of work or name

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28 March 2011

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

31 July 2017

published in

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31 July 2017

volume

156B

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31 July 2017

issue

4

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31 July 2017

page(s)

502-506

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

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

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

28 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31189

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/10.1002%2FAJMG.B.31189

Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31189

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/10.1002%2FAJMG.B.31189

Hyperintensity in the basis pontis: atypical neuroradiological findings in a woman with FXTAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31189

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4148303

28 October 2018

Identifiers

DOI

10.1002/AJMG.B.31189

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31 July 2017

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31 July 2017

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