(Q33617809)

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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

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

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 (English)

1 reference

Europe PubMed Central

28 July 2017

Parkinson's disease

1 reference

based on heuristic

inferred from title

parkinsonian syndrome

1 reference

based on heuristic

inferred from title

15

object named as

Malcolm Horne

1 reference

Europe PubMed Central

28 July 2017

Danuta Z Loesch

1

object named as

Danuta Z Loesch

1 reference

Europe PubMed Central

28 July 2017

8

object named as

Elsdon Storey

1 reference

Europe PubMed Central

28 July 2017

author name string

David E Godler

2

1 reference

Europe PubMed Central

28 July 2017

Andrew Evans

3

1 reference

Europe PubMed Central

28 July 2017

Quang M Bui

4

1 reference

Europe PubMed Central

28 July 2017

Freya Gehling

5

1 reference

Europe PubMed Central

28 July 2017

Katya E Kotschet

6

1 reference

Europe PubMed Central

28 July 2017

Nicholas Trost

7

1 reference

Europe PubMed Central

28 July 2017

Paige Stimpson

9

1 reference

Europe PubMed Central

28 July 2017

Glynda Kinsella

10

1 reference

Europe PubMed Central

28 July 2017

David Francis

11

1 reference

Europe PubMed Central

28 July 2017

David R Thorburn

12

1 reference

Europe PubMed Central

28 July 2017

Alison Venn

13

1 reference

Europe PubMed Central

28 July 2017

Howard R Slater

14

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 May 2011

1 reference

Europe PubMed Central

28 July 2017

Genetics in Medicine

1 reference

Europe PubMed Central

28 July 2017

13

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Europe PubMed Central

28 July 2017

5

1 reference

Europe PubMed Central

28 July 2017

392-399

1 reference

Europe PubMed Central

28 July 2017

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3182064362

0 references

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

How do human cells react to the absence of mitochondrial DNA?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Impaired mitochondrial dynamics and function in the pathogenesis of Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Inhibition of mitochondrial function induces an integrated stress response in oligodendroglia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Multinuclear magnetic resonance spectroscopy for in vivo assessment of mitochondrial dysfunction in Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Mitochondria in the aetiology and pathogenesis of Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Gene-environment interactions in sporadic Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Molecular dissection of the events leading to inactivation of the FMR1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Respiratory complex III is required to maintain complex I in mammalian mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Screening for fragile X syndrome: a literature review and modelling study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Quantification of mRNA using real-time reverse transcription PCR (RT-PCR): trends and problems.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Standardization of a neuromotor test battery: the CATSYS system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

Expression of the human cytochrome c1 gene is controlled through multiple Sp1-binding sites and an initiator region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

The Mini-Mental State Examination score and the clinical diagnosis of dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

21 June 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

Premutation alleles associated with Parkinson disease and essential tremor.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

Parkinsonism, FXTAS, and FMR1 premutations

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

Screen for excess FMR1 premutation alleles among males with parkinsonism

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

Interrater reliability of the Unified Parkinson's Disease Rating Scale motor examination.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182064362

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

30 October 2018

Reliability of some tremor measurement outcome variables in field testing situations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

30 October 2018

A brief cognitive test battery to differentiate Alzheimer's disease and frontotemporal dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022481

30 October 2018

A mutation in the gene encoding cytochrome c1 leads to a decreased ROS content and to a long-lived phenotype in the filamentous fungus Podospora anserina

1 reference

https://pubmed.ncbi.nlm.nih.gov/21270637

12 December 2020

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10.1097/GIM.0B013E3182064362

1 reference

Europe PubMed Central

28 July 2017

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24 November 2022

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Europe PubMed Central

28 July 2017

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Europe PubMed Central

28 July 2017

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