(Q37429235)

English

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

scientific article published on 05 September 2013

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

20 August 2017

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study (English)

1 reference

Europe PubMed Central

20 August 2017

Dennis W. Dickson

20

1 reference

Europe PubMed Central

20 August 2017

Marka van Blitterswijk

1

object named as

Marka van Blitterswijk

0 references

Mariely DeJesus-Hernandez

2

object named as

Mariely DeJesus-Hernandez

0 references

object named as

Peter O Bauer

10

0 references

Melissa E. Murray

object named as

Melissa E Murray

4

0 references

Leonard Petrucelli

19

object named as

Leonard Petrucelli

1 reference

Europe PubMed Central

20 August 2017

Rosa Rademakers

21

object named as

Rosa Rademakers

1 reference

Europe PubMed Central

20 August 2017

Ronald C. Petersen

15

object named as

Ronald C Petersen

1 reference

Europe PubMed Central

20 August 2017

12

object named as

Thomas G Beach

1 reference

Europe PubMed Central

20 August 2017

David S Knopman

14

object named as

David S Knopman

1 reference

Europe PubMed Central

20 August 2017

Bradley F Boeve

16

object named as

Bradley F Boeve

1 reference

Europe PubMed Central

20 August 2017

Ellis Niemantsverdriet

3

object named as

Ellis Niemantsverdriet

1 reference

Europe PubMed Central

20 August 2017

Neill R Graff-Radford

17

object named as

Neill R Graff-Radford

1 reference

Europe PubMed Central

20 August 2017

Keith A Josephs

13

object named as

Keith A Josephs

1 reference

Europe PubMed Central

20 August 2017

Michael G Heckman

5

object named as

Michael G Heckman

1 reference

Europe PubMed Central

20 August 2017

18

object named as

Kevin B Boylan

1 reference

Europe PubMed Central

20 August 2017

9

object named as

NiCole A Finch

1 reference

Europe PubMed Central

20 August 2017

6

object named as

Nancy N Diehl

1 reference

Europe PubMed Central

20 August 2017

Geidy E Serrano

11

object named as

Geidy Serrano

1 reference

Europe PubMed Central

20 August 2017

author name string

Patricia H Brown

7

1 reference

Europe PubMed Central

20 August 2017

Matthew C Baker

8

1 reference

Europe PubMed Central

20 August 2017

publication date

5 September 2013

1 reference

Europe PubMed Central

20 August 2017

Lancet Neurology

1 reference

Europe PubMed Central

20 August 2017

12

1 reference

Europe PubMed Central

20 August 2017

10

1 reference

Europe PubMed Central

20 August 2017

978-988

1 reference

Europe PubMed Central

20 August 2017

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Transcription elongation and tissue-specific somatic CAG instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Neuropathology does not Correlate with Regional Differences in the Extent of Expansion of CTG Repeats in the Brain with Myotonic Dystrophy Type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

The expanding world of myotonic dystrophies: how can they be detected?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Relaxing the rule of ten events per variable in logistic and Cox regression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

A concordance correlation coefficient to evaluate reproducibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

23 August 2017

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

26 June 2018

Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

26 June 2018

Somatic instability of CTG repeat in myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

26 June 2018

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

26 June 2018

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

26 June 2018

Somatic instability of CTG repeats in the cerebellum of myotonic dystrophy type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

2 September 2018

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

2 September 2018

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

2 September 2018

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

2 September 2018

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

2 September 2018

Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

2 September 2018

Somatic expansion of the (CAG)n repeat in Huntington disease brains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879782

2 September 2018

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970210-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970210-2

7 January 2021

based on heuristic

inferred from DOI database lookup

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970210-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970210-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital myotonic dystrophy pathology and somatic mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970210-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1474-4422(13)70210-2

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37429235&oldid=2093631922"