Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia (Q47209262)

http://europepmc.org/abstract/MED/24057670

11 January 2018

title

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia (English)

1 reference

http://europepmc.org/abstract/MED/24057670

11 January 2018

main subject

amyotrophic lateral sclerosis and frontotemporal dementia

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amyotrophic lateral sclerosis

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frontotemporal dementia

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16

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14 June 2020

Jordi Clarimón

25

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14 June 2020

Oriol Dols Icardo

1

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14 June 2020

Ricard Rojas-Garcia

3

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14 June 2020

Raquel Sanchez-Valle

4

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14 June 2020

Pau Pastor

7

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14 June 2020

Marc Suárez-Calvet

10

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14 June 2020

Anna Antonell

18

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14 June 2020

author name string

Alberto García-Redondo

2

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14 June 2020

Aina Noguera

5

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14 June 2020

Estrella Gómez-Tortosa

6

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14 June 2020

Isabel Hernández

8

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14 June 2020

Jesús Esteban-Pérez

9

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14 June 2020

Sofía Antón-Aguirre

11

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14 June 2020

Guillermo Amer

12

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14 June 2020

Sara Ortega-Cubero

13

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14 June 2020

Rafael Blesa

14

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14 June 2020

Juan Fortea

15

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14 June 2020

Aura Capdevila

17

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14 June 2020

Albert Lladó

19

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14 June 2020

José Luís Muñoz-Blanco

20

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14 June 2020

Jesús S Mora

21

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14 June 2020

Lucía Galán-Dávila

22

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14 June 2020

Francisco Javier Rodríguez De Rivera

23

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14 June 2020

Alberto Lleó

24

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14 June 2020

publication date

20 September 2013

1 reference

http://europepmc.org/abstract/MED/24057670

11 January 2018

published in

Human Molecular Genetics

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14 June 2020

volume

23

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14 June 2020

issue

3

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14 June 2020

page(s)

749-754

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

14 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

Expandable DNA repeats and human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

Subtypes of progressive aphasia: application of the International Consensus Criteria and validation using β-amyloid imaging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460

Neuroimaging and biochemical markers in the three variants of primary progressive aphasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT460