A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD-Reference-Cited by-同舟云学术

A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD

Published:2015-03 Issue:3 Volume:36 Page:1601.e1-1601.e5
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Rollinson Sara,Bennion Callister Janis,Young Kate,Ryan Sarah J.,Druyeh Ronald,Rohrer Jonathan D.,Snowden Julie,Richardson Anna,Jones Matt,Harris Jenny,Davidson Yvonne,Robinson Andrew,Ealing John,Johnson Janel O.,Traynor Bryan,Mead Simon,Mann David,Pickering-Brown Stuart M.

Funder

Medical Research Council

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Clinical Neurology,Ageing,General Neuroscience

Reference16 articles.

1. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories;Akimoto;J Med Genet,2014

2. Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS;Ash;Neuron,2013

3. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17;Baker;Nature,2006

4. Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population;Beck;Am J Hum Genet,2013

5. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS;DeJesus-Hernandez;Neuron,2011

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1. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center;Neurogenetics;2024-06-07

2. C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds;Neurology Genetics;2024-02

3. Aspects of degradation and translation of the expanded C9orf72 hexanucleotide repeat RNA;Journal of Neurochemistry;2023-06-05

4. C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity;Frontiers in Genetics;2023-03-01

5. The Psychiatric Misdiagnosis of Behavioral Variant Frontotemporal Dementia in a Colombian Sample;Frontiers in Neurology;2021-11-15