Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay-Reference-Cited by-同舟云学术

Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay

Published:2018-11-15 Issue:1-2 Volume:20 Page:107-114
ISSN:2167-8421
Container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
language:en
Short-container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Author:

Bram Eran¹^ORCID,Javanmardi Kamyab¹,Nicholson Kimberly¹,Culp Kristen¹,Thibert Julie R.¹,Kemppainen Jon¹,Le Vivian¹,Schlageter Annette¹,Hadd Andrew¹,Latham Gary J.¹

Affiliation:

1. Asuragen, Inc, Austin, TX, USA

Publisher

Informa UK Limited

Subject

Neurology (clinical),Neurology

Link

http://www.tandfonline.com/doi/pdf/10.1080/21678421.2018.1522353

Reference32 articles.

1. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

2. Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

3. C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

4. A Pan‐European Study of theC9orf72Repeat Associated withFTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

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