English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
 
 
DownloadE-Mail
  Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases

Lill, C. M., Abel, O., Bertram, L., & Al-Chalabi, A. (2011). Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases. Amyotrophic Lateral Sclerosis: Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 12(4), 238-49. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21702733 http://informahealthcare.com/doi/pdfplus/10.3109/17482968.2011.584629.

Item is

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Lill, C. M.1, Author           
Abel, O., Author
Bertram, L.1, Author           
Al-Chalabi, A., Author
Affiliations:
1Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479655              

Content

show
hide
Free keywords: Amyotrophic Lateral Sclerosis/*genetics/physiopathology; *Databases, Factual; Genetic Predisposition to Disease; Genotype; Humans; Mutation; Phenotype; Software; User-Computer Interface
 Abstract: Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous disorder that shows a characteristic dichotomy of familial forms typically displaying Mendelian inheritance patterns, and sporadic ALS showing no or less obvious familial aggregation. While the former is caused by rare, highly penetrant, and pathogenic mutations, risk for sporadic ALS is probably the result of the combined effects of common polymorphisms with minor to moderate effect sizes. Owing to recent advances in high-throughput genotyping and sequencing technologies, genetic research in both fields is evolving at a rapidly increasing pace making it more and more difficult to follow and evaluate the most significant progress in the field. To alleviate this problem, our groups have created dedicated and freely available online databases, ALSoD ( http://alsod.iop.kcl.ac.uk/ ) and ALSGene ( http://www.alsgene.org ), which provide systematic and in-depth qualitative and quantitative overviews of genetic research in both familial and sporadic ALS. This review briefly introduces the background and main features of both databases and provides an overview of the currently most compelling genetic findings in ALS derived from analyses using these resources.

Details

show
hide
Language(s):
 Dates: 2011
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 12 (4) Sequence Number: - Start / End Page: 238 - 49 Identifier: ISSN: 1471-180X (Electronic) 1471-180X (Linking)