Search for dissertations about: "SMN2"

Found 2 swedish dissertations containing the word SMN2.

  2. 1. On the aetiology of ALS : a comprehensive genetic study

    Author : Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

    Abstract : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. READ MORE

  4. 2. Regulation of the vertebrate transcriptome in development and disease

    Author : Helena Storvall; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : In the last decade we have seen a tremendous development in the omics area (genomics, transcriptomics, proteomics etc.), making high throughput methods increasingly costeffective and available. READ MORE