Sökning: "ATXN2"

Hittade 2 avhandlingar innehållade ordet ATXN2.

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

   Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

3. 2. Heredity in Parkinson's disease. From rare mutations to common genetic risk factors

   Författare :Andreas Puschmann; Sektion IV; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s disease; parkinsonism; genetics; alpha-synuclein; SNCA duplicaion; SNCA triplication; LRRK2; PARKIN; PARK2; VPS35; EIF4G1; rare variants; digenic inheritance; heritability;

   Sammanfattning : This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and triplications of the gene for alpha-synuclein (SNCA) was studied. Clinical, genetic and genealogical data were compiled and evaluated. LÄS MER