Skip navigation

Refine by Type

Results 1 - 10 of 17 for Spinocerebellar ataxia autosomal recessive 1
  1. Rare Diseases Clinical Research Network (Rare Diseases Clinical Research Network)  
    ... More Information ] [+] Clinical Research Consortium for ... recessive ataxia of Charlevoix-Saguenay (ARSACS) Dentatorubral-pallidoluysian atrophy ( ...
  2. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
  3. ... Genetic Testing Registry - Repository of genetic test information (1 link) ClinicalTrials.gov - Linking patients to medical research OMIM - Genetic disorder catalog What other names do people use for ARCA1? autosomal recessive spinocerebellar ataxia 8 recessive ataxia of Beauce For more information ...
  4. Ataxias and Cerebellar/Spinocerebellar Degeneration From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    ... neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar ... parent; and autosomal recessive, in which both parents pass on a copy ...
  5. ... mutations. The parents of an individual with an autosomal recessive condition each ... Genetic Testing Registry: Mitochondrial DNA depletion syndrome 7 ( ...
  6. Gene Testing for Hereditary Ataxia (National Ataxia Foundation) - PDF  
    ... As of 2013, genetic testing is available for spinocerebellar ataxia types 1, 2, 3, 5, 6, 7, 8, ... autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS); and ...
  7. ... mutations. The parents of an individual with an autosomal recessive condition each carry ... Ataxia Type 17 Genetic Testing Registry: Huntington disease-like ...
  8. ... with ocular motor apraxia and hypoalbuminemia SCAN2 SCAR1 spinocerebellar ataxia, recessive, non-Friedreich type 1 spinocerebellar ataxia with axonal neuropathy type 2 For ...
  9. Muscular Dystrophy: Hope Through Research From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... autosomal dominant limb-girdle MD (known as type 1) and 17 forms of autosomal recessive limb-girdle MD (known as type 2) have ... a disease by receiving a normal gene from one parent and a defective gene from the other parent. autosomal recessive - a pattern of inheritance in which both parents ...
  10. ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically ...
previous · 1 · 2 · next