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Results 1 - 10 of 14 for Dysmetria
  1. ... with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder ... a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016 Sep 5; ...
  2. ... gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1). All the mutations that have ... GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1): ...
  3. ... epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function that typically ... the brain leads to the development of epilepsy, cerebellar ataxia, and other signs and symptoms in adolescence or ...
  4. ... sexual development (hypogonadotropic hypogonadism) and difficulty coordinating movements (cerebellar ataxia). Many people with Gordon Holmes syndrome caused by ...
  5. ... Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005 Dec; ...
  6. ... Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation ...
  7. ... frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet ...
  8. ... the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms ...
  9. ... Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the ...
  10. ... Beis JM, Brice A, Koenig M, Durr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic ...
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