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Results 1 - 7 of 7 for Autosomal recessive cerebellar ataxia
  1. SYNE1 gene 
    ... the SYNE1 gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1). All the mutations that have ... JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1): ...
    https://medlineplus.gov/genetics/gene/syne1 - Genetics
  2. AMACR gene 
    ... R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011 May 17;76(20):1768-70. ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
  3. VLDLR gene 
    ... JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol. ...
    https://medlineplus.gov/genetics/gene/vldlr - Genetics
  4. SACS gene 
    ... the SACS gene have been found to cause autosomal recessive spastic ataxia of ... (cerebellar ataxia), and reduced sensation and weakness in the ...
    https://medlineplus.gov/genetics/gene/sacs - Genetics
  5. TPP1 gene 
    ... gene have also been found to cause spinocerebellar ataxia, autosomal recessive 7 (SCAR7), which is a condition characterized by ... of TPP1 PubMed TRIPEPTIDYL PEPTIDASE I; TPP1 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 NCBI Gene ClinVar Elleder M, Dvorakova ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  6. POLR3A gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  7. POLR3B gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics