2. Academic Validation
  3. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

  • Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362.
Karine Choquet 1,  Olga Zurita-Rendón 2,  Roberta La Piana 2,  Sharon Yang 2,  Marie-Josée Dicaire 2,  Care4Rare Consortium,  Kym M Boycott 3,  Jacek Majewski 4,  Eric A Shoubridge 1,  Bernard Brais 1,  Martine Tétreault 5
Affiliations

Affiliations

  • 1 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada 2 Department of Human Genetics, McGill University, Montreal, Québec, Canada.
  • 2 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.
  • 3 3 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • 4 2 Department of Human Genetics, McGill University, Montreal, Québec, Canada 4 McGill University and Genome Quebec Innovation Centre, Montreal, Québec, Canada.
  • 5 2 Department of Human Genetics, McGill University, Montreal, Québec, Canada 4 McGill University and Genome Quebec Innovation Centre, Montreal, Québec, Canada [email protected].
PMID: 26657514 DOI: 10.1093/brain/awv362
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