A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy

Author:

Grewal K.K.,Stefanelli M.G.,Meijer I.A.,Hand C.K.,Rouleau G.A.,Ives E.J.

Publisher

Wiley

Subject

Genetics(clinical)

Reference14 articles.

1. 2000. Autosomal recessive spastic ataxia (Charlevoix-Saguenay) In: editor. Handbook of ataxia disorders. New York: Marcel Dekker. pp 312-323.

2. 1991. Hereditary spastic ataxia. In: editor. Hereditary neuropathies and spinocerebellar atrophies, handbook of clinical neurology 16. Amsterdam: Elsevier Science. pp 461-466.

3. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

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4. VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families;The American Journal of Human Genetics;2012-09

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