Browsing by Keywords "CAMRQ"

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Identification of ATP8A2 gene mutation in a consaguineous family segregating cerebellar atrophy and quadrupedal gait

Onat, Onur Emre (Bilkent University, 2012)

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome is a rare and heterogeneous neurodevelopmental disorder characterized by cerebellar atrophy, dysarthric speech, and quadrupedal locomotion. Here, a ...
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Onat, O. E.; Gulsuner, S.; Bilguvar, K.; Basak, A. N.; Topaloglu, H.; Tan, M.; Tan, U.; Gunel, M.; Ozcelik, T. (Nature Publishing Group, 2013)

Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity ...