Browsing by Keywords "Cerebellar hypoplasia"

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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 ...
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Kolb, L. E.; Arlier, Z.; Yalcinkaya, C.; Ozturk, A. K.; Moliterno, J. A.; Erturk, O.; Bayrakli, F.; Korkmaz, B.; DiLuna, M. L.; Yasuno, K.; Bilguvar, K.; Ozcelik, T.; Tuysuz, B.; State, M. W.; Gunel, M. (Springer, 2010)

Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes ...