Browsing by Author "Erturk, O."

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Open Access
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
(Springer, 2010) 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.
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 a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and can be caused by mutations in the Very Low Density Lipoprotein Receptor (VLDLR). Interestingly, while the majority of patients with VLDL-associated cerebellar hypoplasia in the literature use bipedal gait, the previously reported patients of Turkish decent have demonstrated similar neurological sequelae, but rely on quadrupedal gait. We present a consanguinous Turkish family with two siblings with cerebellar atrophy, predominantly frontal pachygyria and ataxic bipedal gait, who were found to have a novel homozygous deletion in the VLDLR gene identified by using high-density single nucleotide polymorphism microarrays for homozygosity mapping and identification of CNVs within these regions. Discovery of disease causing homozygous deletions in the present Turkish family capable of maintaining bipedal movement exemplifies the phenotypic heterogeneity of VLDLR-associated cerebellar hypoplasia and ataxia.
Open Access
Tomographic reconstruction of the ionospheric electron density as a function of space and time
(ELSEVIER, 2009) Erturk, O.; Arıkan, Orhan; Arikan, F.
Electron density distribution is the major determining parameter of the ionosphere. Computerized Ionospheric Tomography (CIT) is a method to reconstruct ionospheric electron density image by computing Total Electron Content (TEC) values from the recorded Global Positioning Satellite System (GPS) signals. Due to the multi-scale variability of the ionosphere and inherent biases and errors in the computation of TEC, CIT constitutes an underdetermined ill-posed inverse problem. In this study, a novel Singular Value Decomposition (SVD) based CIT reconstruction technique is proposed for the imaging of electron density in both space (latitude, longitude, altitude) and time. The underlying model is obtained from International Reference Ionosphere (IRI) and the necessary measurements are obtained from earth based and satellite based GPS recordings. Based on the IRI-2007 model, a basis is formed by SVD for the required location and the time of interest. Selecting the first few basis vectors corresponding to the most significant singular values, the 3-D CIT is formulated as a weighted least squares estimation problem of the basis coefficients. By providing significant regularization to the tomographic inversion problem with limited projections, the proposed technique provides robust and reliable 3-D reconstructions of ionospheric electron density.