Researcher:
Demir, Ata Berk

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PhD Student

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Ata Berk

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Demir

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Demir, Ata Berk

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2018 - 201912020 - 20211

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Researcher Of Publications: search.filters.isAuthorOfPublication.427b7c34-204d-4897-a4e1-deda8ee1aaa8

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    Assessment of the corticospinal fiber integrity in mirror movement disorder
    (Elsevier, 2018) Solmaz, Bilgehan; Akçimen, Fulya; Dalçık, Hakkı; Algın, Oktay; Başak, Ayşe Nazlı; Çavdar, Safiye; Özyurt, Mustafa Görkem; Shabsog, Mohammed Kamal Yahya; Türker, Kemal Sıtkı; Demir, Ata Berk; Özgür, Merve; Faculty Member; PhD Student; Undergraduate Student; Faculty Member; PhD Student; PhD Student; School of Medicine; Graduate School of Sciences and Engineering; School of Medicine; School of Medicine; Graduate School of Health Sciences; Graduate School of Health Sciences; 1995; N/A; N/A; 6741; N/A; 197462
    Mirror movements are unintended movements occurring on one side of the body that mirror the contralateral voluntary ones. It has been proposed that mirror movements occur due to abnormal decussation of the corticospinal pathways. Using detailed multidisciplinary approach, we aimed to enlighten the detailed mechanism underlying the mirror movements in a case subject who is diagnosed with mirror movements of the hands and we compared the findings with the unaffected control subjects. To evaluate the characteristics of mirror movements, we used several techniques including whole exome sequencing, computed tomography, diffusion tensor imaging and transcranial magnetic stimulation. Computed tomography showed the absence of a spinous process of C5, fusion of the body of C5-C6 vertebrae, hypoplastic dens and platybasia of the posterior cranial fossa. A syrinx cavity was present between levels C3-C4 of the spinal cord. Diffusion tensor imaging of the corticospinal fibers showed disorganization and minimal decussations at the lower medulla oblongata. Transcranial magnetic stimulation showed that motor commands were distributed to the motor neuron pools on the left and right sides of the spinal cord via fast-conducting corticospinal tract fibers. Moreover, a heterozygous missense variation in the deleted in colorectal carcinoma gene has been observed. Developmental absence of the axonal guidance molecules or their receptors may result in abnormalities in the leading of the corticospinal fibers. Clinical evaluations and basic neuroscience techniques, in this case, provide information for this rare disease and contribute to our understanding of the normal physiology of bimanual coordination. (C) 2018 Elsevier Ltd. All rights reserved.
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    PublicationOpen Access
    Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene
    (Elsevier, 2021) Kelekçi, Simge; Uğurlu Çimen, Deniz; Demir, Ata Berk; Özçimen, Burcu; Yıldız, Abdullah Burak; Karakuş, Mehmet Batuhan; Börklü Yücel, Esra; Önder, Tamer Tevfik; PhD Student; Undergraduate Student; Other; Faculty Member; Graduate School of Health Sciences; School of Medicine; Koç University Hospital; N/A; N/A; N/A; N/A; N/A; N/A; N/A; 42946
    Friedreich's ataxia (FRDA) is a rare neurodegenerative disorder which is caused by triplet repeat expansion (GAA) in the first intron of FXN gene. In this present study, we generated induced pluripotent stem cells (iPSC) lines from fibroblasts of three unrelated FRDA patients using integration-free episomal vectors. All iPSC lines express the pluripotency markers such as OCT4 and SSEA4, display normal karyotypes and can differentiate into all three germ layers via in vivo teratoma formation assay.