Search Results - Cirak, Sebahattin

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  1. 1
    Pitfall of identifying a disease locus by using low-resolution SNP arrays

    Pitfall of identifying a disease locus by using low-resolution SNP arrays by Gundesli, Hulya, Cirak, Sebahattin, Dincer, Pervin

    Published 2011
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  2. 2
    What Can We Learn From Clinical Trials of Exon Skipping for DMD?

    What Can We Learn From Clinical Trials of Exon Skipping for DMD? by Lu, Qi-long, Cirak, Sebahattin, Partridge, Terence

    Published 2014
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  3. 3
    Acanthocytosis and HyperCKemia

    Acanthocytosis and HyperCKemia by Yiş, Uluç, Becker, Kerstin, Yılmaz, Şebnem, Çırak, Sebahattin

    Published 2018
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  4. 4
    Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

    Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies by Yis, Uluç, Baydan, Figen, Karakaya, Mert, Hız Kurul, Semra, Cirak, Sebahattin

    Published 2016
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  5. 5
    Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia

    Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia by Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Cirak, Sebahattin

    Published 2018
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  6. 6
    Stepwise ABC system for classification of any type of genetic variant

    Stepwise ABC system for classification of any type of genetic variant by Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T.

    Published 2021
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  7. 7
    Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

    Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies by Lin, Yung-Yao, White, Richard J., Torelli, Silvia, Cirak, Sebahattin, Muntoni, Francesco, Stemple, Derek L.

    Published 2011
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  8. 8
    Exome Sequencing Identifies DYNC1H1 Variant Associated with Vertebral Abnormality and SMA-LED

    Exome Sequencing Identifies DYNC1H1 Variant Associated with Vertebral Abnormality and SMA-LED by Punetha, Jaya, Monges, Soledad, Franchi, Maria Emilia, Hoffman, Eric P, Cirak, Sebahattin, Tesi-Rocha, Carolina

    Published 2014
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  9. 9
    Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD

    Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD by Akpulat, Ugur, Wang, Haicui, Becker, Kerstin, Contreras, Adriana, Partridge, Terence A., Novak, James S., Cirak, Sebahattin

    Published 2018
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  10. 10
    Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy

    Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy by Stark, Christina, Duran, Ibrahim, Cirak, Sebahattin, Hamacher, Stefanie, Hoyer-Kuhn, Heike-Katharina, Semler, Oliver, Schoenau, Eckhard

    Published 2018
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  11. 11
    Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis

    Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis by Fazeli, Walid, Karakaya, Mert, Herkenrath, Peter, Vierzig, Anne, Dötsch, Jörg, von Kleist-Retzow, Jürgen-Christoph, Cirak, Sebahattin

    Published 2016
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  12. 12
    DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study

    DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study by Bello, Luca, Morgenroth, Lauren P., Gordish-Dressman, Heather, Hoffman, Eric P., McDonald, Craig M., Cirak, Sebahattin

    Published 2016
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  13. 13
    Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

    Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy by Gundesli, Hulya, Talim, Beril, Korkusuz, Petek, Balci-Hayta, Burcu, Cirak, Sebahattin, Akarsu, Nurten A., Topaloglu, Haluk, Dincer, Pervin

    Published 2010
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  14. 14
    Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle

    Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle by Brockington, Martin, Torelli, Silvia, Sharp, Paul S., Liu, Ke, Cirak, Sebahattin, Brown, Susan C., Wells, Dominic J., Muntoni, Francesco

    Published 2010
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  15. 15
    Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy

    Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy by Cirak, Sebahattin, Feng, Lucy, Anthony, Karen, Arechavala-Gomeza, Virginia, Torelli, Silvia, Sewry, Caroline, Morgan, Jennifer E, Muntoni, Francesco

    Published 2012
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  16. 16
    Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene

    Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene by Wunderlich, Gilbert, Brunn, Anna, Daimagüler, Hülya-Sevcan, Bozoglu, Tarik, Fink, Gereon R., Lehmann, Helmar C., Weis, Joachim, Cirak, Sebahattin

    Published 2018
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  17. 17
    Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

    Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy by Dafsari, Hormos Salimi, Kocaturk, Nur Mehpare, Daimagüler, Hülya-Sevcan, Brunn, Anna, Dötsch, Jörg, Weis, Joachim, Deckert, Martina, Cirak, Sebahattin

    Published 2019
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  18. 18
    A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

    A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy by Wang, Haicui, Schänzer, Anne, Kampschulte, Birgit, Daimagüler, Hülya-Sevcan, Logeswaran, Thushiha, Schlierbach, Hannah, Petzinger, Jutta, Ehrhardt, Harald, Hahn, Andreas, Cirak, Sebahattin

    Published 2018
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  19. 19
    Novel mutations in SLC6A5 with benign course in hyperekplexia

    Novel mutations in SLC6A5 with benign course in hyperekplexia by Dafsari, Hormos Salimi, Kawalia, Amit, Sprute, Rosanne, Karakaya, Mert, Malenica, Anna, Herkenrath, Peter, Nürnberg, Peter, Motameny, Susanne, Thiele, Holger, Cirak, Sebahattin

    Published 2019
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  20. 20
    Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

    Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature by Sprute, Rosanne, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagüler, Hülya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral, Cirak, Sebahattin

    Published 2019
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