Hasil Pencarian - Sebahattin Cirak

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  1. 1
    What Can We Learn From Clinical Trials of Exon Skipping for DMD?

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

    Diterbitkan 2014-01-01
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  2. 2
    Acanthocytosis and HyperCKemia

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

    Diterbitkan 2018-11-01
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  3. 3
    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 oleh Ugur Akpulat, Haicui Wang, Kerstin Becker, Adriana Contreras, Terence A. Partridge, James S. Novak, Sebahattin Cirak

    Diterbitkan 2018-12-01
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  4. 4
    Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum

    Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum oleh Ceren Günbey, Büşranur Çavdarlı, Rahşan Göçmen, Muharrem Yazıcı, Çağrı Mesut Temuçin, Özkan Özdemir, Sebahattin Çırak, Göknur Haliloğlu

    Diterbitkan 2024-08-01
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  5. 5
    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. oleh Martin Brockington, Silvia Torelli, Paul S Sharp, Ke Liu, Sebahattin Cirak, Susan C Brown, Dominic J Wells, Francesco Muntoni

    Diterbitkan 2010-12-01
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  6. 6
    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 oleh Hormos Salimi Dafsari, Nur Mehpare Kocaturk, Hülya-Sevcan Daimagüler, Anna Brunn, Jörg Dötsch, Joachim Weis, Martina Deckert, Sebahattin Cirak

    Diterbitkan 2019-12-01
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  7. 7
    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 oleh Haicui Wang, Anne Schänzer, Birgit Kampschulte, Hülya-Sevcan Daimagüler, Thushiha Logeswaran, Hannah Schlierbach, Jutta Petzinger, Harald Ehrhardt, Andreas Hahn, Sebahattin Cirak

    Diterbitkan 2018-08-01
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  8. 8
    Shorter Intervals of Antenatal Corticosteroid Administration Can Influence Short- and Long-Term Outcomes in Premature Infants

    Shorter Intervals of Antenatal Corticosteroid Administration Can Influence Short- and Long-Term Outcomes in Premature Infants oleh Katrina Kraft, Lisa Schiefele, Jochen Essers, Miriam Deniz, Arkadius Polasik, Petra Schlanstedt, Harald Bode, Sebahattin Cirak, Thomas W.P. Friedl, Wolfgang Janni, Beate Hüner

    Diterbitkan 2024-04-01
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  9. 9
    Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy

    Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy oleh Wiebke A. Rehorst, Maximilian P. Thelen, Hendrik Nolte, Clara Türk, Sebahattin Cirak, Jonathan M. Peterson, G. William Wong, Brunhilde Wirth, Marcus Krüger, Dominic Winter, Min Jeong Kye

    Diterbitkan 2019-10-01
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  10. 10
    Diffusion tensor imaging in pediatric patients with dystonia

    Diffusion tensor imaging in pediatric patients with dystonia oleh Ricardo Loução, Julia Burkhardt, Jochen Wirths, Christoph Kabbasch, Till A. Dembek, Petra Heiden, Sebahattin Cirak, Bassam Al-Fatly, Harald Treuer, Veerle Visser-Vandewalle, Mauritius Hoevels, Anne Koy

    Diterbitkan 2024-02-01
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  11. 11
    Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.

    Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. oleh Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni

    Diterbitkan 2013-01-01
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  12. 12
    Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

    Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair oleh Hana Hanzlikova, Evgeniia Prokhorova, Katerina Krejcikova, Zuzana Cihlarova, Ilona Kalasova, Jan Kubovciak, Jana Sachova, Richard Hailstone, Jan Brazina, Shereen Ghosh, Sebahattin Cirak, Joseph G. Gleeson, Ivan Ahel, Keith W. Caldecott

    Diterbitkan 2020-07-01
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  13. 13
    Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

    Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle oleh James S. Novak, Marshall W. Hogarth, Jessica F. Boehler, Marie Nearing, Maria C. Vila, Raul Heredia, Alyson A. Fiorillo, Aiping Zhang, Yetrib Hathout, Eric P. Hoffman, Jyoti K. Jaiswal, Kanneboyina Nagaraju, Sebahattin Cirak, Terence A. Partridge

    Diterbitkan 2017-10-01
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  14. 14
    Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

    Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle oleh James S. Novak, Marshall W. Hogarth, Jessica F. Boehler, Marie Nearing, Maria C. Vila, Raul Heredia, Alyson A. Fiorillo, Aiping Zhang, Yetrib Hathout, Eric P. Hoffman, Jyoti K. Jaiswal, Kanneboyina Nagaraju, Sebahattin Cirak, Terence A. Partridge

    Diterbitkan 2018-03-01
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  15. 15
    Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

    Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle oleh James S. Novak, Marshall W. Hogarth, Jessica F. Boehler, Marie Nearing, Maria C. Vila, Raul Heredia, Alyson A. Fiorillo, Aiping Zhang, Yetrib Hathout, Eric P. Hoffman, Jyoti K. Jaiswal, Kanneboyina Nagaraju, Sebahattin Cirak, Terence A. Partridge

    Diterbitkan 2018-01-01
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  16. 16
    Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

    Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking oleh Haicui Wang, Haicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, Rosanne Sprute, Ozkan Ozdemir, Ozkan Ozdemir, Emily Cooper, Matthias Pergande, Matthias Pergande, Stephanie Efthymiou, Ivana Nedic, Neda Mazaheri, Neda Mazaheri, Katharina Stumpfe, Reza Azizi Malamiri, Gholamreza Shariati, Gholamreza Shariati, Jawaher Zeighami, Nurettin Bayram, Seyed Kianoosh Naghibzadeh, Mohamad Tajik, Mehmet Yaşar, Ahmet Sami Güven, Farah Bibi, Tipu Sultan, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro, Henry Houlden, Hüseyin Per, Hamid Galehdari, Bita Shalbafan, Yalda Jamshidi, Sebahattin Cirak, Sebahattin Cirak

    Diterbitkan 2019-10-01
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  17. 17
    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease oleh Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna

    Diterbitkan 2013-06-01
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  18. 18
    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease oleh Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna

    Diterbitkan 2013-07-01
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  19. 19
    Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

    Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis oleh Marcel Naumann, Kevin Peikert, Rene Günther, Anneke J. van derKooi, Eleonora Aronica, Annemarie Hübers, Veronique Danel, Philippe Corcia, Francisco Pan‐Montojo, Sebahattin Cirak, Göknur Haliloglu, Albert C. Ludolph, Anand Goswami, Peter M. Andersen, Johannes Prudlo, Florian Wegner, Philip Van Damme, Jochen H. Weishaupt, Andreas Hermann

    Diterbitkan 2019-12-01
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  20. 20
    Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

    Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies oleh Burcu Ayoglu, Amina Chaouch, Hanns Lochmüller, Luisa Politano, Enrico Bertini, Pietro Spitali, Monika Hiller, Eric H Niks, Francesca Gualandi, Fredrik Pontén, Kate Bushby, Annemieke Aartsma‐Rus, Elena Schwartz, Yannick Le Priol, Volker Straub, Mathias Uhlén, Sebahattin Cirak, Peter A C ‘t Hoen, Francesco Muntoni, Alessandra Ferlini, Jochen M Schwenk, Peter Nilsson, Cristina Al‐Khalili Szigyarto

    Diterbitkan 2014-06-01
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