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

by Qi-long Lu, Sebahattin Cirak, Terence Partridge
Published 2014-01-01

Acanthocytosis and HyperCKemia

by Uluç Yiş, Kerstin Becker, Şebnem Yılmaz Bengoa, Sebahattin Çırak
Published 2018-11-01

Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD

by Ugur Akpulat, Haicui Wang, Kerstin Becker, Adriana Contreras, Terence A. Partridge, James S. Novak, Sebahattin Cirak
Published 2018-12-01

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.

by Martin Brockington, Silvia Torelli, Paul S Sharp, Ke Liu, Sebahattin Cirak, Susan C Brown, Dominic J Wells, Francesco Muntoni
Published 2010-12-01

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

by Hormos Salimi Dafsari, Nur Mehpare Kocaturk, Hülya-Sevcan Daimagüler, Anna Brunn, Jörg Dötsch, Joachim Weis, Martina Deckert, Sebahattin Cirak
Published 2019-12-01

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

by Haicui Wang, Anne Schänzer, Birgit Kampschulte, Hülya-Sevcan Daimagüler, Thushiha Logeswaran, Hannah Schlierbach, Jutta Petzinger, Harald Ehrhardt, Andreas Hahn, Sebahattin Cirak
Published 2018-08-01

Shorter Intervals of Antenatal Corticosteroid Administration Can Influence Short- and Long-Term Outcomes in Premature Infants

by Katrina Kraft, Lisa Schiefele, Jochen Essers, Miriam Deniz, Arkadius Polasik, Petra Schlanstedt, Harald Bode, Sebahattin Cirak, Thomas W.P. Friedl, Wolfgang Janni, Beate Hüner
Published 2024-04-01

Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy

by Christina Stark MSc, Ibrahim Duran MD, Sebahattin Cirak MD, Dipl-Chem, Stefanie Hamacher MSc, Heike-Katharina Hoyer-Kuhn MD, Oliver Semler MD, Eckhard Schoenau MD
Published 2018-06-01

Diffusion tensor imaging in pediatric patients with dystonia

by 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
Published 2024-02-01

Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy

by 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
Published 2019-10-01

Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.

by 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
Published 2013-01-01

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

by 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
Published 2020-07-01

Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

by 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
Published 2018-03-01

Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

by 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
Published 2018-01-01

Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

by 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
Published 2017-10-01

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

by 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
Published 2019-10-01

A Homozygous <i>AKNA</i> Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

by Syeda Seema Waseem, Abubakar Moawia, Birgit Budde, Muhammad Tariq, Ayaz Khan, Zafar Ali, Sheraz Khan, Maria Iqbal, Naveed Altaf Malik, Saif ul Haque, Janine Altmüller, Holger Thiele, Muhammad Sajid Hussain, Sebahattin Cirak, Shahid Mahmood Baig, Peter Nürnberg
Published 2021-09-01

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

by 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
Published 2013-06-01

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

by 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
Published 2013-07-01

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

by 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
Published 2019-12-01