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

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

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

by Uluç Yis, Figen Baydan, Mert Karakaya, Semra Hız Kurul, Sebahattin Cirak
Published 2016-01-01

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

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

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

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

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

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

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

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

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

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

Characterisation and validation of insertions and deletions in 173 patient exomes.

by Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka
Published 2012-01-01