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Number of items: 11.

Journal Article

Akpulat, Ugur, Wang, Haicui, Becker, Kerstin, Contreras, Adriana, Partridge, Terence A., Novak, James S. and Cirak, Sebahattin (2018). Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD. Mol. Ther.-Nucl. Acids, 13. S. 534 - 543. CAMBRIDGE: CELL PRESS. ISSN 2162-2531

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am. J. Hum. Genet., 103 (3). S. 431 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Karaoglu, Pakize, Quizon, Nicolas, Pergande, Matthias, Wang, Haicui, Polat, Ayse Ipek, Ersen, Ayca, Ozer, Erdener, Willkomm, Lena, Kurul, Semra Hiz, Heredia, Raul, Yis, Uluc, Selcen, Duygu and Cirak, Sebahattin (2017). Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. Brain Dev., 39 (4). S. 361 - 365. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131

Okur, Derya, Daimaguler, Hulya Sevcan, Danyeli, Ayca Ersen, Tekgul, Hasan, Wang, Haicui, Wunderlich, Gilbert, Cirak, Sebahattin and Yis, Uluc (2019). Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia. Turk. J. Pediatr., 61 (6). S. 931 - 937. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301

Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin (2020). The genomic and clinical landscape of fetal akinesia. Genet. Med., 22 (3). S. 511 - 524. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Sprute, Rosanne ORCID: 0000-0003-2457-6437, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagueler, Hulya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral and Cirak, Sebahattin (2019). Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature. Hum. Genom. Var., 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2054-345X

Wang, Haicui, Bayram, Ayse Kacar, Sprute, Rosaenn, Ozdemir, Ozkan, Cooper, Emily, Pergande, Matthias, Efthymiou, Stephanie, Nedic, Ivana, Mazaheri, Neda, Stumpfe, Katharina, Malamiri, Reza Azizi, Shariati, Gholamreza, Zeighami, Jawaher, Bayram, Nurettin, Naghibzadeh, Seyed Kianoosh, Tajik, Mohamad, Yasar, Mehmet, Guven, Ahmet Sami, Bibi, Farah, Sultan, Tipu, Salpietro, Vincenzo, Houlden, Henry, Per, Huseyin, Galehdari, Hamid, Shalbafan, Bita, Jamshidi, Yalda ORCID: 0000-0003-0151-6482 and Cirak, Sebahattin (2019). Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking. Front. Neurosci., 13. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-453X

Wang, Haicui, Castiglioni, Claudia ORCID: 0000-0002-1981-7550, Bayram, Ayse Kacar, Fattori, Fabiana ORCID: 0000-0002-1820-8489, Pekuz, Serdar, Araneda, Diego, Per, Huseyin, Erazo, Ricardo, Gumus, Hakan, Zorludemir, Suzan, Becker, Kerstin, Ortega, Ximena, Alfredo Bevilacqua, Jorge, Bertini, Enrico ORCID: 0000-0001-9276-4590 and Cirak, Sebahattin (2017). Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. Neuromusc. Disord., 27 (9). S. 836 - 843. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Wang, Haicui, Salter, Claire G., Refai, Osama ORCID: 0000-0002-5870-5236, Hardy, Holly, Barwick, Katy E. S., Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A., Harlalka, Gaurav, Taylan, Fulya ORCID: 0000-0002-2907-0235, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H., Karakaya, Mert, Stueve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A., Abdul-Rahman, Omar A., Chilton, John, Blakely, Randy D., Baple, Emma L., Cirak, Sebahattin and Crosby, Andrew H. (2017). Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain, 140. S. 2838 - 2851. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Wang, Haicui, Schaenzer, Anne, Kampschulte, Birgit, Daimagueler, Huelya-Sevcan, Logeswaran, Thushiha, Schlierbach, Hannah, Petzinger, Jutta, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Hahn, Andreas and Cirak, Sebahattin (2018). A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. Acta Neuropathol. Commun., 6. LONDON: BMC. ISSN 2051-5960

Willkomm, Lena, Heredia, Raul, Hoffmann, Katrin, Wang, Haicui, Voit, Thomas, Hoffman, Eric P. and Cirak, Sebahattin (2016). Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. J. Hum. Genet., 61 (6). S. 571 - 574. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

This list was generated on Sun Apr 11 02:48:54 2021 CEST.