Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy
Karakaya, Mert, Paketci, Cem, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc, Wirth, Brunhilde
Published in American journal of medical genetics. Part A (01.08.2019)
Published in American journal of medical genetics. Part A (01.08.2019)
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Journal Article
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Ghosh, Shereen G., Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, 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, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, 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, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Journal Article
The genomic and clinical landscape of fetal akinesia
Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
Zebrafish exhibit associative learning for an aversive robotic stimulus
Macrì, Simone, Karakaya, Mert, Spinello, Chiara, Porfiri, Maurizio
Published in Lab animal (01.09.2020)
Published in Lab animal (01.09.2020)
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Journal Article
Ecology of fear in highly invasive fish revealed by robots
Polverino, Giovanni, Soman, Vrishin R., Karakaya, Mert, Gasparini, Clelia, Evans, Jonathan P., Porfiri, Maurizio
Published in iScience (21.01.2022)
Published in iScience (21.01.2022)
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Journal Article
Report of a novel ATP7A mutation causing distal motor neuropathy
Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita, Neri, Marcella, Incensi, Alex, Liguori, Rocco, Storbeck, Markus, Karakaya, Mert, Simioni, Valentina, Squarzoni, Stefano, Timmerman, Vincent, Wirth, Brunhilde, Donadio, Vincenzo, Tugnoli, Valeria, Ferlini, Alessandra
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
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Journal Article
Emergence of in-line swimming patterns in zebrafish pairs
Porfiri, Maurizio, Karakaya, Mert, Sattanapalle, Raghu Ram, Peterson, Sean D.
Published in Flow (Cambridge, England) (01.01.2021)
Published in Flow (Cambridge, England) (01.01.2021)
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Journal Article
Correction: The genomic and clinical landscape of fetal akinesia
Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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Journal Article
Design of Job Assignment and Routing Policies in Service Logistics
Duzgit, Zehra, Toy, Ayhan Özgür, Çoban, Simge, Alibaşoğlu, Zeynep, Tok Özkeskin, Özlem, Karakaya, Mert, Bayrak, Yücel
Published in Mühendislik bilimleri dergisi (01.01.2019)
Published in Mühendislik bilimleri dergisi (01.01.2019)
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Journal Article
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
Mendoza-Ferreira, Natalia, Coutelier, Marie, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Löhr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni, Wirth, Brunhilde
Published in Neurology. Genetics (01.02.2018)
Published in Neurology. Genetics (01.02.2018)
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Journal Article
PRUNE1: a disease-causing gene for secondary microcephaly
Karakaya, Mert, Yilmaz, Sanem, Storbeck, Markus, Hoelker, Irmgard, Heller, Raoul, Serdaroglu, Gül, Gökben, Sarenur, Yis, Uluc, Wirth, Brunhilde
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
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Journal Article
Has the COVID-19 pandemic negatively impacted children's development? An assessment of the neurodevelopment of premature babies born during the pandemic
Ömercioğlu, Emel, Mert Karakaya, Ece Naz, Özdemir, Gökçenur, Şencan Karakuş, Buse, Kılınç, Şeyma, İskender, H Ceren, Cihan Çam, Ebru, Mete Yeşil, Ayşe, Çelik, Hasan Tolga, Karahan, Sevilay, Özmert, Elif N
Published in The Turkish journal of pediatrics (01.05.2024)
Published in The Turkish journal of pediatrics (01.05.2024)
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Journal Article
Acute Citalopram administration modulates anxiety in response to the context associated with a robotic stimulus in zebrafish
Karakaya, Mert, Scaramuzzi, Andrea, Macrì, Simone, Porfiri, Maurizio
Published in Progress in neuro-psychopharmacology & biological psychiatry (08.06.2021)
Published in Progress in neuro-psychopharmacology & biological psychiatry (08.06.2021)
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