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收藏分享 收藏 分享 收藏 Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
Distelmaier, Felix; Sezer, Abdullah; Helm, Christina; Waldmueller, Stephan; Seibt, Annette; Gangfuss, Andrea; Koelbel, Heike; Schara-Schmidt, Ulrike; Yuksel, Deniz; Talim, Beril; Mayatepek, Ertan; Nikolin, Stefan; Weis, Joachim; Roos, Andreas; Haack, Tobias B. 分享 收藏 分享 收藏 分享 收藏 Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyWong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Isikay, Sedat; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno 分享 收藏 Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (vol 108, pg 1301, 2021)Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Thanh Thao Nguyen Ly; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Ikay, Sedat Is Comma; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno 分享 收藏 Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium fluxKurekci, Gulsum Kayman; Mangit, Ecem Kural; Koyunlar, Cansu; Unsal, Seyda; Saglam, Berk; Ergin, Bora; Gizer, Merve; Uyanik, Ismail; Duz, Niloufar Boustanabadimaralan; Korkusuz, Petek; Talim, Beril; Purali, Nuhan; Hughes, Simon M.; Dincer, Pervin R. 分享 收藏 Inflammatory milieu of muscle biopsies in juvenile dermatomyositisSag, Erdal; Kale, Gulsev; Haliloglu, Goknur; Bilginer, Yelda; Akcoren, Zuhal; Orhan, Diclehan; Gucer, Safak; Topaloglu, Haluk; Ozen, Seza; Talim, Beril 分享 收藏 Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency (vol 99, pg 69, 2019)Yildiz, Yilmaz; Talim, Beril; Haliloglu, Goknur; Topaloglu, Haluk; Akcoren, Zuhal; Dursun, Ali; Sivri, Hatice Serap; Coskun, Turgay; Tokatli, Aysegul 分享 收藏 分享 收藏 Bi-allelic mutations in MYL1 cause a severe congenital myopathyRavenscroft, Gianina; Zaharieva, Irina T.; Bortolotti, Carlo A.; Lambrughi, Matteo; Pignataro, Marcello; Borsari, Marco; Sewry, Caroline A.; Phadke, Rahul; Haliloglu, Goknur; Ong, Royston; Goullee, Hayley; Whyte, Tamieka; Manzur, Adnan; Talim, Beril; Kaya, Ulkuhan; Osborn, Daniel P. S.; Forrest, Alistair R. R.; Laing, Nigel G.; Muntoni, Francesco 分享 收藏 Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization氧化还原酶PYROXD1的变体会导致早发性肌病，并伴有内在化的核和肌原纤维紊乱O'Grady, Gina L.; Best, Heather A.; Sztal, Tamar E.; Schartner, Vanessa; Sanjuan-Vazquez, Tvlyriam; Donkervoort, Sandra; Neto, Osorio Abath; Sutton, Roger Bryan; Ilkovski, Biljana; Romero, Norma Beatriz; Stojkovic, Tanya; Dastgir, Jahannaz; Waddell, Leigh B.; Boland, Anne; Hu, Ying; Williams, Caitlin; Ruparelia, Avnika A.; Maisonobe, Thierry; Peduto, Anthony J.; Reddel, Stephen W.; Lek, Monkol; Tukiainen, Tam; Cummings, Beryl B.; Joshi, Himanshu; Nectoux, Juliette; Brammah, Susan; Deleuze, Jean-Francois; Ing, Viola Oorschot; Ramm, Georg; Ardicli, Didem; Nowak, Kristen J.; Talim, Beril; Topaloglu, Haluk; Laing, Nigel G.; North, Kathryn N.; MacArthur, Daniel G.; Friant, Sylvie; Clarke, Nigel F.; Bryson-Richardson, Robert J.; Bonnemann, Carsten G.; Laporte, Jocelyn; Cooper, Sandra T. 分享 收藏 Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyOlsen, Rikke K. J.; Konarikova, Eliska; Giancaspero, Teresa A.; Mosegaard, Signe; Boczonadi, Veronika; Matakovic, Lavinija; Veauville-Merllie, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B.; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez-Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey-Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F.; Konstantopoulou, Vassiliki; Moslinger, Dorothea; Feichtinger, Rene G.; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazza, Daniela; Zollino, Marcella; Ghezzi, Daniele; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M.; Gregersen, Niels; Mayr, Johannes A.; Horvath, Rita; Barile, Maria; Prokisch, Holger 分享 收藏 Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthTodd, Emily J.; Yau, Kyle S.; Ong, Royston; Slee, Jennie; McGillivray, George; Barnett, Christopher P.; Haliloglu, Goknur; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel F.; Freckmann, Mary-Louise; Romero, Norma B.; Williams, Denise; Sewry, Caroline A.; Colley, Alison; Ryan, Monique M.; Kiraly-Borri, Cathy; Sivadorai, Padma; Allcock, Richard J. N.; Beeson, David; Maxwell, Susan; Davis, Mark R.; Laing, Nigel G.; Ravenscroft, Gianina 分享 收藏 分享 收藏 SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated CardiomyopathyAgrawal, Pankaj B.; Pierson, Christopher R.; Joshi, Mugdha; Liu, Xiaoli; Ravenscroft, Gianina; Moghadaszadeh, Behzad; Talabere, Tiffany; Viola, Marissa; Swanson, Lindsay C.; Haliloglu, Goknur; Talim, Beril; Yau, Kyle S.; Allcock, Richard J. N.; Laing, Nigel G.; Perrella, Mark A.; Beggs, Alan H. 分享 收藏 Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex DeficienciesTaylor, Robert W.; Pyle, Angela; Griffin, Helen; Blakely, Emma L.; Duff, Jennifer; He, Langping; Smertenko, Tania; Alston, Charlotte L.; Neeve, Vivienne C.; Best, Andrew; Yarham, John W.; Kirschner, Janbernd; Schara, Ulrike; Talim, Beril; Topaloglu, Haluk; Baric, Ivo; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Kleinle, Stephanie; Morris, Andrew A. M.; Vassallo, Grace; Gorman, Grainne S.; Ramesh, Venkateswaran; Turnbull, Douglass M.; Santibanez-Koref, Mauro; McFarland, Robert; Horvath, Rita; Chinnery, Patrick F. 分享 收藏 Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseChauveau, Claire; Bonnemann, Carsten G.; Julien, Cedric; Kho, Ay Lin; Marks, Harold; Talim, Beril; Maury, Philippe; Arne-Bes, Marie Christine; Uro-Coste, Emmanuelle; Alexandrovich, Alexander; Vihola, Anna; Schafer, Sebastian; Kaufmann, Beth; Medne, Livija; Huebner, Norbert; Foley, A. Reghan; Santi, Mariarita; Udd, Bjarne; Topaloglu, Haluk; Moore, Steven A.; Gotthardt, Michael; Samuels, Mark E.; Gautel, Mathias; Ferreiro, Ana 分享 收藏 
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