未登录 Efficacy fi cacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study Weiss, Claudia; Becker, Lena-Luise; Friese, Johannes; Blaschek, Astrid; Hahn, Andreas; Illsinger, Sabine; Schwartz, Oliver; Bernert, Guenther; von der Hagen, Maja; Husain, Ralf A.; Goldhahn, Klaus; Kirschner, Janbernd; Pechmann, Astrid; Flotats-Bastardas, Marina; Schreiber, Gudrun; Schara, Ulrike; Plecko, Barbara; Trollmann, Regina; Horber, Veronka; Wilichowski, Ekkehard; Baumann, Matthias; Klein, Andrea; Eisenkoelbl, Astrid; Koehler, Cornelia; Stettner, Georg M.; Cirak, Sebahattin; Hasselmann, Oswald; Kaindl, Angela M.; Garbade, Sven F.; Johannsen, Jessika; Ziegler, Andreas 分享 收藏
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiss, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Koelbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Koehler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkoelbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Glaeser, Dieter; Bernert, Guenther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmueller, Hanns; Mueller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C.; Kirschner, Janbernd; Pechmann, Astrid; SMARTCARE Study Group 分享 收藏
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiss, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Koelbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Koehler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkoelbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Glaeser, Dieter; Bernert, Guenther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmueller, Hanns; Mueller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C.; Kirschner, Janbernd; Pechmann, Astrid 分享 收藏
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Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders Thiel, Moritz; Bamborschke, Daniel; Janzarik, Wibke G.; Assmann, Birgit; Zittel, Simone; Patzer, Steffi; Auhuber, Andrea; Opp, Joachim; Matzker, Eva; Bevot, Andrea; Seeger, Juergen; van Baalen, Andreas; Stueve, Burkhard; Brockmann, Knut; Cirak, Sebahattin; Koy, Anne 分享 收藏
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany 新生儿筛查SMA-从试点项目到德国的全国筛查 Muller-Felber, Wolfgang; Blaschek, Astrid; Schwartz, Oliver; Glaser, Dieter; Nennstiel, Uta; Brockow, Inken; Wirth, Brunhilde; Burggraf, Siegfried; Roschinger, Wulf; Becker, Marc; Durner, Jurgen; Eggermann, Katja; Kolbel, Heike; Muller, Christine; Hannibal, Iris; Olgemoller, Bernd; Schara, Ulrike; von Moers, Arpad; Trollmann, Regina; Johannssen, Jessika; Ziegler, Andreas; Cirak, Sebahattin; Hahn, Andreas; von Der Hagen, Maja; Weiss, Claudia; Schreiber, Gudrun; Flotats-Bastardas, Marina; Hartmann, Hans; Illsinger, Sabine; Pechmann, Astrid; Horber, Veronka; Kirschner, Jan; Kohler, Cornelia; Winter, Benedikt; Friese, Johannes; Vill, Katharina 分享 收藏
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018) 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; Pisciotta, Livia; De Grandis, Elisa; Altmuller, Janine; Weixler, Lisa; Nurnberg, 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. 分享 收藏
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Making sense of missense variants in TTN-related congenital myopathies 了解TTN相关先天性肌病的错义变异 Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joel; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schroeder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A.; Wilichowski, Ekkehard; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Dominguez-Gonzalez, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias 分享 收藏
The genomic and clinical landscape of fetal akinesia (vol 22, pg 511, 2020) Pergande, Matthias; Motameny, Susanne; Ozdemir, Ozkan; Kreutzer, Mona; Wang, Haicui; Daimaguler, Huelya-Sevcan; Becker, Kerstin; Karakaya, Mert; Ehrhardt, Harald; Elcioglu, Nursel; Ostojic, Slavica; Chao, Cho-Ming; Kawalia, Amit; Duman, Ozgur; Koy, Anne; Hahn, Andreas; Reimann, Jens; Schoner, Katharina; Schanzer, Anne; Westhoff, Jens H.; Schwaibold, Eva Maria Christina; Cossee, Mireille; Imbert-Bouteille, Marion; von Pein, Harald; Haliloglu, Goknur; Topaloglu, Haluk; Altmuller, Janine; Nurnberg, Peter; Thiele, Holger; Heller, Raoul; Cirak, Sebahattin 分享 收藏
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair Hanzlikova, Hana; Prokhorova, Evgeniia; Krejcikova, Katerina; Cihlarova, Zuzana; Kalasova, Ilona; Kubovciak, Jan; Sachova, Jana; Hailstone, Richard; Brazina, Jan; Ghosh, Shereen; Cirak, Sebahattin; Gleeson, Joseph G.; Ahel, Ivan; Caldecott, Keith W. 分享 收藏
The genomic and clinical landscape of fetal akinesia Pergande, Matthias; Motameny, Susanne; Oezdemir, Oezkan; Kreutzer, Mona; Wang, Haicui; Daimagueler, Huelya-Sevcan; Becker, Kerstin; Karakaya, Mert; Ehrhardt, Harald; 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; Heller, Raoul; Cirak, Sebahattin 分享 收藏
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Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis Naumann, Marcel; Peikert, Kevin; Guenther, Rene; van der Kooi, Anneke J.; Aronica, Eleonora; Huebers, Annemarie; Danel, Veronique; Corcia, Philippe; Pan-Montojo, Francisco; Cirak, Sebahattin; Haliloglu, Goeknur; Ludolph, Albert C.; Goswami, Anand; Andersen, Peter M.; Prudlo, Johannes; Wegner, Florian; Van Damme, Philip; Weishaupt, Jochen H.; Hermann, Andreas 分享 收藏
Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy Rehorst, Wiebke A.; Thelen, Maximilian P.; Nolte, Hendrik; Tuerk, Clara; Cirak, Sebahattin; Peterson, Jonathan M.; Wong, G. William; Wirth, Brunhilde; Krueger, Marcus; Winter, Dominic; Kye, Min Jeong 分享 收藏
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking 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; Cirak, Sebahattin 分享 收藏
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Low-frequency variation in TP53 has large effects on head circumference and intracranial volume TP53的低频变异对头围和颅内容积有很大影响 Haworth, Simon; Shapland, Chin Yang; Hayward, Caroline; Prins, Bram P.; Felix, Janine F.; Medina-Gomez, Carolina; Rivadeneira, Fernando; Wang, Carol; Ahluwalia, Tarunveer S.; Vrijheid, Martine; Guxens, Monica; Sunyer, Jordi; Tachmazidou, Ioanna; Walter, Klaudia; Iotchkova, Valentina; Jackson, Andrew; Cleal, Louise; Huffmann, Jennifer; Min, Josine L.; Sass, Laerke; Timmers, Paul R. H. J.; Al Turki, Saeed; Anderson, Carl A.; Anney, Richard; Antony, Dinu; Artigas, Maria Soler; Ayub, Muhammad; Bala, Senduran; Barrett, Jeffrey C.; Barroso, Ines; Beales, Phil; Bentham, Jamie; Bhattacharya, Shoumo; Birney, Ewan; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; Bolton, Patrick F.; Bounds, Rebecca; Boustred, Chris; Breen, Gerome; Calissano, Mattia; Carss, Keren; Charlton, Ruth; Chatterjee, Krishna; Chen, Lu; Ciampi, Antonio; Cirak, Sebahattin; Clapham, Peter; Clement, Gail; Coates, Guy; Cocca, Massimiliano; Collier, David A.; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Curtis, David; Daly, Allan; Danecek, Petr; Day, Ian N. M.; Day-Williams, Aaron; Dominiczak, Anna; Down, Thomas; Du, Yuanping; Dunham, Ian; Durbin, Richard; Edkins, Sarah; Ekong, Rosemary; Ellis, Peter; Evans, David M.; Farooqi, I. Sadaf; Fitzpatrick, David R.; Flicek, Paul; Floyd, James; Foley, A. Reghan; Franklin, Christopher S.; Futema, Marta; Gallagher, Louise; Gaunt, Tom R.; Geihs, Matthias; Geschwind, Daniel; Greenwood, Celia M. T.; Griffin, Heather; Grozeva, Detelina; Guo, Xiaosen; Guo, Xueqin; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey E.; Holmans, Peter; Howie, Bryan; Huang, Jie; Huang, Liren; Hubbard, Tim; Humphries, Steve E.; Hurles, Matthew E.; Hysi, Pirro; Jackson, David K.; Jamshidi, Yalda; Joyce, Chris; Karczewski, Konrad J.; Kaye, Jane; Keane, Thomas; Kemp, John P.; Kennedy, Karen; Kent, Alastair; Keogh, Julia; Khawaja, Farrah; van Kogelenberg, Margriet; Kolb-Kokocinski, Anja; Lachance, Genevieve; Langford, Cordelia; Lawson, Daniel; Lee, Irene; Lek, Monkol; Li, Rui; Li, Yingrui; Liang, Jieqin; Lin, Hong; Liu, Ryan; Lonnqvist, Jouko; Lopes, Luis R.; Lopes, Margarida; MacArthur, Daniel G.; Mangino, Massimo; Marchini, Jonathan; Marenne, Gaelle; Maslen, John; Mathieson, Iain; McCarthy, Shane; McGuffin, Peter; McIntosh, Andrew M.; McKechanie, Andrew G.; McQuillin, Andrew; Memari, Yasin; Metrustry, Sarah; Migone, Nicola; Mitchison, Hannah M.; Moayyeri, Alireza; Morris, Andrew; Morris, James; Muddyman, Dawn; Muntoni, Francesco; Northstone, Kate; O'Donovan, Michael C.; O'Rahilly, Stephen; Onoufriadis, Alexandros; Oualkacha, Karim; Owen, Michael J.; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy R.; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Payne, Stewart J.; Perry, John R. B.; Pietilainen, Olli; Plagnol, Vincent; Pollitt, Rebecca C.; Porteous, David J.; Povey, Sue; Quail, Michael A.; Quaye, Lydia; Raymond, F. Lucy; Rehnstrom, Karola; Richards, J. Brent; Ridout, Cheryl K.; Ring, Susan; Ritchie, Graham R. S.; Roberts, Nicola; Robinson, Rachel L.; Savage, David B.; Scambler, Peter; Schiffels, Stephan; Schmidts, Miriam; Schoenmakers, Nadia; Scott, Richard H.; Semple, Robert K.; Serra, Eva; Sharp, Sally I.; Shaw, Adam; Shihab, Hashem A.; Shin, So-Youn; Skuse, David; Small, Kerrin S.; Smee, Carol; Smith, Blair H.; Soranzo, Nicole; Southam, Lorraine; Spasic-Boskovic, Olivera; Spector, Timothy D.; St Clair, David; Stalker, Jim; Stevens, Elizabeth; Sun, Jianping; Surdulescu, Gabriela; Suvisaari, Jaana; Syrris, Petros; Taylor, Rohan; Tian, Jing; Tobin, Martin D.; Valdes, Ana M.; Vandersteen, Anthony M.; Vijayarangakannan, Parthiban; Visscher, Peter M.; Wain, Louise V.; Walters, James T. R.; Wang, Guangbiao; Wang, Jun; Wang, Yu; Ward, Kirsten; Wheeler, Eleanor; Whyte, Tamieka; Williams, Hywel J.; Williamson, Kathleen A.; Wilson, Crispian; Wilson, Scott G.; Wong, Kim; Xu, ChangJiang; Yang, Jian; Zhang, Feng; Zhang, Pingbo; Zheng, Hou-Feng; Smith, George Davey; Fisher, Simon E.; Wilson, James F.; Cole, Tim J.; Fernandez-Orth, Dietmar; Bonnelykke, Klaus; Bisgaard, Hans; Pennell, Craig E.; Jaddoe, Vincent W. V.; Dedoussis, George; Timpson, Nicholas; Zeggini, Eleftheria; Vitart, Veronique; St Pourcain, Beate 分享 收藏
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