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Nina Barišić

polyclinic aviva zagreb

39H指数
269论文数
5.4K被引数
收录论文 34
发表时间
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱
err2026-04-15
err0
errOAAI
errFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
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High association of MOG-IgG antibodies in children with bilateral optic neuritis (vol 27, pg 86, 2020)MOG-IgG抗体在儿童双侧视神经炎中具有高度关联性(卷27,页86,2020)
err2025-11-01
err0
PREAI
errWendel, Eva-Maria; Baumann, Matthias; Barisic, Nina; Blaschek, Astrid; Koch, Eliana Coelho De Oliveira; Della Marina, Adela; Diepold, Katharina; Hackenberg, Annette; Hahn, Andreas; von Kalle, Thekla; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Leiz, Steffen; Merkenschlager, Andreas; Nosadini, Margherita; Schanda, Kathrin; Schimmel, Mareike; Seemann, Larissa; Tungler, Victoria; Waltz, Stephan; Wegener-Panzer, Andreas; Wiegand, Gert; Reindl, Markus; Rostasy, Kevin
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The genetic and phenotypic spectrum of GABRB1-related disorders
errBrain
IF11.7
err2025-06-05
err0
errOAAI
errCharissa Millevert; Anthony Sze Hon Kan; Moritz Hanke; Mahmoud Koko; Maryam Erfanian Omidvar; Ulrike B S Hedrich; Thomas V Wuttke; Nina Barišić; Lieven Lagae; Ángel Aledo-Serrano; Eva-Maria Niehoff; Konrad Platzer; Pia Zacher; Tilman Polster; Robertino Dilena; Edoardo Monfrini; David Geneviève; Agathe Roubertie; Ange-Line Bruel; Frederic Tran Mau-Them; Majed Dasouki; Stacey Cohen; Ingo Helbig; Alicia G Harrison; Collin Ellis; Holly A Dubbs; Eric D Marsh; Sébastien Lebon; Na He; Heng Meng; Mary Chebib; Rikke S Møller; Carla Marini; Philip K Ahring; Holger Lerche; Sarah Weckhuysen
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Children with MOG-IgG positive bilateral optic neuritis misdiagnosed as fulminant idiopathic intracranial hypertensionMOG-IgG阳性的儿童双侧视神经炎被误诊为暴发性特发性颅内高压
err2025-01-01
err0
PREAI
errWendel, Eva-Maria; Tibussek, Daniel; Barisic, Nina; Bertolini, Annikki; Panzer, Andreas; Chang, Petrus; Geis, Tobias; Knierim, Ellen; Nikolaus, Marc; Nosadini, Margherita; Sartori, Stefano; Schoene-Bake, Jan-Christoph; Yilmaz, Deniz; Reindl, Markus; Pakeerathan, Thivya; Ayzenberg, Ilya; Rostasy, Kevin
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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeRNF213的De novo变异与从Leigh综合征到早发性中风的临床范围相关
err2024-02-01
err5
PREAI
errBrunet, Theresa; Zott, Benedikt; Lieftuchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Huning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; MihaljeviC, Mihaela; Barisic, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T.; Driemeyer, Joenna; Apitz, Christian; Kramer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A.; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias
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Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy脊髓性肌萎缩症的诊断、预后及药效学分子生物标志物
err2023-08-01
err8
errOAAI
errBabic, Marija; Banovic, Maria; Berecic, Ivana; Banic, Tea; Babic Leko, Mirjana; Ulamec, Monika; Junakovic, Alisa; Kopic, Janja; Sertic, Jadranka; Barisic, Nina; Simic, Goran
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Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder接触蛋白相关蛋白样2 (CNTNAP-2) 发育障碍的基因型-表型相关性
err2023-05-14
err8
errOAAI
errD'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Caliskan, Haluk; Kokotovic, Tomislav; Blazekovic, Antonela; Jercic, Kristina Gotovac; Markovic, Silvana; Zigman, Tamara; Goran, Krnjak; Barisic, Nina; Duranovic, Vlasta; Ban, Ana; Borovecki, Fran; Ramadza, Danijela Petkovic; Baric, Ivo; Fazeli, Walid; Herkenrath, Peter; Marini, Carla; Vittorini, Roberta; Gowda, Vykuntaraju; Bouman, Arjan; Rocca, Clarissa; Alkhawaja, Issam Azmi; Murtaza, Bibi Nazia; Rehman, Malik Mujaddad Ur; Al Alam, Chadi; Nader, Gisele; Mancardi, Maria Margherita; Giacomini, Thea; Srivastava, Siddharth; Alvi, Javeria Raza; Tomoum, Hoda; Matricardi, Sara; Iacomino, Michele; Riva, Antonella; Scala, Marcello; Madia, Francesca; Pistorio, Angela; Salpietro, Vincenzo; Minetti, Carlo; Riviere, Jean-Baptiste; Srour, Myriam; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Vernes, Sonja Catherine; Zara, Federico; Striano, Pasquale; Nagy, Vanja
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Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen
err2022-12-13
err7
errOAAI
errSimic, Goran; Vukic, Vana; Babic, Marija; Banovic, Maria; Berecic, Ivana; Spanic, Ena; Zubcic, Klara; Golubic, Anja Tea; Kutija, Marija Barisic; Sorgic, Ana Merkler; Vogrinc, Zeljka; Lehman, Ivan; Hof, Patrick R.; Sertic, Jadranka; Barisic, Nina
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Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome
err2022-11-01
err30
errOAAI
errWendel, Eva Maria; Thonke, Helen Sophie; Bertolini, Annikki; Baumann, Matthias; Blaschek, Astrid; Merkenschlager, Andreas; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Pohl, Daniela; Pritsch, Martin; Schanda, Kathrin; Schimmel, Mareike; Thiels, Charlotte; Waltz, Stephan; Wiegand, Gert; Anlar, Banu; Barisic, Nina; Blank, Christian; Breu, Markus; Broser, Philip; Della Marina, Adela; Diepold, Katharina; Eckenweiler, Matthias; Eisenkoelbl, Astrid; Freilinger, Michael; Gruber-Sedlmayr, Ursula; Hackenberg, Annette; Iff, Tobias; Knierim, Ellen; Koch, Johannes; Kutschke, Georg; Leiz, Steffen; Lischetzki, Grischa; Nosadini, Margherita; Pschibul, Alexander; Reiter-Fink, Edith; Rohrbach, Doris; Salandin, Michela; Sartori, Stefano; Schlump, Jan-Ulrich; Stoffels, Johannes; Strautmanis, Jurgis; Tibussek, Daniel; Tuengler, Victoria; Utzig, Norbert; Reindl, Markus; Rostasy, Kevin
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Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease儿科charcot-marie-tooth病管理的临床实践指南
err2022-02-09
err16
PREAI
errYiu, Eppie M.; Bray, Paula; Baets, Jonathan; Baker, Steven K.; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A.; Finkel, Richard S.; Haberlova, Jana; Kennedy, Rachel A.; Moroni, Isabella; Nicholson, Garth A.; Ramchandren, Sindhu; Reilly, Mary M.; Rose, Kristy; Shy, Michael E.; Siskind, Carly E.; Yum, Sabrina W.; Menezes, Manoj P.; Ryan, Monique M.; Burns, Joshua
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals亚基因不耐受,ClinVar和癫痫: 29,165个人的全外显子组测序研究
err2021-06-01
err43
errOAAI
errMotelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leu, Costin; Leech, Stephanie L.; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, Andre; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva M.; Kunz, Wolfram S.; Zsurka, Gabor; Surges, Rainer; Baumgartner, Tobias; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Muller-Schluter, Karen; Kluger, Gerhard; Haeusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggraefe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Veronique; Chassoux, Francine; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barisi, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Zgheib, Nathalie Khoueiry; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Topaloglu, Pinar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B.
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Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants inSLC13A5gene由slc13a5基因的常染色体隐性变异引起的新生儿发育性和癫痫性脑病
err2020-10-16
err33
errOAAI
errMatricardi, Sara; De Liso, Paola; Freri, Elena; Costa, Paola; Castellotti, Barbara; Magri, Stefania; Gellera, Cinzia; Granata, Tiziana; Musante, Luciana; Lesca, Gaetan; Oertel, Julie; Craiu, Dana; Hammer, Trine B.; Moller, Rikke S.; Barisic, Nina; Abou Jamra, Rami; Polster, Tilman; Vigevano, Federico; Marini, Carla
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyAP2M1中的复发性错义变体会损害网格蛋白介导的内吞作用,并导致发育性和癫痫性脑病
err2019-06-01
err76
errOAAI
errHelbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L.; Haucke, Volker; Weber, Yvonne G.; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter
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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
err2019-02-12
err44
errOAAI
errSiekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter
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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
errBRAIN
IF11.7
err2015-09-17
err72
errOAAI
errHardies, Katia; de Kovel, Carolien G. F.; Weckhuysen, Sarah; Asselbergh, Bob; Geuens, Thomas; Deconinck, Tine; Azmi, Abdelkrim; May, Patrick; Brilstra, Eva; Becker, Felicitas; Barisic, Nina; Craiu, Dana; Braun, Kees P. J.; Lal, Dennis; Thiele, Holger; Schubert, Julian; Weber, Yvonne; van't Slot, Ruben; Nuernberg, Peter; Balling, Rudi; Timmerman, Vincent; Lerche, Holger; Maudsley, Stuart; Helbig, Ingo; Suls, Arvid; Koeleman, Bobby P. C.; De Jonghe, Peter
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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
err2015-03-17
err560
errOAAI
errBladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barisic, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C.; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaida; van den Bergen, Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Janusz; Santos, Rosario; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Diaz-Manera, Jordi; Gallardo, Eduard; Karaduman, A. Ayse; Topaloglu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Kirschner, Jan; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Beroud, Christophe; Lochmueller, Hanns
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The phenotypic spectrum of SCN8A encephalopathy
err2015-02-03
err252
errOAAI
errLarsen, Jan; Carvill, Gemma L.; Gardella, Elena; Kluger, Gerhard; Schmiedel, Gudrun; Barisic, Nina; Depienne, Christel; Brilstra, Eva; Mang, Yuan; Nielsen, Jens Erik Klint; Kirkpatrick, Martin; Goudie, David; Goldman, Rebecca; Jaehn, Johanna A.; Jepsen, Birgit; Gill, Deepak; Doecker, Miriam; Biskup, Saskia; McMahon, Jacinta M.; Koeleman, Bobby; Harris, Mandy; Braun, Kees; de Kovel, Carolien G. F.; Marini, Carla; Specchio, Nicola; Djemie, Tania; Weckhuysen, Sarah; Tommerup, Niels; Troncoso, Monica; Troncoso, Ledia; Bevot, Andrea; Wolff, Markus; Hjalgrim, Helle; Guerrini, Renzo; Scheffer, Ingrid E.; Mefford, Heather C.; Moller, Rikke S.
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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
err2013-11-01
err197
errOAAI
errSuls, Arvid; Jaehn, Johanna A.; Kecskes, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djemie, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, Jose; Lemke, Johannes R.; Hoffman-Zacharska, Dorota; Szczepanik, Elzbieta; Barisic, Nina; Komarek, Vladimir; Hjalgrim, Helle; Moller, Rikke S.; Linnankivi, Tarja; Dimova, Petia; Striano, Pasquale; Zara, Federico; Marini, Carla; Guerrini, Renzo; Depienne, Christel; Baulac, Stephanie; Kuhlenbaeumer, Gregor; Crawford, Alexander D.; Lehesjoki, Anna-Elina; de Witte, Peter A. M.; Palotie, Aarno; Lerche, Holger; Esguerra, Camila V.; De Jonghe, Peter; Helbig, Ingo
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The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
err2013-08-26
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errBladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angelica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Barisic, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery-Giraud, Sylvie; Claustres, Mireille; Leturcq, France; Ben Yaou, Rabah; Walter, Maggie C.; Schreiber, Olivia; Karcagi, Veronika; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; Sarmiento, Isis de la Caridad Guerrero; Ambrosini, Anna; Ceradini, Francesca; Kimura, En; van den Bergen, Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Oliveira, Jorge; Santos, Rosario; Neagu, Elena; Butoianu, Niculina; Artemieva, Svetlana; Rasic, Vedrana Milic; Posada, Manuel; Palau, Francesc; Lindvall, Bjorn; Bloetzer, Clemens; Karaduman, Ayse; Topaloglu, Haluk; Inal, Serap; Oflazer, Piraye; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly; Flanigan, Kevin M.; Salgado, David; von Rekowski, Brigitta; Lynn, Stephen; Heslop, Emma; Gainotti, Sabina; Taruscio, Domenica; Kirschner, Jan; Verschuuren, Jan; Bushby, Kate; Beroud, Christophe; Lochmueller, Hanns
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