Not logged in Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns Share Save
Comparison of Model-Predicted and Observed Evinacumab Pharmacokinetics and Efficacy in Children Aged < 5 Years With Homozygous Familial Hypercholesterolemia Bihorel, Sebastien; Dingman, Robert; Mendell, Jeanne; Norman, Katy C.; George, Richard T.; Zhao, Xue-Qiao; Pordy, Robert; Garcia, Daniel; Putnam, Wendy S.; Raghuveer, Geetha; Mccrindle, Brian W.; Fornari, Elena; Baric, Ivo; Srinivasan, Shubha; Diamond, Melissa; Brinton, Eliot A.; Davis, John D.; Dicioccio, A. Thomas; Harnisch, Lutz Share Save
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease Hammann, Nicole; Lenz, Dominic; Baric, Ivo; Crushell, Ellen; Vici, Carlo Dionisi; Distelmaier, Felix; Feillet, Francois; Freisinger, Peter; Hempel, Maja; Khoreva, Anna L.; Laass, Martin W.; Lacassie, Yves; Lainka, Elke; Larson-Nath, Catherine; Li, Zhongdie; Lipinski, Patryk; Lurz, Eberhard; Megarbane, Andre; Nobre, Susana; Olivieri, Giorgia; Peters, Bianca; Prontera, Paolo; Schlieben, Lea D.; Seroogy, Christine M.; Sobacchi, Cristina; Suzuki, Shigeru; Tran, Christel; Vockley, Jerry; Wang, Jian-She; Wagner, Matias; Prokisch, Holger; Garbade, Sven F.; Kolker, Stefan; Hoffmann, Georg F.; Staufner, Christian Share Save
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke Brunet, 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 Share Save
Genetic landscape of pediatric acute liver failure of indeterminate origin Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger Share Save
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023) Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmannd, Saskia Share Save
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia Share Save
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder D'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 Share Save
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency Lenz, Dominic; Pahl, Jens; Hauck, Fabian; Alameer, Seham; Balasubramanian, Meena; Baric, Ivo; Boy, Nikolas; Church, Joseph A.; Crushell, Ellen; Dick, Anke; Distelmaier, Felix; Gujar, Jidnyasa; Indolfi, Giuseppe; Lurz, Eberhard; Peters, Bianca; Schwerd, Tobias; Serranti, Daniele; Koelker, Stefan; Klein, Christoph; Hoffmann, Georg F.; Prokisch, Holger; Greil, Johann; Cerwenka, Adelheid; Giese, Thomas; Staufner, Christian Share Save
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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broue, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, Francois; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, Rene; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Koelker, Stefan; Hoffmann, Georg F.; Lenz, Dominic Share Save
Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T.; Summar, Marshall L.; Chapman, Kimberly A.; Lund, Allan M.; Rizopoulos, Dimitris; Kolker, Stefan; Williams, Monique; Horster, F.; Jelsig, A. M.; de Lonlay, P.; Wijburg, F. A.; Bosch, A.; Freisinger, P.; Posset, R.; Augoustides-Savvopoulou, P.; Avram, P.; Deleanu, C.; Baumgartner, M. R.; Haeberle, J.; Blasco-Alonso, J.; Burlina, A. B.; Rubert, L.; Garcia Cazorla, A.; Saladelafont, E. Cortes, I; Dionisi-Vici, C.; Martinelli, D.; Dobbelaere, D.; Mention, K.; Grunewald, S.; Chakrapan, A.; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Karall, D.; Scholl-Buergi, S.; De Laet, C.; Matsumoto, S.; de Meirleir, L.; Schiff, M.; Pena-Qiuntana, L.; Djordjevic, M.; Sarajlija, A.; Sykut-Cegielska, J.; Wisniewska, A.; Leao-Teles, E.; Alves, S.; Vara, R.; Vives-Pinera, I; Gil-Ortega, D.; Morris, A.; Zeman, J.; Honzik, T.; Chabrol, B.; Arnaudo, F.; Cano, A.; Thompson, N.; Eyskens, F.; Lindner, M.; Lusebrink, N.; Jalan, A.; Sokal, E.; Legros, V; Nassogne, M. C.; Baric, I Share Save
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report Zekusic, Marija; Skaricic, Ana; Fumic, Ksenija; Rogic, Dunja; Zigman, Tamara; Ramadza, Danijela Petkovic; Vukojevic, Nenad; Rufenacht, Veronique; Uroic, Valentina; Baric, Ivo Share Save
Neuroradiological brain phenotype in mucopolysaccharidosis type II patients from 5 European countries Nestrasil, Igor; Nguyen, Carol; Vaneckova, Manuela; Burgetova, Andrea; Murgasova, Lenka; Zeman, Jiri; Ramadza, Danijela Petkovic; Baric, Ivo; Almassy, Zsuzsanna; Jurickova, Katarina; Bzduch, Vladimir; Tylki-Szymanska, Anna; Magner, Martin Share Save
The genotypic and phenotypic spectrum of MTO1 deficiency O'Byrne, James J.; Tarailo-Graovac, Maja; Ghani, Aisha; Champion, Michael; Deshpande, Charu; Dursun, Ali; Ozgul, Riza K.; Freisinger, Peter; Garber, Ian; Haack, Tobias B.; Horvath, Rita; Baric, Ivo; Husain, Ralf A.; Kluijtmans, Leo A. J.; Kotzaeridou, Urania; Morris, Andrew A.; Ross, Colin J.; Santra, Saikat; Smeitink, Jan; Tarnopolsky, Mark; Wortmann, Saskia B.; Mayer, Johannes A.; Brunner-Krainz, Michaela; Prokisch, Holger; Wasserman, Wyeth W.; Wevers, Ron A.; Engelke, Udo F.; Rodenburg, Richard J.; Ting, Teck Wah; McFarland, Robert; Taylor, Robert W.; Salvarinova, Ramona; van Karnebeek, Clara D. M. Share Save
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. Share Save
The ethical framework for performing research with rare inherited neurometabolic disease patients Giannuzzi, Viviana; Devlieger, Hugo; Margari, Lucia; Odlind, Viveca Lena; Ragab, Lamis; Bellettato, Cinzia Maria; D'Avanzo, Francesca; Lampe, Christina; Cassis, Linda; Cortes-Saladelafont, Elisenda; Cazorla, Angels Garcia; Baric, Ivo; Cvitanovic-Sojat, Ljerka; Fumic, Ksenija; Dali, Christine I.; Bartoloni, Franco; Bonifazi, Fedele; Scarpa, Maurizio; Ceci, Adriana Share Save
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders (vol 10, 164, 2015) Cassis, Linda; Cortes-Saladelafont, Elisenda; Molero-Luis, Marta; Yubero, Delia; Julieta Gonzalez, Maria; Ormazabal, Aida; Fons, Carme; Jou, Cristina; Sierra, Cristina; Castejon Ponce, Esperanza; Ramos, Federico; Armstrong, Judith; Mar O'Callaghan, M.; Casado, Mercedes; Montero, Raquel; Meavilla-Olivas, Silvia; Artuch, Rafael; Baric, Ivo; Bartoloni, Franco; Bellettato, Cinzia Maria; Bonifazi, Fedele; Ceci, Adriana; Cvitanovic-Sojat, Ljerka; Dali, Christine I.; D'Avanzo, Francesca; Fumic, Ksenija; Giannuzzi, Viviana; Lampe, Christina; Scarpa, Maurizio; Garcia-Cazorla, Angels Share Save
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