未登录 The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency Merkevicius, K.; Schlieben, L.D.; Ganetzky, R.; Feichtinger, R.G.; Jiang, H.; Ebihara, T.; Murayama, K.; Ferrera, G.; Ardissone, A.; Rokicki, D.; 等. PDHA1相关丙酮酸脱氢酶复合物缺乏症的基因型和表型景观。Brain 2025. 提前发表。 [Google Scholar] [CrossRef] Kajus Merkevicius; Dmitrii Smirnov; Lea D Schlieben; Rebecca Ganetzky; René G Feichtinger; Huafang Jiang; Fang Fang; Tomohiro Ebihara; Kei Murayama; Giulia Ferrera; Anna Ardissone; Dariusz Rokicki; Dorota Wesol-Kucharska; Sabine Schröder; Peter Bauer; Aida Bertoli-Avella; Elsebeth Østergaard; Peter Freisinger; Mirian C H Janssen; Matias Wagner; Omar Abouyousef; Bader Alhaddad; Lama AlAbdi; Fowzan Alkuraya; Charlotte L Alston; Anna Baghdasaryan; Diana Barca; Ivo Barić; Marcello Bellusci; Andrea Bevot; Eugen Boltshauser; Ingo Borggraefe; Juliette Bouchereau; Claudio Bruno; Birute Burnyte; Amy Calhoun; Kari Casas; Mahmut Coker; Ellen Crushell; Pascal De Lonlay; Carlo Dionisi-Vici; Felix Distelmaier; Marni J Falk; Ana Cristina Ferreira; Carlos R Ferreira; Can Ficicioglu; Gulden Fatma Gokçay; Johannes Häberle; Oliver Heath; Albrecht Hellenschmidt; Julia Hoefele; Georg F Hoffmann; Tomas Honzik; Martina Huemer; Patrícia Janeiro; Amel Karaa; Çiğdem Seher Kasapkara; Ilse Kern; Joerg Klepper; Thomas Klopstock; Ina Knerr; Johannes Koch; Zita Krumina; Costanza Lamperti; Elise Lebigot; Zhimei Liu; Esther M Maier; Diego Martinelli; Robert McFarland; Bryce Mendelsohn; Maria Judit Molnar; Helen Mundy; Marie Cecile Nassogne; Anabela Oliveira; Katrin Õunap; Chiara Panicucci; Sumit Parikh; Heidi Peters; Samia Pichard; Barbara Plecko; Danijela P Ramadža; Gabriela M Repetto; Isabel Rivera; Richard J Rodenburg; Alessandro Rossi; Manuel Schiff; Kathrin Seidemann; Wendy E Smith; Sérgia Soares; Barbara Siri; Katja Steinbrucker; Pasquale Striano; Jolanta Sykut-Cegielska; Galit Tal; Robert W Taylor; Konstantinos Tsiakas; Sema Kalkan Ucar; Eva Hoytema van Konijnenburg; Mathias Woidy; Joy Yaplito-Lee; Yilmaz Yildiz; Martin Zenker; Petra Zsidegh; Dominik Westphal; Wolfgang Sperl; Thomas Meitinger; Garry K Brown; Holger Prokisch; Johannes A Mayr; Saskia B Wortmann; null 分享 收藏
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes Siegert, Sandy; Grisold, Anna; Pal-Handl, Katharina; Lilja, Stephanie; Kepa, Sylvia; Silvaieh, Sara; Laccone, Franco; Wiest, Gerald; Pogledic, Ivana; Schmook, Maria T.; Boltshauser, Eugen; Schmidt, Wolfgang M.; Krenn, Martin 分享 收藏
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Ramadza, Danijela Petkovic; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria 分享 收藏
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants 由单等位基因HK1变体引起的神经发育障碍的临床，神经影像学和代谢足迹 Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A. 分享 收藏
Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome Gafner, Michal; Haddad, Leila; Gupta, Rachna; Leibovitz, Zvi; Ron, Itamar Zilberman; Ben-Sira, Liat; Libzon, Stephanie; Gindes, Liat; Boltshauser, Eugen; Lerman-Sagie, Tally 分享 收藏
Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis Alves, C. A. P. F.; Sidpra, J.; Manteghinejad, A.; Sudhakar, S.; Massey, F. V.; Aldinger, K. A.; Haldipur, P.; Lucato, L. T.; Ferraciolli, S. F.; Teixeira, S. R.; Oztekin, O.; Bhattacharya, D.; Taranath, A.; Prabhu, S. P.; Mirsky, D. M.; Andronikou, S.; Millen, K. J.; Barkovich, A. J.; Boltshauser, E.; Dobyns, W. B.; Barkovich, M. J.; Whitehead, M. T.; Mankad, K. 分享 收藏
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued Schroeder, Simone; Yigit, Goekhan; Li, Yun; Altmueller, Janine; Buettel, Hans-Martin; Fiedler, Barbara; Kretzschmar, Christoph; Nuernberg, Peter; Seeger, Juergen; Serpieri, Valentina; Valente, Enza Maria; Wollnik, Bernd; Boltshauser, Eugen; Brockmann, Knut 分享 收藏
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation Gafner, M.; Garel, C.; Leibovitz, Z.; Valence, S.; Haratz, K. Krajden; Oegema, R.; Mancini, G. M. S.; Heron, D.; Bueltmann, E.; Burglen, L.; Rodriguez, D.; Huisman, T. A. G. M.; Lequin, M. H.; Arad, A.; Kidron, D.; Muqary, M.; Gindes, L.; Lev, D.; Boltshauser, E.; Lerman-Sagie, T. 分享 收藏
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 反复发作，创始人和拟态变异有助于Joubert综合征的遗传景观 Serpieri, Valentina; Mortarini, Giulia; Loucks, Hailey; Biagini, Tommaso; Micalizzi, Alessia; Palmieri, Ilaria; Dempsey, Jennifer C.; D'Abrusco, Fulvio; Mazzotta, Concetta; Battini, Roberta; Bertini, Enrico Silvio; Boltshauser, Eugen; Borgatti, Renato; Brockmann, Knut; D'Arrigo, Stefano; Nardocci, Nardo; Fischetto, Rita; Agolini, Emanuele; Novelli, Antonio; Romano, Alfonso; Romaniello, Romina; Stanzial, Franco; Signorini, Sabrina; Strisciuglio, Pietro; Gana, Simone; Mazza, Tommaso; Doherty, Dan; Valente, Enza Maria 分享 收藏
Expanding the natural history of CASK-related disorders to the prenatal period Gafner, Michal; Boltshauser, Eugen; D'Abrusco, Fulvio; Battini, Roberta; Romaniello, Romina; D'Arrigo, Stefano; Zanni, Ginevra; Leibovitz, Zvi; Yosovich, Keren; Lerman-Sagie, Tally 分享 收藏
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype Whitehead, M. T.; Barkovich, M. J.; Sidpra, J.; Alves, C. A.; Mirsky, D. M.; Oztekin, O.; Bhattacharya, D.; Lucato, L. T.; Sudhakar, S.; Taranath, A.; Andronikou, S.; Prabhu, S. P.; Aldinger, K. A.; Haldipur, P.; Millen, K. J.; Barkovich, A. J.; Boltshauser, E.; Dobyns, W. B.; Mankad, K. 分享 收藏
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier Bolsterli, Bigna K.; Boltshauser, Eugen; Palmieri, Luigi; Spenger, Johannes; Brunner-Krainz, Michaela; Distelmaier, Felix; Freisinger, Peter; Geis, Tobias; Gropman, Andrea L.; Haberle, Johannes; Hentschel, Julia; Jeandidier, Bruno; Karall, Daniela; Keren, Boris; Klabunde-Cherwon, Annick; Konstantopoulou, Vassiliki; Kottke, Raimund; Lasorsa, Francesco M.; Makowski, Christine; Mignot, Cyril; Tuura, Ruth O'Gorman; Porcelli, Vito; Santer, Rene; Sen, Kuntal; Steinbruecker, Katja; Syrbe, Steffen; Wagner, Matias; Ziegler, Andreas; Zoeggeler, Thomas; Mayr, Johannes A.; Prokisch, Holger; Wortmann, Saskia B. 分享 收藏
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SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C.; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K.; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E.; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin, V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczaluba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria 分享 收藏
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome Powell, Laura; Olinger, Eric; Wedderburn, Sarah; Ramakumaran, Vijayalakshmi Salem; Kini, Usha; Clayton-Smith, Jill; Ramsden, Simon C.; Rice, Sarah J.; Barroso-Gil, Miguel; Wilson, Ian; Cowley, Lorraine; Johnson, Sally; Harris, Elizabeth; Montgomery, Tara; Bertoli, Marta; Boltshauser, Eugen; Sayer, John A. 分享 收藏
Neuroimaging Features of Ectopic Cerebellar Tissue: A Case Series Study of a Rare Entity Orman, G.; Kralik, S. F.; Battini, R.; Buchignani, B.; Desai, N. K.; Goetti, R.; Meoded, A.; Mitter, C.; Wallacher-Scholz, B.; Boltshauser, E.; Huisman, T. A. G. M. 分享 收藏
Heterozygous truncating variants inSUFUcause congenital ocular motor apraxia Schroeder, Simone; Li, Yun; Yigit, Gokhan; Altmueller, Janine; Bader, Ingrid; Bevot, Andrea; Biskup, Saskia; Dreha-Kulaczewski, Steffi; Korenke, G. Christoph; Kottke, Raimund; Mayr, Johannes A.; Preisel, Martin; Toelle, Sandra P.; Wente-Schulz, Sarah; Wortmann, Saskia B.; Hahn, Heidi; Boltshauser, Eugen; Uhmann, Anja; Wollnik, Bernd; Brockmann, Knut 分享 收藏
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation Rymen, Daisy; Lindhout, Martijn; Spanou, Maria; Ashrafzadeh, Farah; Benkel, Ira; Betzler, Cornelia; Coubes, Christine; Hartmann, Hans; Kaplan, Julie D.; Ballhausen, Diana; Koch, Johannes; Lotte, Jan; Mohammadi, Mohammad Hasan; Rohrbach, Marianne; Dinopoulos, Argirios; Wermuth, Marieke; Willis, Daniel; Brugger, Karin; Wevers, Ron A.; Boltshauser, Eugen; Bierau, Jorgen; Mayr, Johannes A.; Wortmann, Saskia B. 分享 收藏
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve 分享 收藏
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis SOD1缺乏症: 一种不同于肌萎缩性侧索硬化症的新综合征 Park, Fijulien H.; Elpers, Christiane; Reunert, Janine; McCormick, Michael L.; Mohr, Julia; Biskup, Saskia; Schwartz, Oliver; Rust, Stephan; Grueneberg, Marianne; Seelhoefer, Anja; Schara, Ulrike; Boltshauser, Eugen; Spitz, Douglas R.; Marquardt, Thorsten 分享 收藏
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