The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Merkevicius, Kajus; Smirnov, Dmitrii; Schlieben, Lea; Ganetzky, Rebecca; Feichtinger, René; Jiang, Huafang; Fang, Fang; Ebihara, Tomohiro; Murayama, Kei; Ferrera, Giulia; Ardissone, Anna; Rokicki, Dariusz; Wesol-Kucharska, Dorota; Schröder, Sabine; Bauer, Peter; Bertoli-Avella, Aida; Østergaard, Elsebeth; Freisinger, Peter; Janssen, Mirian; Wagner, Matias; Abouyousef, Omar; Alhaddad, Bader; AlAbdi, Lama; Alkuraya, Fowzan; Alston, Charlotte; Baghdasaryan, Anna; Barca, Diana; Barić, Ivo; Bellusci, Marcello; Bevot, Andrea; Boltshauser, Eugen; Borggraefe, Ingo; Bouchereau, Juliette; Bruno, Claudio; Burnyte, Birute; Calhoun, Amy; Casas, Kari; Coker, Mahmut; Crushell, Ellen; De Lonlay, Pascal; Dionisi-Vici, Carlo; Distelmaier, Felix; Falk, Marni; Ferreira, Ana; Ferreira, Carlos; Ficicioglu, Can; Fatma Gokçay, Gulden; Häberle, Johannes; Heath, Oliver; Hellenschmidt, Albrecht; Hoefele, Julia; Hoffmann, Georg; Honzik, Tomas; Huemer, Martina; Janeiro, Patrícia; Karaa, Amel; Seher Kasapkara, Çiğdem; Kern, Ilse; Klepper, Joerg; Klopstock, Thomas; Knerr, Ina; Koch, Johannes; Krumina, Zita; Lamperti, Costanza; Lebigot, Elise; Liu, Zhimei; Maier, Esther; Martinelli, Diego; McFarland, Robert; Mendelsohn, Bryce; Molnar, Maria; Mundy, Helen; Nassogne, Marie-Cecile; Oliveira, Anabela; Õunap, Katrin; Panicucci, Chiara; Parikh, Sumit; Peters, Heidi; Pichard, Samia; Plecko, Barbara; Ramadža, Danijela; Repetto, Gabriela; Rivera, Isabel; Rodenburg, Richard; Rossi, Alessandro; Schiff, Manuel; Seidemann, Kathrin; Smith, Wendy; Soares, Sérgia; Siri, Barbara; Steinbrucker, Katja; Striano, Pasquale; Sykut-Cegielska, Jolanta; Tal, Galit; Taylor, Robert; Tsiakas, Kostas; Kalkan Ucar, Sema; van Konijnenburg, Eva; Woidy, Mathias; Yaplito-Lee, Joy; Yildiz, YILMAZ; Zenker, Martin; Zsidegh, Petra; Westphal, Dominik; Sperl, Wolfgang; Meitinger, Thomas; Brown, Garry; Prokisch, Holger; Mayr, Johannes; Wortmann, Saskia

doi:10.1093/brain/awaf430

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Merkevicius K., Smirnov D., Schlieben L. D., Ganetzky R., Feichtinger R. G., Jiang H., ...More

Brain : a journal of neurology, 2025 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume:
Publication Date: 2025
Doi Number: 10.1093/brain/awaf430
Journal Name: Brain : a journal of neurology
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CINAHL, EMBASE, MEDLINE, MLA - Modern Language Association Database, Psycinfo, Nature Index
Hacettepe University Affiliated: Yes