Article

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

Brain : a journal of neurology - 7 Jul 2026

Merkevicius Kajus, Smirnov Dmitrii, Schlieben Lea D, Ganetzky Rebecca, Feichtinger René G, 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 C H, Wagner Matias, Abouyousef Omar, Alhaddad Bader, AlAbdi Lama, Alkuraya Fowzan, Alston Charlotte L, 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 J, Ferreira Ana Cristina, Ferreira Carlos R, Ficicioglu Can, Gokçay Gulden Fatma, Häberle Johannes, Heath Oliver, Hellenschmidt Albrecht, Hoefele Julia, Hoffmann Georg F, Honzik Tomas, Huemer Martina, Janeiro Patrícia, Karaa Amel, Kasapkara Çiğdem Seher, Kern Ilse, Klepper Joerg, Klopstock Thomas, Knerr Ina, Koch Johannes, Krumina Zita, Lamperti Costanza, Lebigot Elise, Liu Zhimei, Maier Esther M, Martinelli Diego, McFarland Robert, Mendelsohn Bryce, Molnar Maria Judit, Mundy Helen, Nassogne Marie Cecile, Oliveira Anabela, Õunap Katrin, Panicucci Chiara, Parikh Sumit, Peters Heidi, Pichard Samia, Plecko Barbara, Ramadža Danijela P, Repetto Gabriela M, Rivera Isabel, Rodenburg Richard J, Rossi Alessandro, Schiff Manuel, Seidemann Kathrin, Smith Wendy E, Soares Sérgia, Siri Barbara, Steinbrucker Katja, Striano Pasquale, Sykut-Cegielska Jolanta, Tal Galit, Taylor Robert W, Tsiakas Konstantinos, Kalkan Ucar Sema, Hoytema van Konijnenburg Eva, Woidy Mathias, Yaplito-Lee Joy, Yildiz Yilmaz, Zenker Martin, Zsidegh Petra, Westphal Dominik, Sperl Wolfgang, Meitinger Thomas, Brown Garry K, Prokisch Holger, Mayr Johannes A, Wortmann Saskia B