The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Journal
Brain
ISSN
0006-8950
Date Issued
2025-11-14
Author(s)
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
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
Type
Article