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PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways

by Magrinelli, Francesca, Tesson, Christelle, Angelova, Plamena R, Salazar-Villacorta, Ainara, Rodriguez, Jose A, Scardamaglia, Annarita, Chung, Brian Hon-Yin, Jaconelli, Matthew, Vona, Barbara, Esteras, Noemi, Kwong, Anna Ka-Yee, Courtin, Thomas, Maroofian, Reza, Alavi, Shahryar, Nirujogi, Raja, Severino, Mariasavina, Lewis, Patrick A, Efthymiou, Stephanie, O'Callaghan, Benjamin, Buchert, Rebecca, Sofan, Linda, Lis, Pawel, Pinon, Chloé, Breedveld, Guido J, Chui, Martin Man-Chun, Murphy, David, Pitz, Vanessa, Makarious, Mary B, Cassar, Marlene, Hassan, Bassem A, Iftikhar, Sana, Rocca, Clarissa, Bauer, Peter, Tinazzi, Michele, Svetel, Marina, Samanci, Bedia, Hanağası, Haşmet A, Bilgiç, Basar, Obeso, José A, Kurtis, Monica M, Cogan, Guillaume, Başak, Ayşe Nazlı, Kiziltan, Güneş, Gül, Tuğçe, Yalçın, Gül, Elibol, Bülent, Barišić, Nina, Ng, Earny Wei-Sen, Fan, Sze-Shing, Hershkovitz, Tova, Weiss, Karin, Raza Alvi, Javeria, Sultan, Tipu, Azmi Alkhawaja, Issam, Froukh, Tawfiq, E Alrukban, Hadeel Abdollah, Fauth, Christine, Schatz, Ulrich A, Zöggeler, Thomas, Zech, Michael, Stals, Karen, Varghese, Vinod, Gandhi, Sonia, Blauwendraat, Cornelis, Hardy, John A, Lesage, Suzanne, Bonifati, Vincenzo, Haack, Tobias B, Bertoli-Avella, Aida M, Steinfeld, Robert, Alessi, Dario R, Steller, Hermann, Brice, Alexis, Abramov, Andrey Y, Bhatia, Kailash P, Houlden, Henry
Published in medRxiv : the preprint server for health sciences (20.06.2024)
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