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Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P; Benson, Jane E; Yoshida, Shoko; Jung, Nikolai H; Tinschert, Sigrid; Neuhann, Teresa M; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A G M; Boltshauser, Eugen (2012). Macrocerebellum: Significance and Pathogenic Considerations. Cerebellum, 11(4), pp. 1026-36. New York, N.Y.: Springer 10.1007/s12311-012-0379-1
