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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
Wiendl, Heinz; Abicht, Angela; Chan, Andrew; Della Marina, Adela; Hagenacker, Tim; Hekmat, Khosro; Hoffmann, Sarah; Hoffmann, Hans-Stefan; Jander, Sebastian; Keller, Christian; Marx, Alexander; Melms, Arthur; Melzer, Nico; Müller-Felber, Wolfgang; Pawlitzki, Marc; Rückert, Jens-Carsten; Schneider-Gold, Christiane; Schoser, Benedikt; Schreiner, Bettina; Schroeter, Michael; ... (2023). Guideline for the management of myasthenic syndromes. Therapeutic advances in neurological disorders, 16(17562864231213240), p. 17562864231213240. Sage 10.1177/17562864231213240
Kipfer, Stefan; Jung, Simon; Lemke, Johannes R.; Kipfer-Kauer, Anna; Howell, Jeremy P.; Kaelin-Lang, Alain; Nyffeler, Thomas; Gutbrod, Klemens; Abicht, Angela; Müri, René M. (2013). Novel CACNA1A mutation(s) associated with slow saccade velocities. Journal of neurology, 260(12), pp. 3010-3014. Springer Berlin Heidelberg 10.1007/s00415-013-7099-4