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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: abicht a. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa.
Feddersen B, DE LA Fontaine L, Sass JO, Lutz J, Abicht A, Klopstock T, Verma IC, Meisenzahl E, Pogarell O. Feddersen B, et al. Among authors: abicht a. Am J Psychiatry. 2009 Apr;166(4):494-5. doi: 10.1176/appi.ajp.2008.08101525. Am J Psychiatry. 2009. PMID: 19339372 No abstract available.
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.
Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP. Brusa R, et al. Among authors: abicht a. Neuromuscul Disord. 2018 Jun;28(6):532-537. doi: 10.1016/j.nmd.2018.04.006. Epub 2018 Apr 13. Neuromuscul Disord. 2018. PMID: 29759638 Review.
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.
van Baalen A, Häusler M, Plecko-Startinig B, Strautmanis J, Vlaho S, Gebhardt B, Rohr A, Abicht A, Kluger G, Stephani U, Probst C, Vincent A, Bien CG. van Baalen A, et al. Among authors: abicht a. Neuropediatrics. 2012 Aug;43(4):209-16. doi: 10.1055/s-0032-1323848. Epub 2012 Aug 21. Neuropediatrics. 2012. PMID: 22911482
133 results