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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat. 2022 Mar;43(3):403-419. doi: 10.1002/humu.24326. Epub 2022 Jan 12.
Hum Mutat. 2022.
PMID: 34989426
Free PMC article.
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: mirzadeh hs.
Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039.
Brain. 2023.
PMID: 36757831
Free PMC article.
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Therapeutical impacts of transcranial direct current stimulation on drug-resistant epilepsy in pediatric patients: A double-blind parallel-group randomized clinical trial.
Ashrafzadeh F, Akhondian J, Hashemi N, Esmaeilzadeh M, Ghanaee A, Yavarzadeh H, Imannezhad S, Saeedi Zand N, Mirzadeh HS, Beiraghi Toosi M.
Ashrafzadeh F, et al. Among authors: mirzadeh hs.
Epilepsy Res. 2023 Feb;190:107074. doi: 10.1016/j.eplepsyres.2022.107074. Epub 2023 Jan 5.
Epilepsy Res. 2023.
PMID: 36657251
Clinical Trial.
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