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Page 1
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Ashrafi M, Kameli R, Hosseinpour S, Razmara E, Zamani Z, Rezaei Z, Mashayekhi R, Pak N, Barzegar M, Azizimalamiri R, Kashani MR, Khosroshahi N, Rasulinezhad M, Heidari M, Amanat M, Abdi A, Mohammadi B, Mohammadi M, Zamani GR, Badv RS, Omrani A, Nikbakht S, Bereshneh AH, Movahedinia M, Moghaddam HF, Ardakani HS, Akbari MG, Tousi MB, Shahi MV, Hosseini F, Amouzadeh MH, Hosseini SA, Nikkhah A, Khajeh A, Alizadeh H, Yarali B, Rohani M, Karimi P, Elahi HML, Hosseiny SMM, Sadeghzadeh MS, Mohebbi H, Moghadam MH, Aryan H, Vahidnezhad H, Soveizi M, Rabbani B, Rabbani A, Mahdieh N, Garshasbi M, Tavasoli AR. Ashrafi M, et al. Neurogenetics. 2023 Oct;24(4):279-289. doi: 10.1007/s10048-023-00730-y. Epub 2023 Aug 19. Neurogenetics. 2023. PMID: 37597066
Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency.
Youssefian L, Saeidian AH, Tavasoli AR, Kalamati E, Naghipoor K, Hozhabrpour A, Mesdaghi M, Saffarian Z, Mahmoudi H, Nabavi M, Shokri S, Zeinali S, Béziat V, Casanova JL, Jouanguy E, Uitto J, Vahidnezhad H. Youssefian L, et al. J Invest Dermatol. 2022 Sep;142(9):2435-2445. doi: 10.1016/j.jid.2022.02.011. Epub 2022 Mar 8. J Invest Dermatol. 2022. PMID: 35276224 Free PMC article.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Klöckner C, et al. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074. Brain. 2022. PMID: 35202461 Free PMC article.
Follow-up of 25 patients with treatable ataxia: A comprehensive case series study.
Ashrafi MR, Pourbakhtyaran E, Rohani M, Shalbafan B, Tavasoli AR, Hosseinpour S, Rasulinezhad M, Rezaei Z, Zare Dehnavi A, Hosseiny SMM, Haghighi R, Ghabeli H, Heidari M. Ashrafi MR, et al. Clin Case Rep. 2022 Apr 20;10(4):e05777. doi: 10.1002/ccr3.5777. eCollection 2022 Apr. Clin Case Rep. 2022. PMID: 35474986 Free PMC article.
31 results