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Showing results for narges akbar
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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Jacob M, Kölbel H, Harrer P, Kopajtich R, Munot P, Achleitner MT, Badmann S, Brugger M, Brunet T, Bonne G, Codina M, Ebner L, Eshraghi P, Eyring K, Farhat AS, Feichtinger RG, Graf E, Marcé-Grau A, Hahn A, Houlden H, Karimiani EG, Manel V, Mayerhanser K, Nectoux J, Nelson I, Phadke R, Prokisch H, Sadeghian S, Saparov A, Schänzer A, Schara-Schmidt U, Schmidt J, Schuler R, Sewry C, Shariati G, Slanz S, Smirnov D, Sukenik-Halevy R, Tajsharghi H, Toosi MB, Trujillano L, Weis J, Wilson LC, Ben Yaou R, Zamani M, Zech M, Zschüntzsch J, Kornak U, Goméz-Andrés D, Maroofian R, Winkelmann J, Roos A, Distelmaier F, Mayr JA, Wagner M. Jacob M, et al. Brain. 2025 Jun 11:awaf227. doi: 10.1093/brain/awaf227. Online ahead of print. Brain. 2025. PMID: 40497796
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Hashemian S, Eshraghi P, Dilaver N, Galehdari H, Shalbafan B, Vakili R, Ghaemi N, Ahangari N, Rezazadeh Varaghchi J, Zeighami J, Sedaghat A, Aminzadeh M, Hamid M, Saberi A, Ashtari F, Ghayoor Karimiani E, Shariati G. Hashemian S, et al. Iran J Child Neurol. 2019 Spring;13(2):155-162. Iran J Child Neurol. 2019. PMID: 31037088 Free PMC article.