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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR. Calame DG, et al. Among authors: prus e. Ann Neurol. 2022 Aug;92(2):304-321. doi: 10.1002/ana.26381. Epub 2022 May 28. Ann Neurol. 2022. PMID: 35471564 Free PMC article.
Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.
NaserEddin A, Shamriz O, Keller B, Alzyoud RM, Unger S, Fisch P, Prus E, Berkun Y, Averbuch D, Shaag A, Wahadneh AM, Conley ME, Warnatz K, Elpeleg O, Stepensky P. NaserEddin A, et al. Among authors: prus e. J Clin Immunol. 2015 May;35(4):356-60. doi: 10.1007/s10875-015-0164-2. Epub 2015 Apr 17. J Clin Immunol. 2015. PMID: 25893637
Heterogeneity of F cells in β-thalassemia.
Prus E, Fibach E. Prus E, et al. Transfusion. 2013 Mar;53(3):499-504. doi: 10.1111/j.1537-2995.2012.03769.x. Epub 2012 Jun 28. Transfusion. 2013. PMID: 22738617
Therapeutic hemoglobin levels after gene transfer in β-thalassemia mice and in hematopoietic cells of β-thalassemia and sickle cells disease patients.
Breda L, Casu C, Gardenghi S, Bianchi N, Cartegni L, Narla M, Yazdanbakhsh K, Musso M, Manwani D, Little J, Gardner LB, Kleinert DA, Prus E, Fibach E, Grady RW, Giardina PJ, Gambari R, Rivella S. Breda L, et al. Among authors: prus e. PLoS One. 2012;7(3):e32345. doi: 10.1371/journal.pone.0032345. Epub 2012 Mar 27. PLoS One. 2012. PMID: 22479321 Free PMC article.
42 results