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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction.
Riveros-Mckay F, Weale ME, Moore R, Selzam S, Krapohl E, Sivley RM, Tarran WA, Sørensen P, Lachapelle AS, Griffiths JA, Saffari A, Deanfield J, Spencer CCA, Hippisley-Cox J, Hunter DJ, O'Sullivan JW, Ashley EA, Plagnol V, Donnelly P. Riveros-Mckay F, et al. Circ Genom Precis Med. 2021 Apr;14(2):e003304. doi: 10.1161/CIRCGEN.120.003304. Epub 2021 Mar 2. Circ Genom Precis Med. 2021. PMID: 33651632 Free PMC article.
Dysphonia Severity Index and Consensus Auditory-Perceptual Evaluation of Voice Outcomes, and Their Relation in Hospitalized Patients with COVID-19.
Aghadoost S, Molazeinal Y, Khoddami SM, Shokuhifar G, Dabirmoghaddam P, Saffari M. Aghadoost S, et al. J Voice. 2022 Dec 1:S0892-1997(22)00384-8. doi: 10.1016/j.jvoice.2022.11.034. Online ahead of print. J Voice. 2022. PMID: 36642593 Free PMC article.
OBJECTIVES: This study aimed to compare the results of the Dysphonia Severity Index (DSI) and Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) between patients hospitalized with COVID-19 and healthy subjects, as well as to investigate the correlation between DSI …
OBJECTIVES: This study aimed to compare the results of the Dysphonia Severity Index (DSI) and Consensus Auditory-Perceptual Evaluation of Vo …
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
Saffari A, Brösse I, Wiemer-Kruel A, Wilken B, Kreuzaler P, Hahn A, Bernhard MK, van Tilburg CM, Hoffmann GF, Gorenflo M, Hethey S, Kaiser O, Kölker S, Wagner R, Witt O, Merkenschlager A, Möckel A, Roser T, Schlump JU, Serfling A, Spiegler J, Milde T, Ziegler A, Syrbe S. Saffari A, et al. Orphanet J Rare Dis. 2019 May 3;14(1):96. doi: 10.1186/s13023-019-1077-6. Orphanet J Rare Dis. 2019. PMID: 31053163 Free PMC article.
Seasonal and spatial variation in dithiothreitol (DTT) activity of quasi-ultrafine particles in the Los Angeles Basin and its association with chemical species.
Saffari A, Daher N, Shafer MM, Schauer JJ, Sioutas C. Saffari A, et al. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2014;49(4):441-51. doi: 10.1080/10934529.2014.854677. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2014. PMID: 24345242
Noticeable peaks were observed at urban near-freeway locations representing "source" sites impacted by fresh traffic emissions. Regression analysis indicated strong association (R > 0.7) between the DTT activity and the concentrations of carbonaceous species (OC, EC, WS …
Noticeable peaks were observed at urban near-freeway locations representing "source" sites impacted by fresh traffic emissions. Regression a …