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Fatbardha Varfaj

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
2023 · Perry B Shieh, Nancy L Kuntz, et al. · The Lancet Neurology · 143
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Generation of enhanced stability factor VIII variants by replacement of charged residues at the A2 domain interface
2008 · Hironao Wakabayashi, Fatbardha Varfaj, et al. · Blood · 47
Carbon-Carbon Bond Cleavage in Activation of the Prodrug Nabumetone
2014 · Fatbardha Varfaj, Siti N.A. Zulkifli, et al. · Drug Metabolism and Disposition · 44
Role of P1 residues Arg336 and Arg562 in the activated-Protein-C-catalysed inactivation of Factor VIIIa
2006 · Fatbardha Varfaj, Julie Neuberg, et al. · Biochemical Journal · 30
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Role of Cysteine Residues in Heme Binding to Human Heme Oxygenase-2 Elucidated by Two-dimensional NMR Spectroscopy
2012 · Fatbardha Varfaj, Jed N. Lampe, et al. · Journal of Biological Chemistry · 29
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First-in-human study of TN-201, an AAV9 gene replacement therapy in MYBPC3 -associated hypertrophic cardiomyopathy: initial safety, pharmacodynamic, and imaging results from MyPEAK-1
2025 · Milind Y Desai, Sherif F Nagueh, et al. · Cardiovascular Research · 25
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Residues Surrounding Arg336 and Arg562 Contribute to the Disparate Rates of Proteolysis of Factor VIIIa Catalyzed by Activated Protein C
2007 · Fatbardha Varfaj, Hironao Wakabayashi, et al. · Journal of Biological Chemistry · 18
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial
2023 · Michael W. Lawlor, Benedikt Schoser, et al. · EBioMedicine · 12
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pH-dependent association of factor VIII chains: Enhancement of affinity at physiological pH by Cu2+
2006 · Hironao Wakabayashi, Qian Zhou, et al. · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics · 9
The role of P4-P3’ residues flanking Arg336 in facilitating activated protein C-catalyzed cleavage and inactivation of factor VIIIa
2011 · Jennifer P. DeAngelis, Fatbardha Varfaj, et al. · Thrombosis Research · 7
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review
2024 · Benedikt Schoser, Nina Raben, et al. · Molecular Genetics and Metabolism Reports · 6
High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
2023 · Gaia Andreoletti, Oriana Romano, et al. · The American Journal of Human Genetics · 6
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A3 domain residue Glu1829 contributes to A2 subunit retention in factor VIIIa
2007 · H. WAKABAYASHI, Q. ZHOU, et al. · Journal of Thrombosis and Haemostasis · 5
Establishment of normal myofiber size distribution in children and young adults
2025 · Michael W Lawlor, Marta Margeta, et al. · Journal of Neuropathology & Experimental Neurology · 2
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study
2025 · Perry B. Shieh, Wendy Hughes, et al. · Therapeutic Advances in Rare Disease · 1
Interim results from MyCLIMB, a natural history study of pediatric MYBPC3-associated hypertrophic cardiomyopathy
2025 · B Feingold, H Wang, et al. · European Heart Journal
AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study
2023 · Jordi Diaz Manera, Tahseen Mozaffar, et al. · Molecular Genetics and Metabolism
P2 and P2′ Residues Are Important for the Efficient Proteolysis of Factor VIIIa at Arg336 Catalyzed by Activated Protein C.
2007 · Fatbardha Varfaj, Jennifer DeAngelis, et al. · Blood
The Mutation Leu335Pro in Factor VIII Results in Its Rapid Inactivation by Thrombin-Catalyzed Proteolysis at Arg336.
2007 · Fatbardha Varfaj, Hironao Wakabayashi, et al. · Blood
Leu335 Contributes to the Efficient Proteolysis of Factor Viiia at Arg336 Catalyzed by Activated Protein C
2007 · F. Varfaj, H. Wakabayashi, et al. · Journal of Thrombosis and Haemostasis
Contribution of P4-P3′ Residues Surrounding P1 Residues Arg336 and Arg562 in the Activated Protein C-Catalyzed Inactivation of Factor VIIIa.
2006 · Fatbardha Varfaj, Hironao Wakabayashi, et al. · Blood
A3 Domain Residue Glu1829 Contributes to A2 Subunit Retention in Factor VIIIa.
2006 · Hironao Wakabayashi, Qian Zhou, et al. · Blood
pH-Dependent Association of Factor VIII Chains: Enhancement of Affinity at Physiological pH by Cu2+.
2005 · Hironao Wakabayashi, Qian Zhou, et al. · Blood
Exosite Interactions Contribute to the Activated Protein C-Catalyzed Inactivation of Factor VIIIa.
2004 · Fatbardha Varfaj, Julie Neuberg, et al. · Blood
Works count: 25
Citation count: 384
H-index: 9
I10-index: 8
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