JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis L Ladislau, X Suárez-Calvet, S Toquet, O Landon-Cardinal, D Amelin, ... Brain 141 (6), 1609-1621, 2018 | 195 | 2018 |
Associative chemosensing by fluorescent macrocycle–dye complexes–a versatile enzyme assay platform beyond indicator displacement F Biedermann, D Hathazi, WM Nau Chemical Communications 51 (24), 4977-4980, 2015 | 68 | 2015 |
Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment M Wiessner, A Roos, CJ Munn, R Viswanathan, T Whyte, D Cox, ... The American Journal of Human Genetics 100 (3), 523-536, 2017 | 61 | 2017 |
Clinical presentation and proteomic signature of patients with TANGO2 mutations N Mingirulli, A Pyle, D Hathazi, CL Alston, N Kohlschmidt, G O'Grady, ... Journal of Inherited Metabolic Disease 43 (2), 297-308, 2020 | 55 | 2020 |
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency D Hathazi, H Griffin, MJ Jennings, M Giunta, C Powell, SF Pearce, ... The EMBO journal 39 (23), e105364, 2020 | 41 | 2020 |
Oxidative protection of hemoglobin and hemerythrin by cross-linking with a nonheme iron peroxidase: potentially improved oxygen carriers for use in blood substitutes D Hathazi, AC Mot, A Vaida, F Scurtu, I Lupan, E Fischer-Fodor, ... Biomacromolecules 15 (5), 1920-1927, 2014 | 40 | 2014 |
The reaction of oxy hemoglobin with nitrite: Mechanism, antioxidant-modulated effect, and implications for blood substitute evaluation D Hathazi, F Scurtu, C Bischin, A Mot, AAA Attia, J Kongsted, ... Molecules 23 (2), 350, 2018 | 28 | 2018 |
Biochemical and pathological changes result from mutated Caveolin-3 in muscle JA González Coraspe, J Weis, ME Anderson, U Münchberg, K Lorenz, ... Skeletal muscle 8, 1-19, 2018 | 26 | 2018 |
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice Y Issop, D Hathazi, MM Khan, R Rudolf, J Weis, S Spendiff, CR Slater, ... Human molecular genetics 27 (18), 3218-3232, 2018 | 25 | 2018 |
Proteomic profiling unravels a key role of specific macrophage subtypes in sporadic inclusion body myositis A Roos, C Preusse, D Hathazi, HH Goebel, W Stenzel Frontiers in Immunology 10, 1040, 2019 | 24 | 2019 |
Comparative In Vivo Effects of Hemoglobin-Based Oxygen Carriers (HBOC) with Varying Prooxidant and Physiological Reactivity VA Toma, AD Farcaș, I Roman, B Sevastre, D Hathazi, F Scurtu, ... PLoS One 11 (4), e0153909, 2016 | 24 | 2016 |
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice MJ Jennings, A Kagiava, L Vendredy, EL Spaulding, M Stavrou, ... Brain 145 (11), 3999-4015, 2022 | 23 | 2022 |
Identification of candidate protein markers in skeletal muscle of laminin-211-deficient CMD type 1A-patients H Kölbel, D Hathazi, M Jennings, R Horvath, A Roos, U Schara Frontiers in Neurology 10, 470, 2019 | 21 | 2019 |
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome L Kollipara, S Buchkremer, JAG Coraspe, D Hathazi, J Senderek, J Weis, ... Oncotarget 8 (40), 68493, 2017 | 21 | 2017 |
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases S Hiz Kurul, Y Oktay, A Töpf, NZ Szabó, S Güngör, A Yaramis, ... Brain 145 (4), 1507-1518, 2022 | 17 | 2022 |
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3 MJ Jennings, D Hathazi, CDL Nguyen, B Munro, U Münchberg, ... Frontiers in Cell and Developmental Biology 9, 710247, 2021 | 17 | 2021 |
In vivo evaluation of hemerythrin-based oxygen carriers: Similarities with hemoglobin-based counterparts VA Toma, AD Farcas, I Roman, B Sevastre, D Hathazi, F Scurtu, ... International journal of biological macromolecules 107, 1422-1427, 2018 | 13 | 2018 |
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human V Phan, D Cox, S Cipriani, S Spendiff, S Buchkremer, E O'Connor, ... Neurobiology of Disease 124, 218-229, 2019 | 11 | 2019 |
Involvement of ferryl in the reaction between nitrite and the oxy forms of globins D Hathazi, SD Mahuţ, FV Scurtu, C Bischin, C Stanciu, AA Attia, G Damian, ... JBIC Journal of Biological Inorganic Chemistry 19, 1233-1239, 2014 | 11 | 2014 |
Immunofluorescence-based analysis of caveolin-3 in the diagnostic management of neuromuscular diseases A Roos, D Hathazi, U Schara Caveolae: Methods and Protocols, 197-216, 2020 | 9 | 2020 |