Multiomic characterization of disease progression in mice lacking dystrophin
Signorelli, Mirko, Tsonaka, Roula, Aartsma-Rus, Annemieke, Spitali, Pietro
Published in PloS one (31.03.2023)
Published in PloS one (31.03.2023)
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Plasma lipidomic analysis shows a disease progression signature in mdx mice
Tsonaka, Roula, Seyer, Alexandre, Aartsma-Rus, Annemieke, Spitali, Pietro
Published in Scientific reports (21.06.2021)
Published in Scientific reports (21.06.2021)
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Histone deacetylase inhibitors improve antisense-mediated exon-skipping efficacy in mdx mice
Bizot, Flavien, Goossens, Remko, Tensorer, Thomas, Dmitriev, Sergei, Garcia, Luis, Aartsma-Rus, Annemieke, Spitali, Pietro, Goyenvalle, Aurélie
Published in Molecular therapy. Nucleic acids (13.12.2022)
Published in Molecular therapy. Nucleic acids (13.12.2022)
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Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies
Ayoglu, Burcu, Chaouch, Amina, Lochmüller, Hanns, Politano, Luisa, Bertini, Enrico, Spitali, Pietro, Hiller, Monika, Niks, Eric H, Gualandi, Francesca, Pontén, Fredrik, Bushby, Kate, Aartsma‐Rus, Annemieke, Schwartz, Elena, Le Priol, Yannick, Straub, Volker, Uhlén, Mathias, Cirak, Sebahattin, ‘t Hoen, Peter A C, Muntoni, Francesco, Ferlini, Alessandra, Schwenk, Jochen M, Nilsson, Peter, Al‐Khalili Szigyarto, Cristina
Published in EMBO molecular medicine (01.07.2014)
Published in EMBO molecular medicine (01.07.2014)
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Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy
Signorelli, Mirko, Ayoglu, Burcu, Johansson, Camilla, Lochmüller, Hanns, Straub, Volker, Muntoni, Francesco, Niks, Erik, Tsonaka, Roula, Persson, Anja, Aartsma‐Rus, Annemieke, Nilsson, Peter, Al‐Khalili Szigyarto, Cristina, Spitali, Pietro
Published in Journal of cachexia, sarcopenia and muscle (01.04.2020)
Published in Journal of cachexia, sarcopenia and muscle (01.04.2020)
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Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients
Signorelli, Mirko, Ebrahimpoor, Mitra, Veth, Olga, Hettne, Kristina, Verwey, Nisha, García‐Rodríguez, Raquel, Tanganyika‐deWinter, Christa L, Lopez Hernandez, Luz B, Escobar Cedillo, Rosa, Gómez Díaz, Benjamín, Magnusson, Olafur T, Mei, Hailiang, Tsonaka, Roula, Aartsma‐Rus, Annemieke, Spitali, Pietro
Published in EMBO molecular medicine (09.04.2021)
Published in EMBO molecular medicine (09.04.2021)
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A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures
Hiller, Monika, Falzarano, Maria Sofia, Garcia-Jimenez, Iker, Sardone, Valentina, Verheul, Ruurd C, Popplewell, Linda, Anthony, Karen, Ruiz-Del-Yerro, Estibaliz, Osman, Hana, Goeman, Jelle J, Mamchaoui, Kamel, Dickson, George, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Arechavala-Gomeza, Virginia, Datson, Nicole A, Spitali, Pietro
Published in PloS one (02.10.2018)
Published in PloS one (02.10.2018)
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Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies
Spitali, Pietro, Hettne, Kristina, Tsonaka, Roula, Charrout, Mohammed, Bergen, Janneke, Koeks, Zaïda, Kan, Hermien E., Hooijmans, Melissa T., Roos, Andreas, Straub, Volker, Muntoni, Francesco, Al‐Khalili‐Szigyarto, Cristina, Koel‐Simmelink, Marleen J.A., Teunissen, Charlotte E., Lochmüller, Hanns, Niks, Erik H., Aartsma‐Rus, Annemieke
Published in Journal of cachexia, sarcopenia and muscle (01.08.2018)
Published in Journal of cachexia, sarcopenia and muscle (01.08.2018)
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Fibronectin is a serum biomarker for Duchenne muscular dystrophy
Cynthia Martin, F., Hiller, Monika, Spitali, Pietro, Oonk, Stijn, Dalebout, Hans, Palmblad, Magnus, Chaouch, Amina, Guglieri, Michela, Straub, Volker, Lochmüller, Hanns, Niks, Erik H., Verschuuren, Jan J. G. M., Aartsma-Rus, Annemieke, Deelder, André M., van der Burgt, Yuri E. M., 't Hoen, Peter A. C.
Published in Proteomics. Clinical applications (01.04.2014)
Published in Proteomics. Clinical applications (01.04.2014)
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Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice
Spitali, Pietro, Grumati, Paolo, Hiller, Monika, Chrisam, Martina, Aartsma-Rus, Annemieke, Bonaldo, Paolo
Published in PLoS currents (22.11.2013)
Published in PLoS currents (22.11.2013)
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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, Anna, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria S, Rimessi, Paola, Ciccone, Roberto, Ashton, Emma, McCauley, Joanne, Yau, Shu, Abbs, Stephen, Muntoni, Francesco, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra
Published in BMC genomics (28.11.2008)
Published in BMC genomics (28.11.2008)
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Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy
Spitali, Pietro, Heemskerk, Hans, Vossen, Rolf HAM, Ferlini, Alessandra, den Dunnen, Johan T, 't Hoen, Peter AC, Aartsma-Rus, Annemieke
Published in Laboratory investigation (01.09.2010)
Published in Laboratory investigation (01.09.2010)
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The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy
Neri, Marcella, Valli, Emanuele, Alfano, Giovanna, Bovolenta, Matteo, Spitali, Pietro, Rapezzi, Claudio, Muntoni, Francesco, Banfi, Sandro, Perini, Giovanni, Gualandi, Francesca, Ferlini, Alessandra
Published in BMC genetics (28.03.2012)
Published in BMC genetics (28.03.2012)
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Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models
Tsonaka, Roula, Signorelli, Mirko, Sabir, Ekrem, Seyer, Alexandre, Hettne, Kristina, Aartsma-Rus, Annemieke, Spitali, Pietro
Published in Human molecular genetics (27.03.2020)
Published in Human molecular genetics (27.03.2020)
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Premature termination codons in the DMD gene cause reduced local mRNA synthesis
García-Rodríguez, Raquel, Hiller, Monika, Jiménez-Gracia, Laura, van der Pal, Zarah, Balog, Judit, Adamzek, Kevin, Aartsma-Rus, Annemieke, Spitali, Pietro
Published in Proceedings of the National Academy of Sciences - PNAS (14.07.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (14.07.2020)
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Pathway testing for longitudinal metabolomics
Ebrahimpoor, Mitra, Spitali, Pietro, Goeman, Jelle J., Tsonaka, Roula
Published in Statistics in medicine (15.06.2021)
Published in Statistics in medicine (15.06.2021)
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