| Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human M Neri, S Torelli, S Brown, I Ugo, P Sabatelli, L Merlini, P Spitali, ... Neuromuscular Disorders 17 (11-12), 913-918, 2007 | 202 | 2007 |
| Splice modulating therapies for human disease P Spitali, A Aartsma-Rus Cell 148 (6), 1085-1088, 2012 | 147 | 2012 |
| Reduced cerebral gray matter and altered white matter in boys with D uchenne muscular dystrophy N Doorenweerd, CS Straathof, EM Dumas, P Spitali, IB Ginjaar, ... Annals of Neurology 76 (3), 403-411, 2014 | 136 | 2014 |
| Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies B Ayoglu, A Chaouch, H Lochmüller, L Politano, E Bertini, P Spitali, ... EMBO molecular medicine 6 (7), 918-936, 2014 | 126 | 2014 |
| Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants JC van den Bergen, M Hiller, S Böhringer, L Vijfhuizen, HB Ginjaar, ... Journal of Neurology, Neurosurgery & Psychiatry 86 (10), 1060-1065, 2015 | 111 | 2015 |
| Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse P Rimessi, P Sabatelli, M Fabris, P Braghetta, E Bassi, P Spitali, G Vattemi, ... Molecular Therapy 17 (5), 820-827, 2009 | 93 | 2009 |
| Fibronectin is a serum biomarker for D uchenne muscular dystrophy F Cynthia Martin, M Hiller, P Spitali, S Oonk, H Dalebout, M Palmblad, ... Proteomics–Clinical Applications 8 (3-4), 269-278, 2014 | 85 | 2014 |
| A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies M Bovolenta, M Neri, S Fini, M Fabris, C Trabanelli, A Venturoli, E Martoni, ... BMC genomics 9, 1-11, 2008 | 85 | 2008 |
| Biomarkers of Duchenne muscular dystrophy: current findings CAK Szigyarto, P Spitali Degenerative neurological and neuromuscular disease, 1-13, 2018 | 75 | 2018 |
| Association study of exon variants in the NF-κB and TGFβ pathways identifies CD40 as a modifier of Duchenne muscular dystrophy L Bello, KM Flanigan, RB Weiss, DM Dunn, KJ Swoboda, E Gappmaier, ... The American Journal of Human Genetics 99 (5), 1163-1171, 2016 | 69 | 2016 |
| Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies P Spitali, K Hettne, R Tsonaka, M Charrout, J van den Bergen, Z Koeks, ... Journal of cachexia, sarcopenia and muscle 9 (4), 715-726, 2018 | 56 | 2018 |
| Autophagy is impaired in the tibialis anterior of dystrophin null mice P Spitali, P Grumati, M Hiller, M Chrisam, A Aartsma-Rus, P Bonaldo PLoS currents 5, 2013 | 52 | 2013 |
| Exon skipping‐mediated dystrophin reading frame restoration for small mutations P Spitali, P Rimessi, M Fabris, D Perrone, S Falzarano, M Bovolenta, ... Human mutation 30 (11), 1527-1534, 2009 | 51 | 2009 |
| Clinical trial preparedness in facioscapulohumeral muscular dystrophy: clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York R Tawil, GW Padberg, DW Shaw, SM van der Maarel, SJ Tapscott, ... Neuromuscular Disorders 26 (2), 181-186, 2016 | 49 | 2016 |
| Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy P Spitali, H Heemskerk, RHAM Vossen, A Ferlini, JT Den Dunnen, ... Laboratory investigation 90 (9), 1396-1402, 2010 | 49 | 2010 |
| Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene F Gualandi, P Rimessi, C Trabanelli, P Spitali, M Neri, T Patarnello, ... Gene 370, 26-33, 2006 | 49 | 2006 |
| TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy P Spitali, I Zaharieva, S Bohringer, M Hiller, A Chaouch, A Roos, ... European Journal of Human Genetics 28 (6), 815-825, 2020 | 41 | 2020 |
| DMD transcript imbalance determines dystrophin levels P Spitali, JC van den Bergen, IEC Verhaart, B Wokke, AAM Janson, ... The FASEB Journal 27 (12), 4909-4916, 2013 | 40 | 2013 |
| Premature termination codons in the DMD gene cause reduced local mRNA synthesis R García-Rodríguez, M Hiller, L Jiménez-Gracia, Z van der Pal, J Balog, ... Proceedings of the National Academy of Sciences 117 (28), 16456-16464, 2020 | 39 | 2020 |
| Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy M Signorelli, B Ayoglu, C Johansson, H Lochmüller, V Straub, F Muntoni, ... Journal of cachexia, sarcopenia and muscle 11 (2), 505-517, 2020 | 34 | 2020 |
Annemieke Aartsma-RusHoogleraar translationele genetica, Leids Universitair Medisch CentrumVerified email at lumc.nl
