2023

Spatial transcriptomics reveal markers of histopathological changes in Duchenne muscular dystrophy mouse models.

Heezen LGM, Abdelaal T, van Putten M, Aartsma-Rus A, Mahfouz A, Spitali P.

Nat Commun. 2023 Aug 15;14(1):4909.

Orthogonal proteomics methods warrant the development of Duchenne muscular dystrophy biomarkers.

Johansson C, Hunt H, Signorelli M, Edfors F, Hober A, Svensson AS, Tegel H, Forstström B, Aartsma-Rus A, Niks E, Spitali P, Uhlén M, Szigyarto CA.

Clin Proteomics. 2023 Jun 12;20(1):23.

Diffusion-tensor magnetic resonance imaging captures increased skeletal muscle fibre diameters in Becker muscular dystrophy.

Cameron D, Abbassi-Daloii T, Heezen LGM, van de Velde NM, Koeks Z, Veeger TTJ, Hooijmans MT, El Abdellaoui S, van Duinen SG, Verschuuren JJGM, van Putten M, Aartsma-Rus A, Raz V, Spitali P, Niks EH, Kan HE.

J Cachexia Sarcopenia Muscle. 2023 May 1. Jun;14(3):1546-1557.

Multiomic characterization of disease progression in mice lacking dystrophin.

Signorelli M, Tsonaka R, Aartsma-Rus A, Spitali P.

PLoS One. 2023 Mar 31;18(3):e0283869.

Longitudinal Assessment of Creatine Kinase, Creatine/Creatinine ratio and Myostatin as Monitoring Biomarkers in Becker Muscular Dystrophy.

van de Velde NM, Koeks Z,  Signorelli M, Verwey N,  Overzier M,  Bakker JA,  Sajeev G, Signorovitch J,  Ricotti V,  Verschuuren J,  Brown K,  Spitali P,  Niks EH.

Neurology. 2023 Feb 28;100(9):e975-e984.

2022

Histone deacetylase inhibitors improve antisense-mediated exon-skipping efficacy in mdx mice.

Bizot F, Goossens R, Tensorer T, Dmitriev S, Garcia L, Aartsma-Rus A, Spitali P, Goyenvalle A.

Mol. Ther. Nucl. Acids. 2022 Nov 21;30:606-620.

Value of Global Longitudinal Strain for Identification and Monitoring of Left Ventricular Dysfunction in Becker Muscular Dystrophy.

van de Velde NM, Gegenava T, Koeks Z, Butcher SC, Roest AA, Bax JJ, Atsma DE, Spitali P, Ajmone Marsan N, Niks EH.

Am J Cardiol. 2022 Jan 1;162:170-176.

2021

Penalized regression calibration: a method for the prediction of survival outcomes using complex longitudinal and high-dimensional data.

Signorelli M, Spitali P, Szigyarto CAK, MARK-MD Consortium, Tsonaka R.

Stat Med. 2021. Nov 30;40(27):6178-6196.

Plasma lipidomic analysis shows a disease progression signature in mdx mice.

Tsonaka R, Seyer A, Aartsma-Rus A, Spitali P.

Sci Rep. 2021 Jun 21;11(1):12993.

Pathway testing for longitudinal metabolomics.

Ebrahimpoor M, Spitali P, Goeman JJ, Tsonaka R.

Stat Med. 2021 Jun 15;40(13):3053-3065.

Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay.

Koeks Z, Janson AA, Beekman C, Signorelli M, van Duyvenvoorde HA, van den Bergen JC, Hooijmans MT, Alleman I, Hegeman IM, Verschuuren JJGM, V Deutekom JC, Spitali P, Datson NA, Niks EH.

Sci Rep. 2021 Mar 15;11(1):5952.

Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients.

Signorelli M, Ebrahimpoor M, Veth O, Hettne K, Verwey N, García-Rodríguez R, Tanganyika-de Winter C, Lopez Hernandez LB, Escobar Cedillo R, Gómez Díaz B, Magnusson O, Mei H, Tsonaka R, Aartsma-Rus A, Spitali P.

EMBO Mol Med. 2021 Apr 9;13(4):e13328. doi: 10.15252/emmm.202013328.

2020

The mRNA Binding Proteome of Proliferating and Differentiated Muscle Cells.

Hiller M, Geissler M, Janssen G, van Veelen P, Aartsma-Rus A, Spitali P.

Genomics Proteomics and Bioinformatics. 2020. Aug;18(4):384-396.

Negative Binomial mixed models under the maximum likelihood method can be used for longitudinal RNAseq data.

Tsonaka R, Spitali P.

Brief Bioinform. 2020 Nov 5:bbaa264.

Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients.

Signorelli M, Mason AG, Mul K, Evangelista T, Mei H, Voermans N, Tapscott SJ, Tsonaka R, van Engelen BGM, van der Maarel SM, Spitali P.

Sci Rep. 2020. Oct 16;10(1):17547.

Poisson–Tweedie mixed-effects model: A flexible approach for the analysis of longitudinal RNA-seq data.

Signorelli M, Spitali P, Tsonaka R.

Statistical Modelling. 2020. Aug 24; 21(6)

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.

Passarelli C, Selvatici R, Carrieri A, Di Raimo FR, Falzarano MS, Fortunato F, Rossi R, Straub V, Bushby K, Reza M, Zharaieva I, D'Amico A, Bertini E, Merlini L, Sabatelli P, Borgiani P, Novelli G, Messina S, Pane M, Mercuri E, Claustres M, Tuffery-Giraud S, Aartsma-Rus A, Spitali P, T'Hoen PAC, Lochmüller H, Strandberg K, Al-Khalili C, Kotelnikova E, Lebowitz M, Schwartz E, Muntoni F, Scapoli C, Ferlini A.

Front Genet. 2020 Jul 3;11:605.

Premature termination codons in the DMD gene cause reduced local mRNA synthesis.

García-Rodríguez R, Hiller M, Jiménez-Gracia L, van der Pal Z, Balog J, Adamzek K, Aartsma-Rus A, Spitali P.

Proc Natl Acad Sci U S A. 2020 Jul 14;117(28):16456-16464.

Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy.

Previtali SC, Gidaro T, Díaz-Manera J, Zambon A, Carnesecchi S, Roux-Lombard P, Spitali P, Signorelli M, Szigyarto CA, Johansson C, Gray J, Labolle D, Porte Thomé F, Pitchforth J, Domingos J, Muntoni F.

Pharmacol Res. 2020 Sep;159:104999.

Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy.

Strandberg K, Ayoglu B, Roos A, Reza M, Niks E, Signorelli M, Fasterius E, Pontén F, Lochmüller H, Domingos J, Ala P, Muntoni F, Aartsma-Rus A, Spitali P, Nilsson P, Szigyarto CA.

J Neuromuscul Dis. 2020;7(3):231-246.

Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models.

Tsonaka R, Signorelli M, Sabir E, Seyer A, Hettne K, Aartsma-Rus A, Spitali P.

Hum Mol Genet. 2020 Mar 27;29(5):745-755.

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators, Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A.

Eur J Hum Genet. 2020 Jun;28(6):815-825.

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.

Signorelli M, Ayoglu B, Johansson C, Lochmüller H, Straub V, Muntoni F, Niks E, Tsonaka R, Persson A, Aartsma-Rus A, Nilsson P, Al-Khalili Szigyarto C, Spitali P.

J Cachexia Sarcopenia Muscle. 2020 Apr;11(2):505-517.

Simultaneous Enrichment Analysis of all Possible Gene-sets: Unifying Self-Contained and Competitive Methods.

Ebrahimpoor M, Spitali P, Hettne K, Tsonaka R, Goeman J.

Brief Bioinform. 2020 Jul 15;21(4):1302-1312.

2019

Meeting on data sharing for Duchenne 21-22 March 2019 Amsterdam, the Netherlands.

Verhaart IEC, 't Hoen PAC, Roos M, Vroom E; Workshop Participants.

Neuromuscul Disord. 2019 Oct;29(10):800-810.

2018

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.

Hiller M, Falzarano MS, Garcia-Jimenez I, Sardone V, Verheul RC, Popplewell L, Anthony K, Ruiz-Del-Yerro E, Osman H, Goeman JJ, Mamchaoui K, Dickson G, Ferlini A, Muntoni F, Aartsma-Rus A, Arechavala-Gomeza V, Datson NA, Spitali P.

PLoS One. 2018 Oct 2;13(10):e0204485.

Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice.

Hiller M, Spitali P, Datson N, Aartsma-Rus A.

Methods Mol Biol. 2018;1828:249-262.

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies.

Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili- Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A.

J Cachexia Sarcopenia Muscle. 2018. Aug;9(4):715-726

Biomarkers of Duchenne muscular dystrophy: current findings.

Al-Khalili-Szigyarto C and Spitali P.

Degenerative Neurological and Neuromuscular Disease. 2018. Jan 25;8:1-13

Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy.

Spitali P, Hettne K, Tsonaka R, Sabir E, Seyer A, Hemerik JBA, Goeman JJ, Picillo E, Ergoli M, Politano L, Aartsma-Rus A.

J Cell Mol Med. 2018 Apr;22(4):2442-2448. 2018.

Meeting report of the 226th ENMC workshop “Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy”.

Aartsma-Rus A, Ferlini A, McNally E., Spitali P, Sweeney HL.

Neuromuscul Disord. 2018. Jan;28(1):77-86.

2017

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

Lourbakos A, Yau N, de Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, Reza M, Wolterbeek R, Koeks Z, Ayoglu B, de Klerk D, Campion G, Zaharieva I, Nadarajah VD, Nilsson P, Al-Khalili Szigyarto C, Muntoni F, Lochmüller H, Verschuuren JJ, Goemans N, Tulinius M, Niks EH, de Kimpe S, Aartsma-Rus A, 't Hoen PAC, Spitali P.

Sci Rep. 2017 Dec 20;7(1):17888.

Cytokine profiling in serum allows monitoring of disease progression in patients with inclusion body myositis.

Badrising UA, Tsonaka R, Hiller M, Niks EH, Lochmüller H, Aartsma-Rus A and Spitali P.

J Neuromuscul Dis. 2017. 4(4):327-335.

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA.

Hoffman EP; Workshop Participants; TREAT-NMD Alliance.

Neuromuscul Disord. 2017. Jul;27(7):693-701.

2016

Association study of exon variants in the NF-κB and TGFβ pathways identifies CD40 as a modifier of Duchenne muscular dystrophy.

Bello L, Flanigan K, Weiss R, United Dystrophinopathy Project, Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A,  Mercuri E, Tuffery-Giraud S, Claustres M, Straub S, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald C, Hoffman E, Cooperative International Neuromuscular Research Group.

Am J Hum Genet. 2016. 3;99(5):1163-1171.

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York.

Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ, FSHD Workshop Participants.

Neuromuscul Disord. 2016 Feb;26(2):181-6.

Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients.

Oonk S, Spitali P, Hiller M, Switzar L, Dalebout H, Calissano M, Lochmüller H, Aartsma-Rus A, Hoen PA, van der Burgt YE.

Proteomics Clin Appl. 2016. 10(3):290-9.

2015

Response to: Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy.

Spitali P, Aartsma-Rus A, 't Hoen PA.

Neuromuscul Disord. 2015. May;25(5):446-7

Circulating Biomarkers for Duchenne Muscular Dystrophy.

Aartsma-Rus A and Spitali P.

J Neuromuscul Dis. 2015. Jul 22;2(s2):S49-S58.

2014

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P.

J Neurol Neurosurg Psychiatry. 2014. 86(10):1060-5.

Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy.

Doorenweerd N, Straathof CS, Dumas EM, Spitali P, Ginjaar IB, Wokke BH, Schrans DG, van den Bergen JC, van Zwet EW, Webb A, van Buchem MA, Verschuuren JJ, Hendriksen JG, Niks EH, Kan HE.

Ann Neurol. 2014. 76(3):403-11.

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.

Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlén M, Cirak S, 't Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C.

EMBO Mol Med. 2014. Jul;6(7):918-36.

Fibronectin is a serum biomarker for Duchenne muscular dystrophy.

Cynthia Martin F, Hiller M, Spitali P, Oonk S, Dalebout H, Palmblad M, Chaouch A, Guglieri M, Straub V, Lochmüller H, Niks EH, Verschuuren JJ, Aartsma-Rus A, Deelder AM, van der Burgt YE, 't Hoen PA.

Proteomics Clin Appl. 2014. 8(3-4):269-78.

2013

Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice.

Spitali P, Grumati P, Hiller M, Chrisam M, Aartsma-Rus A, Bonaldo P.

PLoS Curr. 2013. Nov 22;5

DMD transcript imbalance determines dystrophin levels.

Spitali P, van den Bergen JC, Verhaart IEC, Wokke B, Janson AM, van den Eijnde R, den Dunnen JT, Laros JF, Verschuuren JJGM, ‘t Hoen PAC and Aartsma-Rus A.

FASEB J. 2013. ;27(12):4909-16.

2012

Progress in the development of splicing modulating therapies for human disease.

Spitali P, Aartsma-Rus A.

Cell. 2012 Mar 16;148(6):1085-8.

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A.

BMC Med Genet. 2012. Mar 28;13:20.

2010

Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy.

Spitali P, Heemskerk H, Vossen R, Ferlini A, den Dunnen J, ’t Hoen P and Aartsma-Rus A.

Lab Invest. 2010. 90(9):1396-402.

2009

Exon skipping-mediated dystrophin reading frame restoration for small mutations.

Spitali P, Rimessi P, Fabris M, Perrone D, Falzarano S, Bovolenta M, Trabanelli C, Mari L, Bassi E, Tuffery S, Gualandi F, Maraldi NM, Sabatelli-Giraud P, Medici A, Merlini L, Ferlini A.

Hum Mutat. 2009. 30(11):1527-34.

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.

Rimessi P, Sabatelli P, Fabris M, Braghetta P, Bassi E, Spitali P, Vattemi G, Tomelleri G, Mari L, Perrone D, Medici A, Neri M, Bovolenta M, Martoni E, Maraldi NM, Gualandi F, Merlini L, Ballestri M, Tondelli L, Sparnacci K, Bonaldo P, Caputo A, Laus M, Ferlini A.

Mol Ther. 2009. 17(5):820-7.

Transcriptional behavior of DMD gene duplications in DMD/BMD males.

Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A.

Hum Mutat. 2009. 30(2):E310-9.

2008

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.

Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J,  Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A.

BMC Genomics. 2008. Nov 28;9:572.

2007

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.

Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, Spitali P, Rimessi P, Gualandi F, Sewry C, Ferlini A, Muntoni F.

Neuromuscul Disord. 2007. 17(11-12):913-8.

2006

Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.

Rimessi P, Spitali P, Ando Y, Mazzaferro V, Pastorelli F, Tassinari CA, Calzolari E, Salvi F, Ferlini A.

Liver Int. 2006. 26(2):211-20.

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.

Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A.

Gene. 2006. 29;370:26-33.

2005

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A.

Am J Med Genet A. 2005. 132A(4):391-4.