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Page 1
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. Spitali P, et al. J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):715-726. doi: 10.1002/jcsm.12304. Epub 2018 Apr 16. J Cachexia Sarcopenia Muscle. 2018. PMID: 29682908 Free PMC article.
Splice modulating therapies for human disease.
Spitali P, Aartsma-Rus A. Spitali P, et al. Cell. 2012 Mar 16;148(6):1085-8. doi: 10.1016/j.cell.2012.02.014. Cell. 2012. PMID: 22424220 Free article. Review.
DMD transcript imbalance determines dystrophin levels.
Spitali P, van den Bergen JC, Verhaart IE, Wokke B, Janson AA, van den Eijnde R, den Dunnen JT, Laros JF, Verschuuren JJ, 't Hoen PA, Aartsma-Rus A. Spitali P, et al. FASEB J. 2013 Dec;27(12):4909-16. doi: 10.1096/fj.13-232025. Epub 2013 Aug 23. FASEB J. 2013. PMID: 23975932
Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice.
Spitali P, Grumati P, Hiller M, Chrisam M, Aartsma-Rus A, Bonaldo P. Spitali P, et al. PLoS Curr. 2013 Nov 22;5:ecurrents.md.e1226cefa851a2f079bbc406c0a21e80. doi: 10.1371/currents.md.e1226cefa851a2f079bbc406c0a21e80. PLoS Curr. 2013. PMID: 24292657 Free PMC article.
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. Cynthia Martin F, et al. Among authors: spitali p. Proteomics Clin Appl. 2014 Apr;8(3-4):269-78. doi: 10.1002/prca.201300072. Epub 2014 Mar 11. Proteomics Clin Appl. 2014. PMID: 24458521
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. Ayoglu B, et al. Among authors: spitali p. EMBO Mol Med. 2014 Jul;6(7):918-36. doi: 10.15252/emmm.201303724. EMBO Mol Med. 2014. PMID: 24920607 Free PMC article.
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. van den Bergen JC, et al. Among authors: spitali p. J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476005 Free PMC article.
55 results