Publications by authors named "Pietro Spitali"

34Publications

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

Proc Natl Acad Sci U S A 2020 07 2;117(28):16456-16464. Epub 2020 Jul 2.

Department of Human Genetics, Leiden University Medical Center, 2333ZA Leiden, The Netherlands

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http://dx.doi.org/10.1073/pnas.1910456117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7368324PMC
July 2020

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

Pharmacol Res 2020 Sep 12;159:104999. Epub 2020 Jun 12.

UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital Dubowitz Neuromuscular Centre, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, Great Ormond Street Hospital Trust, University College London, London, UK.

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http://dx.doi.org/10.1016/j.phrs.2020.104999DOI Listing
September 2020

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

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

Medical statistics, Department of Biomedical Data Science, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1093/bib/bbz074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373179PMC
July 2020

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

Methods Mol Biol 2018 ;1828:249-262

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://link.springer.com/10.1007/978-1-4939-8651-4_15
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http://dx.doi.org/10.1007/978-1-4939-8651-4_15DOI Listing
April 2019

Biomarkers of Duchenne muscular dystrophy: current findings.

Degener Neurol Neuromuscul Dis 2018 25;8:1-13. Epub 2018 Jan 25.

Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands,

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http://dx.doi.org/10.2147/DNND.S121099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053903PMC
January 2018

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

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

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.3233/JND-170234DOI Listing
July 2019

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

Proteomics Clin Appl 2016 Mar 8;10(3):290-9. Epub 2016 Jan 8.

Center for Proteomics and Metabolomics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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http://dx.doi.org/10.1002/prca.201500044DOI Listing
March 2016

Circulating Biomarkers for Duchenne Muscular Dystrophy.

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

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.3233/JND-150102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271432PMC
July 2015

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

Neuromuscul Disord 2015 May 23;25(5):446-7. Epub 2015 Feb 23.

Department of Human Genetics, Leiden University Medical Center, Postzone S4-P, P.O. Box 9600, Leiden 2300 RC, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.02.011DOI Listing
May 2015

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

Ann Neurol 2014 Sep 24;76(3):403-11. Epub 2014 Jul 24.

Department of Radiology, C. J. Gorter Center for High Field MRI, Leiden University Medical Center, Leiden; Leiden Institute for Brain and Cognition, Leiden; Department of Neurology, Leiden University Medical Center, Leiden.

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http://dx.doi.org/10.1002/ana.24222DOI Listing
September 2014

Fibronectin is a serum biomarker for Duchenne muscular dystrophy.

Proteomics Clin Appl 2014 Apr 11;8(3-4):269-78. Epub 2014 Mar 11.

Department of Human Genetics, Leiden University Medical Center (LUMC), RC, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/prca.201300072DOI Listing
April 2014

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

PLoS Curr 2013 Nov 22;5. Epub 2013 Nov 22.

Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.

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http://dx.doi.org/10.1371/currents.md.e1226cefa851a2f079bbc406c0a21e80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839594PMC
November 2013

DMD transcript imbalance determines dystrophin levels.

FASEB J 2013 Dec 23;27(12):4909-16. Epub 2013 Aug 23.

1Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1096/fj.13-232025DOI Listing
December 2013

Splice modulating therapies for human disease.

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

Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.cell.2012.02.014DOI Listing
March 2012

Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy.

Lab Invest 2010 Sep 10;90(9):1396-402. Epub 2010 May 10.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/labinvest.2010.98DOI Listing
September 2010

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

Neuromuscul Disord 2007 Dec 7;17(11-12):913-8. Epub 2007 Sep 7.

Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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http://dx.doi.org/10.1016/j.nmd.2007.07.005DOI Listing
December 2007