Flavia Blasevich

Flavia Blasevich

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Flavia Blasevich

Flavia Blasevich

Publications by authors named "Flavia Blasevich"

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13Publications

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Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.

Biochim Biophys Acta Mol Basis Dis 2020 Jan 7;1866(5):165662. Epub 2020 Jan 7.

Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, 20133, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2020.165662DOI Listing
January 2020

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis.

Matrix Biol 2018 12 5;74:77-100. Epub 2018 Jul 5.

Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2018.07.003DOI Listing
December 2018

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.

Acta Neuropathol Commun 2018 12 19;6(1):141. Epub 2018 Dec 19.

Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Temolo 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1186/s40478-018-0648-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299540PMC
December 2018

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Neuromuscul Disord 2017 May 17;27(5):481-486. Epub 2017 Jan 17.

Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, pz Buonarroti 30, Milan 20145, Italy; Department of Psychology, Catholic University of the Sacred Heart, Largo Gemelli, 1, Milan 20123, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424884PMC
May 2017

Pure myopathy with enlarged mitochondria associated to a new mutation in gene.

Mol Genet Metab Rep 2017 Mar 15;10:24-27. Epub 2016 Dec 15.

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2016.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217772PMC
March 2017

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

Eur J Pediatr 2016 Aug 16;175(8):1113-8. Epub 2016 Jan 16.

Unit of Child Neurology, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1007/s00431-015-2685-3DOI Listing
August 2016

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.

Sci Rep 2016 Feb 4;6:20466. Epub 2016 Feb 4.

Neuromuscular Diseases and Neuroimmunology Unit, IRCCS Neurological Institute C. Besta, Milano, Italy.

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http://dx.doi.org/10.1038/srep20466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740890PMC
February 2016

Familial adult-onset Pompe disease associated with unusual clinical and histological features.

Acta Myol 2013 Oct;32(2):85-90

Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3866895PMC
October 2013

Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy.

Neuromuscul Disord 2010 May 7;20(5):326-9. Epub 2010 Mar 7.

Neuromuscular Diseases and Neuroimmunology Unit, C. Besta National Neurological and Foundation, Via Temolo 4, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2010.02.003DOI Listing
May 2010

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.

Neuromuscul Disord 2008 Dec 5;18(12):962-6. Epub 2008 Nov 5.

Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C. Besta, Via Temolo 4, 20126 Milano, Italy.

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http://dx.doi.org/10.1016/j.nmd.2008.09.008DOI Listing
December 2008