Silvia Marchet

Silvia Marchet

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Silvia Marchet

Silvia Marchet

Publications by authors named "Silvia Marchet"

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Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Am J Med Genet A 2019 May 17;179(5):827-831. Epub 2019 Feb 17.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61092DOI Listing
May 2019

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

Transcription Factor EB Controls Metabolic Flexibility during Exercise.

Cell Metab 2017 01 20;25(1):182-196. Epub 2016 Dec 20.

Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Naples, Italy; Medical Genetics, Department of Pediatrics, Federico II University, Via Pansini 5, 80131 Naples, Italy; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2016.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241227PMC
January 2017

Interaction between NMDA glutamatergic and nitrergic enteric pathways during in vitro ischemia and reperfusion.

Eur J Pharmacol 2015 Mar 29;750:123-31. Epub 2015 Jan 29.

Department of Internal Medicine and Therapeutics, Section of Pharmacology, via Ferrata 9, I-27100 Pavia, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00142999150004
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http://dx.doi.org/10.1016/j.ejphar.2015.01.021DOI Listing
March 2015

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease.

Cell Metab 2014 Jun 8;19(6):1042-9. Epub 2014 May 8.

Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, 20133 Milan, Italy; MRC-Mitochondrial Biology Unit, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051987PMC
June 2014

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.

Mol Ther 2014 Jan 3;22(1):10-7. Epub 2013 Jul 3.

1] Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Milan, Italy [2] MRC-Mitochondrial Biology Unit, Cambridge, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S15250016163111
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http://dx.doi.org/10.1038/mt.2013.230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880585PMC
January 2014

Gastrointestinal stromal tumors--frequency, malignancy, and new prognostic factors: the experience of a single institution.

Pathol Res Pract 2008 4;204(4):219-33. Epub 2008 Mar 4.

Department of Human Morphology, Section of Anatomic Pathology, University of, Insubria and Ospedale di Circolo, Varese, Italy.

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http://dx.doi.org/10.1016/j.prp.2007.12.005DOI Listing
June 2008