Ileana Ferrero

Ileana Ferrero

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Ileana Ferrero

Ileana Ferrero

Publications by authors named "Ileana Ferrero"

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Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
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http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Hum Mutat 2013 Dec 23;34(12):1619-22. Epub 2013 Sep 23.

Unit of Molecular Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico "Carlo Besta", Milan, Italy.

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http://dx.doi.org/10.1002/humu.22441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028993PMC
December 2013

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Am J Hum Genet 2013 Aug 11;93(2):211-23. Epub 2013 Jul 11.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738821PMC
August 2013

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

Hum Mol Genet 2013 Feb 21;22(4):804-15. Epub 2012 Nov 21.

Department of Life Sciences, University of Parma, Parma 43124, Italy.

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http://dx.doi.org/10.1093/hmg/dds487DOI Listing
February 2013

Mitochondrial diseases and the role of the yeast models.

FEMS Yeast Res 2010 Dec 14;10(8):1006-22. Epub 2010 Oct 14.

Department of Cell and Developmental Biology, Pasteur Institute-Cenci Bolognetti Foundation, Sapienza University of Rome, Rome, Italy.

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https://academic.oup.com/femsyr/article-lookup/doi/10.1111/j
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http://dx.doi.org/10.1111/j.1567-1364.2010.00685.xDOI Listing
December 2010

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Nat Genet 2009 Jun 24;41(6):654-6. Epub 2009 May 24.

Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Center for Study of Children's Mitochondrial Disorders, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1038/ng.378DOI Listing
June 2009

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.

Neuromuscul Disord 2008 Jun 27;18(6):465-70. Epub 2008 May 27.

Department of Neuroscience, University of Modena, Modena, Italy.

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http://dx.doi.org/10.1016/j.nmd.2008.03.013DOI Listing
June 2008