Eva Trevisson

Eva Trevisson

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Eva Trevisson

Eva Trevisson

Publications by authors named "Eva Trevisson"

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64Publications

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Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype.

Clin Neurophysiol 2019 Nov 17;130(11):2134-2136. Epub 2019 Sep 17.

Department of Woman's and Child's Health, University Hospital of Padua, via Giustiniani, 3 - 35128 Padua, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2019.09.003DOI Listing
November 2019

Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations.

Cancers (Basel) 2019 Nov 14;11(11). Epub 2019 Nov 14.

Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.

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http://dx.doi.org/10.3390/cancers11111790DOI Listing
November 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

Mol Genet Genomic Med 2019 05 6;7(5):e616. Epub 2019 Mar 6.

Department of Women's and Children's Health, Clinical Genetics Unit, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/mgg3.616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503065PMC
May 2019

Vitamin K2 cannot substitute Coenzyme Q as electron carrier in the mitochondrial respiratory chain of mammalian cells.

Sci Rep 2019 Apr 25;9(1):6553. Epub 2019 Apr 25.

Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.

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http://www.nature.com/articles/s41598-019-43014-y
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http://dx.doi.org/10.1038/s41598-019-43014-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484000PMC
April 2019

Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration: A Study Using OCT Angiography.

Ophthalmol Retina 2018 08 6;2(8):827-835. Epub 2018 Jan 6.

Department of Ophthalmology, University of Padova, Padova, Italy; G. B. Bietti Foundation, IRCCS, Ocular Oncology and Toxicology Research Unit, Roma, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.oret.2017.12.001DOI Listing
August 2018

Clinical syndromes associated with Coenzyme Q deficiency.

Essays Biochem 2018 07 20;62(3):377-398. Epub 2018 Jul 20.

Centro Andaluz de Biología del Desarrollo and CIBERER, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CSIC-JA, Sevilla 41013, Spain

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http://essays.biochemistry.org/lookup/doi/10.1042/EBC2017010
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http://dx.doi.org/10.1042/EBC20170107DOI Listing
July 2018

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

Biochim Biophys Acta Bioenerg 2018 Apr 3;1859(4):244-252. Epub 2018 Feb 3.

Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Via Giustiniani 3 and IRP Città della Speranza, Corso Stati Uniti 4, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2018.01.004DOI Listing
April 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.

J Neurooncol 2017 Sep 2;134(2):279-287. Epub 2017 Jun 2.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.

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http://dx.doi.org/10.1007/s11060-017-2517-6DOI Listing
September 2017

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

Eur J Hum Genet 2017 02 14;25(3):371-375. Epub 2016 Dec 14.

Department of Woman and Child Health, Clinical Genetics Unit, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1038/ejhg.2016.176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5315512PMC
February 2017

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Hum Mol Genet 2016 10 4;25(19):4256-4265. Epub 2016 Aug 4.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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http://dx.doi.org/10.1093/hmg/ddw257DOI Listing
October 2016

Coenzyme Q biosynthesis in health and disease.

Biochim Biophys Acta 2016 Aug 7;1857(8):1079-1085. Epub 2016 Apr 7.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2016.03.036DOI Listing
August 2016

Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1.

Radiol Med 2016 Mar 7;121(3):214-7. Epub 2015 Oct 7.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, via Giustiniani 5, 35128, Padua, Italy.

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http://dx.doi.org/10.1007/s11547-015-0587-0DOI Listing
March 2016

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

JIMD Rep 2016 21;28:119-126. Epub 2015 Nov 21.

Clinical genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059204PMC
http://dx.doi.org/10.1007/8904_2015_514DOI Listing
November 2015

In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients.

Invest Ophthalmol Vis Sci 2015 Sep;56(10):6036-42

G.B. Bietti Foundation, IRCCS, Ocular Oncology and Toxicology Research Unit, Roma, Italy 3Department of Ophthalmology, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1167/iovs.14-16053DOI Listing
September 2015

Expanding the mutational spectrum of LZTR1 in schwannomatosis.

Eur J Hum Genet 2015 Jul 22;23(7):963-8. Epub 2014 Oct 22.

Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/ejhg.2014.220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463507PMC
July 2015

Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome.

J Dermatol Sci 2015 May 16;78(2):158-60. Epub 2015 Feb 16.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Italy.

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http://dx.doi.org/10.1016/j.jdermsci.2015.02.005DOI Listing
May 2015

Is there a link between COQ6 and schwannomatosis?

Genet Med 2015 Apr;17(4):312-3

Department of Woman and Child Health, Clinical Genetics Unit, University of Padova, Padua, Italy.

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http://dx.doi.org/10.1038/gim.2014.211DOI Listing
April 2015

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

J Inherit Metab Dis 2015 Jan 5;38(1):145-56. Epub 2014 Aug 5.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, Padova, 35128, Italy.

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http://dx.doi.org/10.1007/s10545-014-9749-9DOI Listing
January 2015

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.

Biochim Biophys Acta 2014 Nov 23;1841(11):1628-38. Epub 2014 Aug 23.

Clinical Genetics Unit, Dept. of Pediatrics, University of Padova, Via Giustiniani 3, Padova 35128, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbalip.2014.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331671PMC
November 2014

Genetics of coenzyme q10 deficiency.

Mol Syndromol 2014 Jul;5(3-4):156-62

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.

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http://dx.doi.org/10.1159/000362826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112527PMC
July 2014

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

Biochim Biophys Acta 2014 Jan 18;1842(1):1-6. Epub 2013 Oct 18.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy; IRP Città della Speranza, Padova, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2013.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898990PMC
January 2014

Optical coherence tomography in the diagnosis of optic pathway gliomas.

Invest Ophthalmol Vis Sci 2013 Dec 17;54(13):8112-8. Epub 2013 Dec 17.

GB Bietti Foundation, IRCCS, Ocular Oncology and Toxicology Research Unit, Rome, Italy.

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http://dx.doi.org/10.1167/iovs.13-13093DOI Listing
December 2013

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

Gene 2013 Jul 21;524(2):368-72. Epub 2013 Apr 21.

Child Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.

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http://dx.doi.org/10.1016/j.gene.2013.04.033DOI Listing
July 2013

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Hum Mutat 2013 Jan 17;34(1):229-36. Epub 2012 Oct 17.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/humu.22233DOI Listing
January 2013

Coenzyme Q deficiency in muscle.

Curr Opin Neurol 2011 Oct;24(5):449-56

Clinical Genetics Unit, Department of Pediatrics, University of Padova, Italy.

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http://dx.doi.org/10.1097/WCO.0b013e32834ab528DOI Listing
October 2011

The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue essential for cytochrome c oxidase biogenesis.

J Biol Chem 2010 May 10;285(20):15088-99. Epub 2010 Mar 10.

Department of Biochemistry and Molecular Biology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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http://dx.doi.org/10.1074/jbc.M110.104786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865262PMC
May 2010

Is CFTR 621+3 A>G a cystic fibrosis causing mutation?

J Hum Genet 2010 Jan 6;55(1):23-6. Epub 2009 Nov 6.

Clinical Genetics Unit, Department of Pediatrics, Universita di Padova, via Giustiniani 3, Padua, Italy.

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http://dx.doi.org/10.1038/jhg.2009.115DOI Listing
January 2010

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Neuromuscul Disord 2010 Jan 27;20(1):44-8. Epub 2009 Nov 27.

Centre de référence des Maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculté de Médicine, Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2009.10.014DOI Listing
January 2010

X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.

Am J Med Genet A 2009 Nov;149A(11):2464-8

Clinical Genetics Unit, Department of Pediatrics, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33039DOI Listing
November 2009

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.

J Hum Genet 2009 Jul 17;54(7):419-21. Epub 2009 Apr 17.

Centre de Référence des Maladies Neuromusculaires et CNRS UMR 6543, Faculté de Médécine, Université de Nice, Nice, France.

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http://dx.doi.org/10.1038/jhg.2009.36DOI Listing
July 2009

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Hum Genet 2008 Oct;124(3):303

Genetica Clinica-Dipartimento di Pediatria-Università di Padova, Padova, Giustiniani, 3, 35128 Padova, Italy.

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October 2008

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Hum Genet 2008 Oct;124(3):303

Genetica Clinica-Dipartimento di Pediatria-Università di Padova, Padova, Giustiniani, 3, 35128 Padova, Italy.

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October 2008

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.

Eur J Paediatr Neurol 2008 Jul 18;12(4):348-50. Epub 2007 Sep 18.

Department of Pediatrics, University of Padua, Via Giustiniani, 3, 35128 Padova, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2007.07.011DOI Listing
July 2008

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.

Clin Biochem 2008 Jun 20;41(9):697-700. Epub 2008 Mar 20.

Department of Clinical Biochemistry, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III. Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clinbiochem.2008.03.007DOI Listing
June 2008

Molecular analysis of two uncharacterized sequence variants of the VHL gene.

J Hum Genet 2006 28;51(11):964-8. Epub 2006 Sep 28.

Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128 Padua, Italy.

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http://dx.doi.org/10.1007/s10038-006-0054-9DOI Listing
January 2007

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Neurogenetics 2007 Jan 10;8(1):57-60. Epub 2006 Oct 10.

Clinical Genetics, Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128, Padua, Italy,

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http://dx.doi.org/10.1007/s10048-006-0065-xDOI Listing
January 2007

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Am J Hum Genet 2006 Feb 22;78(2):345-9. Epub 2005 Dec 22.

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1086/500092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380241PMC
February 2006

hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.

Biochem Biophys Res Commun 2005 Nov 29;337(3):832-9. Epub 2005 Sep 29.

INSERM U638, Faculté de Médicine, Université de Nice, France.

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http://dx.doi.org/10.1016/j.bbrc.2005.09.127DOI Listing
November 2005