Livia Pisciotta

Livia Pisciotta

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Livia Pisciotta

Livia Pisciotta

Publications by authors named "Livia Pisciotta"

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PCSK9 inhibitors for treating hypercholesterolemia.

Expert Opin Pharmacother 2020 Jan 1:1-11. Epub 2020 Jan 1.

Clinic of Cardiovascular Diseases, University of Genoa, Genova, Italy.

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http://dx.doi.org/10.1080/14656566.2019.1702970DOI Listing
January 2020

A successful term pregnancy with severe hypertriglyceridaemia and acute pancreatitis. Clinical management and review of the literature.

Atheroscler Suppl 2019 Dec 17;40:117-121. Epub 2019 Aug 17.

Extracorporeal Therapeutic Techniques Unit, Lipid Clinic and Atherosclerosis Prevention Centre, Immunohematology and Transfusion Medicine, Department of Molecular Medicine, "Sapienza" University of Rome, "Umberto I" Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.032DOI Listing
December 2019

Homozygous familial hypercholesterolaemia in childhood - The first case report in Southeast Europe.

Atheroscler Suppl 2019 Dec 17;40:122-124. Epub 2019 Aug 17.

Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo.

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.034DOI Listing
December 2019

Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.

Neuropediatrics 2019 10 18;50(5):327-331. Epub 2019 Jul 18.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1055/s-0039-1692141DOI Listing
October 2019

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

Eur J Med Genet 2019 Sep 22;62(9):103555. Epub 2018 Oct 22.

Dept. of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183048
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http://dx.doi.org/10.1016/j.ejmg.2018.10.007DOI Listing
September 2019

In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.

J Clin Lipidol 2019 Nov - Dec;13(6):960-969. Epub 2019 Sep 12.

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2019.09.003DOI Listing
September 2019

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.

Seizure 2019 Aug 27;70:56-58. Epub 2019 Jun 27.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.06.029DOI Listing
August 2019

Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome.

Brain Dev 2019 Jun 20;41(6):522-530. Epub 2019 Feb 20.

Unit of Child Neuropsychiatry, Dept of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Dept. of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy.

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http://dx.doi.org/10.1016/j.braindev.2019.02.004DOI Listing
June 2019

Plasma PCSK9 levels and lipoprotein distribution are preserved in carriers of genetic HDL disorders.

Biochim Biophys Acta Mol Cell Biol Lipids 2018 09 29;1863(9):991-997. Epub 2018 May 29.

Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbalip.2018.05.015DOI Listing
September 2018

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics 2018 06 9;49(3):217-221. Epub 2018 Apr 9.

Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0038-1639372DOI Listing
June 2018

Short-term effect of rosuvastatin treatment on arterial stiffness in individuals with newly-diagnosed heterozygous familial hypercholesterolemia.

Int J Cardiol 2018 Mar 27;255:215-220. Epub 2017 Dec 27.

First Clinic of Internal Medicine, Department of Internal Medicine, Ospedale Policlinico San Martino, Genova, University of Genova, Largo Benzi 10, 16132 Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2017.12.051DOI Listing
March 2018

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Eur J Paediatr Neurol 2018 Mar 31;22(2):264-271. Epub 2018 Jan 31.

Child Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, Giannina Gaslini Institute, University of Genoa, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.010DOI Listing
March 2018

Toward an international consensus-Integrating lipoprotein apheresis and new lipid-lowering drugs.

J Clin Lipidol 2017 Jul - Aug;11(4):858-871.e3. Epub 2017 Apr 25.

Division of Clinical Pharmacology, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA.

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http://dx.doi.org/10.1016/j.jacl.2017.04.114DOI Listing
February 2018

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Orphanet J Rare Dis 2018 01 27;13(1):24. Epub 2018 Jan 27.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, 16132, Genoa, Italy.

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http://dx.doi.org/10.1186/s13023-018-0768-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787265PMC
January 2018

Cholesterol Lowering Therapy: Treat to Target or Reduce the Global Risk? The Unresolved Problem of Residual Risk.

Curr Pharm Des 2016 ;22(37):5676-5686

Department of Internal Medicine University of Genoa Viale Benedetto XV 6 16132 Genoa, Italy.

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http://dx.doi.org/10.2174/1381612822666160822143753DOI Listing
December 2017

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Cephalalgia 2017 Oct 19;37(12):1202-1206. Epub 2016 Sep 19.

1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1177/0333102416668655DOI Listing
October 2017

The study of familial hypercholesterolemia in Italy: A narrative review.

Atheroscler Suppl 2017 Oct;29:1-10

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosissup.2017.07.003DOI Listing
October 2017

Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients.

Brain Dev 2017 Jun 27;39(6):521-528. Epub 2017 Feb 27.

Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genoa, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.02.001DOI Listing
June 2017

Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report.

Arterioscler Thromb Vasc Biol 2016 08 14;36(8):1647-50. Epub 2016 Apr 14.

From the Inra UMR 1280, Université de Nantes, Faculté de Médecine, Nantes, France (A.T., M.P., S.P.-F., A.G., M.C., G.L.); Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands (B.S., G.D.-T., J.P., K.H.); Lipidology Division of Internal Medicine, University of Cape Town, Cape Town, South Africa (D.B.); Dipartimiento di Nefrologia Dialisi e Trapianto, SS Annunziata Hospital, Sassari, Italy (M.C., M.C.); University of Palermo, School of Medicine, Palermo, Italy (A.B.C., M.A.); University of Genoa, Genoa, Italy (L.P.); Lipid Clinic Heart Institute (InCor) University of Sao Paulo Medica School Hospital, Sao Paulo, Brazil (R.D.S.); Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa (F.R.); Dipartimento di Medicina Interna, Brotzu Hospital, Cagliari, Italy (P.P.); Inserm UMR 1188, Sainte Clotilde, France (G.L.); Université de la Réunion, Faculté de Médecine, Saint Denis de la Réunion, France (G.L.); and CHU de la Réunion, Saint-Denis de la Réunion, France (G.L.).

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http://dx.doi.org/10.1161/ATVBAHA.116.307493DOI Listing
August 2016

Lipoproteins, stroke and statins.

Curr Vasc Pharmacol 2015 ;13(2):202-8

Clinic of Internal Medicine 1, University of Genoa School of Medicine, Viale Benedetto XV 6, 16132 Genoa, Italy.

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http://dx.doi.org/10.2174/15701611113116660166DOI Listing
February 2016

Testing the Short-Term Efficacy of a Lipid-Lowering Nutraceutical in the Setting of Clinical Practice: A Multicenter Study.

J Med Food 2015 Nov 14;18(11):1270-3. Epub 2015 Aug 14.

4 Internal Medicine and Medical Specialties Biomedical Department, University of Palermo , Palermo, Italy .

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http://dx.doi.org/10.1089/jmf.2015.0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4638196PMC
November 2015

Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH).

J Clin Lipidol 2015 Jan-Feb;9(1):103-6. Epub 2014 Aug 30.

Department of Internal Medicine, University of Genova, Italy.

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http://dx.doi.org/10.1016/j.jacl.2014.08.009DOI Listing
October 2015

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

Atherosclerosis 2015 Jul 1;241(1):79-86. Epub 2015 May 1.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2015.04.815DOI Listing
July 2015

Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e.

Clin Med Insights Case Rep 2013 5;6:189-96. Epub 2013 Dec 5.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia.

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http://dx.doi.org/10.4137/CCRep.S12209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859823PMC
December 2013

A silent mutation of Niemann-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias.

J Clin Lipidol 2013 Mar-Apr;7(2):147-52. Epub 2012 Dec 20.

Department of Clinical and Experimental Medicine, Internal Medicine, Angiology and Atherosclerosis, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1016/j.jacl.2012.12.003DOI Listing
August 2013

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Atherosclerosis 2013 Apr 19;227(2):342-8. Epub 2013 Jan 19.

Department of Internal Medicine, University of Genova, Viale Benedetto XV, no. 6, I-16132 Genova, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2013.01.007DOI Listing
April 2013

A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment.

Atheroscler Suppl 2013 Jan;14(1):73-6

Extracorporeal Therapeutic Unit, Immunohematology and Transfusion Medicine, Department of Molecular Medicine, University of Rome Sapienza, Umberto I' Hospital, 155, Viale del Policlinico, I-00161 Rome, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosissup.2012.10.020DOI Listing
January 2013

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Mol Genet Metab 2012 Mar 17;105(3):450-6. Epub 2011 Dec 17.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, Modena, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.008DOI Listing
March 2012

Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.

Clin Chim Acta 2011 Nov 7;412(23-24):2194-8. Epub 2011 Aug 7.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV n. 6, 16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.cca.2011.08.001DOI Listing
November 2011

Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease.

Clin Chim Acta 2010 Apr 20;411(7-8):524-30. Epub 2010 Jan 20.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Italy.

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http://dx.doi.org/10.1016/j.cca.2010.01.008DOI Listing
April 2010

An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.

Clin Chim Acta 2009 Aug 23;406(1-2):75-80. Epub 2009 May 23.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.cca.2009.05.017DOI Listing
August 2009

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.

Mol Genet Metab 2009 Jun 26;97(2):143-8. Epub 2009 Feb 26.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2009.02.007DOI Listing
June 2009

A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia.

Atherosclerosis 2008 May 24;198(1):145-51. Epub 2007 Oct 24.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2007.09.017DOI Listing
May 2008

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Atherosclerosis 2007 Oct 30;194(2):e116-22. Epub 2006 Nov 30.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2006.10.036DOI Listing
October 2007

Molecular characterization of two patients with severe LCAT deficiency.

Nephrol Dial Transplant 2007 Aug 25;22(8):2379-82. Epub 2007 May 25.

Cardiovascular Research Group, University of Manchester, Manchester Royal Infirmary, Manchester, UK.

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http://dx.doi.org/10.1093/ndt/gfm311DOI Listing
August 2007

LCAT deficiency: molecular and phenotypic characterization of an Italian family.

J Nephrol 2006 May-Jun;19(3):375-81

Department of Biomedical Sciences, University of Foggia, Foggia, Italy.

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September 2006

Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.

J Lipid Res 2005 Apr 1;46(4):817-22. Epub 2005 Feb 1.

Department of Biomedical Sciences, University of Modena & Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1194/jlr.D400038-JLR200DOI Listing
April 2005

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia.

Arterioscler Thromb Vasc Biol 2005 Feb 9;25(2):411-7. Epub 2004 Dec 9.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Italy.

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http://dx.doi.org/10.1161/01.ATV.0000153087.36428.ddDOI Listing
February 2005

Effect of statins on LDL particle size in patients with familial combined hyperlipidemia: a comparison between atorvastatin and pravastatin.

Nutr Metab Cardiovasc Dis 2005 Feb;15(1):47-55

Center E. Grossi Paoletti, Department of Pharmacological Sciences, University of Milano, Via Balzaretti 9, 20133 Milano, Italy.

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http://dx.doi.org/10.1016/j.numecd.2004.08.001DOI Listing
February 2005

A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene.

Nephrol Dial Transplant 2004 Jun;19(6):1622-4

Nephrology, Dialysis and Renal Transplantation Unit, St Orsola University Hospital, Via Massarenti 9, 40137 Bologna, Italy.

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http://dx.doi.org/10.1093/ndt/gfh179DOI Listing
June 2004

Investigation into the role of apolipoprotein B gene 8344C/T variant on plasma cholesterol levels by allele-specific PCR amplification.

Ann Ist Super Sanita 2002 ;38(4):411-8

Laboratorio di Metabolismo e Biochimica Patologica, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Roma.

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June 2003

A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.

Biochim Biophys Acta 2002 May;1587(1):7-11

Department of Internal Medicine, University of Genoa, Viale Benedetto XV, 6 16132, Italy.

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http://dx.doi.org/10.1016/s0925-4439(02)00047-9DOI Listing
May 2002