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Higher Incidence of Mild Cognitive Impairment in Familial Hypercholesterolemia

The American journal of medicine, 2010-03, Vol.123 (3), p.267-274

2010

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Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine

PloS one, 2016-03, Vol.11 (3), p.e0150785-e0150785

2016

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Usefulness of Triglycerides-to–High-Density Lipoprotein Cholesterol Ratio for Predicting the First Coronary Event in Men

The American journal of cardiology, 2009-11, Vol.104 (10), p.1393-1397

2009

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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Neurology. Clinical practice, 2017-12, Vol.7 (6), p.499-511

2017

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Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia

Circulation. Cardiovascular genetics, 2014-12, Vol.7 (6), p.814-821

2014

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Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting

Journal of the American College of Cardiology, 2008-11, Vol.52 (19), p.1546-1553

2008

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Promoter variant −204A > C of the cholesterol 7α-hydroxylase gene: Association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells

Clinical nutrition (Edinburgh, Scotland), 2011-04, Vol.30 (2), p.239-246

2011

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Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect

Arteriosclerosis, thrombosis, and vascular biology, 2008-03, Vol.28 (3), p.580-586

2008

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The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias

Arteriosclerosis, thrombosis, and vascular biology, 2005-10, Vol.25 (10), p.2203-2208

2005

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Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia

Atherosclerosis, 2012-06, Vol.222 (2), p.449-455

2012

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Bicyclic Derivatives of L-Idonojirimycin as Pharmacological Chaperones for Neuronopathic Forms of Gaucher Disease

Chembiochem : a European journal of chemical biology, 2013-05, Vol.14 (8), p.943-949

2013

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Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis

Neuro-degenerative diseases, 2018-01, Vol.18 (4), p.208-215

2018

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Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation

Arteriosclerosis, thrombosis, and vascular biology, 2005-09, Vol.25 (9), p.1960-1965

2005

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Serum chitotriosidase activity is increased in subjects with atherosclerosis disease

Arteriosclerosis, thrombosis, and vascular biology, 2003-09, Vol.23 (9), p.1645-1652

2003

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Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia

Journal of clinical lipidology, 2016-07, Vol.10 (4), p.790-797

2016

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Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia

Atherosclerosis, 2010-02, Vol.208 (2), p.437-441

2010

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Simultaneous determination of oxysterols, phytosterols and cholesterol precursors by high performance liquid chromatography tandem mass spectrometry in human serum

Analytical methods, 2013-01, Vol.5 (9), p.2249

2013

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Dr Esperanza María Martorell Mateu

Clínica e investigación en arteriosclerosis (Internet, English ed.), 2018-09, Vol.30 (5), p.248-248

Pocoví, Miguel

2018

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Reliable Low-Density DNA Array Based on Allele-Specific Probes for Detection of 118 Mutations Causing Familial Hypercholesterolemia

Clinical chemistry (Baltimore, Md.), 2005-07, Vol.51 (7), p.1137-1144

2005

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Functional analysis of new 3′ untranslated regions genetic variants in genes associated with genetic hypercholesterolemias

Journal of clinical lipidology, 2017-03, Vol.11 (2), p.532-542

2017

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Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity

Human mutation, 2013-10, Vol.34 (10), p.1396-1403

2013

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Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

Human mutation, 2011-08, Vol.32 (8), p.868-872

2011

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PCSK9 continues surprising us

Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis, 2016-03, Vol.28 (2), p.79

Pocoví, Miguel

2016

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Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL

FEBS letters, 2005-08, Vol.579 (20), p.4503-4512

2005

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A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia

BMC medical genomics, 2014-04, Vol.7 (1), p.17-17

2014

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Higher Incidence of Mild Cognitive Impairment in Familial Hypercholesterolemia

Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine

Usefulness of Triglycerides-to–High-Density Lipoprotein Cholesterol Ratio for Predicting the First Coronary Event in Men

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia

Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting

Promoter variant −204A > C of the cholesterol 7α-hydroxylase gene: Association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells

Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect

The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia

Bicyclic Derivatives of L-Idonojirimycin as Pharmacological Chaperones for Neuronopathic Forms of Gaucher Disease

Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis

Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation

Serum chitotriosidase activity is increased in subjects with atherosclerosis disease

Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia

Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia

Simultaneous determination of oxysterols, phytosterols and cholesterol precursors by high performance liquid chromatography tandem mass spectrometry in human serum

Dr Esperanza María Martorell Mateu

Reliable Low-Density DNA Array Based on Allele-Specific Probes for Detection of 118 Mutations Causing Familial Hypercholesterolemia

Functional analysis of new 3′ untranslated regions genetic variants in genes associated with genetic hypercholesterolemias

Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity

Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

PCSK9 continues surprising us

Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL

A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia

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