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1

Molecular diagnosis of hypobetalipoproteinemia: An ENID review

Patrizia Tarugi, Maurizio Averna, Enza Di Leo, Angelo B. Cefalù, Davide Noto, Lucia Magnolo, Luigi Cattin, Stefano Bertolini, Sebastiano Calandra

Journal:

Atherosclerosis

Année:

2007

Langue:

english

Fichier:

PDF, 140 KB

english, 2007

2

The wide spectrum of steatohepatitis

Lonardo, Amedeo, Bagni, Alberto, Tarugi, Patrizia, Loria, Paola

Journal:

European Journal of Gastroenterology & Hepatology

Année:

2004

Langue:

english

Fichier:

PDF, 615 KB

english, 2004

3

Impact of rare variants in autosomal dominant hypercholesterolemia causing genes

Calandra, Sebastiano, Tarugi, Patrizia, Bertolini, Stefano

Journal:

Current Opinion in Lipidology

Année:

2017

Langue:

english

Fichier:

PDF, 236 KB

english, 2017

4

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: a comparison between Familial Hypobetalipoproteinemia (FHBL1) and Familial combined hypolipidemia (FHBL2)

Di Costanzo, Alessia, Di Leo, Enza, Noto, Davide, Cefalù, Angelo Baldassare, Minicocci, Ilenia, Polito, Luca, D’Erasmo, Laura, Cantisani, Vito, Spina, Rossella, Tarugi, Patrizia, Averna, Maurizio, Arc

Journal:

Journal of Clinical Lipidology

Année:

2017

Langue:

english

Fichier:

PDF, 1.82 MB

english, 2017

5

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

Rabacchi, Claudio, Simone, Maria Luisa, Pisciotta, Livia, Di Leo, Enza, Bocchi, Davide, Pietrangelo, Antonello, D'Addato, Sergio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia

Journal:

Journal of Clinical Lipidology

Année:

2019

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2019

6

Isolation of a cDNA clone for chick intestinal apolipoprotein AI (Apo-AI) and its use for detecting apo-AI mRNA expression in several chick tissues

Ferrari, Stefane, Drusiani, Enoe, Calandra, Sebastiane, Tarugi, Patrizia

Journal:

Année:

1986

Langue:

english

Fichier:

PDF, 653 KB

english, 1986

7

The complete sequence of chick apolipoprotein AI mRNA and its expression in the developing chick

Ferrari, Stefano, Tarugi, Patrizia, Drusiani, Enoe, Calandra, Sebastiano, Fregni, Marina

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 716 KB

english, 1987

8

Familial hypobetalipoproteinemia: Analysis of three Spanish cases with two new mutations in the APOB gene

Martín-Morales, R., García-Díaz, J.D., Tarugi, P., González-Santos, P., Saavedra-Vallejo, P., Magnolo, L., Mesa-Latorre, J.M., di Leo, E., Valdivielso, P.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 516 KB

english, 2013

9

A 54-Year-Old Diabetic Man with Low Serum Cholesterol

Turk, U., Basol, G., Barutcuoglu, B., Sahin, F., Habif, S., Tarugi, P., Bayindir, O.

Journal:

Clinical Chemistry

Année:

2012

Langue:

english

Fichier:

PDF, 70 KB

english, 2012

10

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

Noto, D., Cefalu, A. B., Valenti, V., Fayer, F., Pinotti, E., Ditta, M., Spina, R., Vigna, G., Yue, P., Kathiresan, S., Tarugi, P., Averna, M. R.

Journal:

Arteriosclerosis Thrombosis and Vascular Biology

Année:

2012

Langue:

english

Fichier:

PDF, 287 KB

english, 2012

11

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B

Yilmaz, Berna Seker, Mungan, Neslihan Onenli, Di Leo, Enza, Magnolo, Lucia, Artuso, Lucia, Bernardis, Isabella, Tumgor, Gokhan, Kor, Deniz, Tarugi, Patrizia

Journal:

Clinica Chimica Acta

Année:

2016

Langue:

english

Fichier:

PDF, 419 KB

english, 2016

12

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride

Buonuomo, Paola Sabrina, Rabacchi, Claudio, Macchiaiolo, Marina, Trenti, Chiara, Fasano, Tommaso, Tarugi, Patrizia, Bartuli, Andrea, Bertolini, Stefano, Calandra, Sebastiano

Journal:

Journal of Clinical Lipidology

Année:

2017

Langue:

english

Fichier:

PDF, 469 KB

english, 2017

13

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features

Bertolini, Stefano, Calandra, Sebastiano, Arca, Marcello, Averna, Maurizio, Catapano, Alberico L., Tarugi, Patrizia, Bartuli, Andrea, Bucci, Marco, Buonuomo, Paola Sabrina, CalabrÃ², Paolo, Casula, Ma

Journal:

Atherosclerosis

Année:

2020

Fichier:

PDF, 244 KB

2020

14

Ausschluss des Schwefelwasserstoffatoms aus der qualitativen Analyse. Dessen Ersatz durch Thioessigsäure

Robert Schiff, N. Tarugi

Journal:

European Journal of Inorganic Chemistry

Année:

1894

Langue:

german

Fichier:

PDF, 151 KB

german, 1894

15

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease

Enza Di Leo, Francesca Panico, Patrizia Tarugi, Carla Battisti, Antonio Federico, Sebastiano Calandra

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 406 KB

english, 2004

16

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

Dealba Gheduzzi, Rita Guidetti, Claudia Anzivino, Patrizia Tarugi, Enza Di Leo, Daniela Quaglino, Ivonne Pasquali Ronchetti

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 180 KB

english, 2004

17

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

Carla Battisti, Patrizla Tarugi, Maria Teresa Dotti, Nicola De Stefano, Angelo Vattimo, Francesea Chierichetti, Sebastiano Calandra, Antonio Federico

Journal:

Movement Disorders

Année:

2003

Langue:

english

Fichier:

PDF, 238 KB

english, 2003

18

Improvement in the high-performance liquid chromatography malondialdehyde level determination in normal human plasma

Nicola Volpi, Patrizia Tarugi

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Année:

1998

Langue:

english

Fichier:

PDF, 98 KB

english, 1998

19

Molecular analysis ofNPC1andNPC2gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations

Tatiana Fancello, Andrea Dardis, Camillo Rosano, Patrizia Tarugi, Barbara Tappino, Stefania Zampieri, Elisa Pinotti, Fabio Corsolini, Simona Fecarotta, Adele D’Amico, Maja Di Rocco, Graziella Uziel, S

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2009

20

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

S. Palmeri, P. Tarugi, F. Sicurelli, R. Buccoliero, A. Malandrini, M. M. De Santi, G. Marcianò, C. Battisti, M. T. Dotti, S. Calandra, A. Federico

Journal:

Neurological Sciences

Année:

2005

Langue:

english

Fichier:

PDF, 113 KB

english, 2005

21

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations

E Di Leo, L Magnolo, M Bertolotti, M Bourbon, S Carmo Pereira, M Pirisi, S Calandra, P Tarugi

Journal:

Clinical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 162 KB

english, 2008

22

Calciumcarbid

Journal:

Analytical and Bioanalytical Chemistry

Année:

1900

Langue:

german

Fichier:

PDF, 111 KB

german, 1900

23

Ueber das Verhalten der Thioessigsäure zu kalten Salzlösungen

Journal:

Analytical and Bioanalytical Chemistry

Année:

1897

Langue:

german

Fichier:

PDF, 65 KB

german, 1897

24

Den Nachweis minimaler Mengen von Arsen in organischen Substanzen

N. Tarugi, A. Bigazzi

Journal:

Analytical and Bioanalytical Chemistry

Année:

1909

Langue:

german

Fichier:

PDF, 56 KB

german, 1909

25

Bestimmung des Jods

F. A. Gooch, E. E. Perkins, N. Tarugi, P. Godfrin, P. Stüwe, H. Fresenius, E. Lasausse

Journal:

Analytical and Bioanalytical Chemistry

Année:

1921

Langue:

german

Fichier:

PDF, 258 KB

german, 1921

26

Saccharin

A. F. Lerrigo, A. L. Williams, J. H. Kastle, N. Tarugi, F. Lenci, A. Leys, L. Ekkert

Journal:

Analytical and Bioanalytical Chemistry

Année:

1929

Langue:

german

Fichier:

PDF, 118 KB

german, 1929

27

Zur titrimetrischen Bestimmung des Eisens

W. H. Gintl, A. E. Haswell, E. Rupp, L. Carcano, R. Namias, N. Tarugi, S. Silvatici

Journal:

Analytical and Bioanalytical Chemistry

Année:

1908

Langue:

german

Fichier:

PDF, 170 KB

german, 1908

28

Arsenxanthogenat in der chemischen Analyse

N. Tarugi, F. Sorbini

Journal:

Analytical and Bioanalytical Chemistry

Année:

1913

Langue:

german

Fichier:

PDF, 126 KB

german, 1913

29

Zur Zerstörung der organischen Substanz bei der Untersuchung auf Metallgifte

G. Meillère, N. Tarugi, D. Vitali

Journal:

Analytical and Bioanalytical Chemistry

Année:

1904

Langue:

german

Fichier:

PDF, 151 KB

german, 1904

30

Ersatz des Schwefelwasserstoffs durch Thioessigsäure

Robert Schiff, N. Tarugi

Journal:

Analytical and Bioanalytical Chemistry

Année:

1895

Langue:

german

Fichier:

PDF, 102 KB

german, 1895

31

Die Ermittelung von Blutflecken mit Hilfe der van Deen'schen Reaktion

Tarugi, Vitali, O. Rossel

Journal:

Analytical and Bioanalytical Chemistry

Année:

1904

Langue:

german

Fichier:

PDF, 100 KB

german, 1904

32

Cholesterol synthesis in freshly isolated human leukocytes

P. Tarugi, V. Romoli, F. Crovetti, S. Calandra

Journal:

Cellular and Molecular Life Sciences

Année:

1977

Langue:

english

Fichier:

PDF, 225 KB

english, 1977

33

Zur Bestimmung des Stickstoffs in Düngemitteln

Verbandes landwirtschaftlicher Versuchsstationen im Deutschen Reiche, K. Scharrer, K. Kürschner, A. Sander, J. M. Kolthoff, H. Burkardt, N. Tarugi, F. Mach, H. C. Müller, W. Selke, R. Fresenius

Journal:

Analytical and Bioanalytical Chemistry

Année:

1926

Langue:

german

Fichier:

PDF, 270 KB

german, 1926

34

Qualitative Analyse: Analysengänge, Trennungsmethoden und Reaktionen

A. Purgotti, J. Clarens, V. Macri, J. I. D. Hinds, Ph. E. Browning, S. E. Scott, G. S. Simpson, L. E. Porter, M. Polonovski, K. Zepf, N. Tarugi, L. J. Curtman, H. Dubin, R. Vivario, M. Wagenaar, N. Sc

Journal:

Analytical and Bioanalytical Chemistry

Année:

1925

Langue:

german

Fichier:

PDF, 1.22 MB

german, 1925

35

Quecksilbernachweis

J. M. Kolthoff, A. Thiel, D. A. Roche, C. Reichard, N. Tarugi, P. Bräuer, H. Hurt, J. A. Siemssen, P. Artmann, A. Abelmann, H. Moore, S. Beckinsale, Clarice E. Mallinson

Journal:

Analytical and Bioanalytical Chemistry

Année:

1923

Langue:

german

Fichier:

PDF, 282 KB

german, 1923

36

Cholesterol synthesis in isolated rat hepatocytes. In vitro effect of sterols and bile acids

S. Calandra, P. Tarugi, N. Battistini, F. Crovetti

Journal:

Experimental and Molecular Pathology

Année:

1979

Langue:

english

Fichier:

PDF, 1013 KB

english, 1979

37

Plasma and urine lipoproteins during the development of nephrotic syndrome induced in the rat by adriamycin

S. Calandra, P. Tarugi, M. Ghisellini, E. Gherardi

Journal:

Experimental and Molecular Pathology

Année:

1983

Langue:

english

Fichier:

PDF, 1.05 MB

english, 1983

38

Sequential expression during postnatal development of specific markers of junctional and free sarcoplasmic reticulum in chicken pectoralis muscle

Ernesto Damiani, Patrizia Tarugi, Sebastiano Calandra, Alfredo Margreth

Journal:

Developmental Biology

Année:

1992

Langue:

english

Fichier:

PDF, 6.82 MB

english, 1992

39

Hypobetalipoproteinemia with an apparently recessive inheritance due to a “de novo” mutation of apolipoprotein B

Sandra Lancellotti, Enza Di Leo, Junia Y. Penacchioni, Fiorella Balli, Laura Viola, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2004

Langue:

english

Fichier:

PDF, 362 KB

english, 2004

40

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Mohamed Najah, Enza Di Leo, Jelassi Awatef, Lucia Magnolo, Jgurim Imene, Elisa Pinotti, Mahjoub Bahri, Sihem Barsaoui, Ines Brini, Moncef Fekih, Mohamed Naceur Slimane, Patrizia Tarugi

Journal:

Clinica Chimica Acta

Année:

2009

Langue:

english

Fichier:

PDF, 440 KB

english, 2009

41

Pediatric gallstone disease in familial hypobetalipoproteinemia

Sandra Lancellotti, Marco Zaffanello, Enza Di Leo, Lorenzo Costa, Amedeo Lonardo, Patrizia Tarugi

Journal:

Journal of Hepatology

Année:

2005

Langue:

english

Fichier:

PDF, 156 KB

english, 2005

42

Hipobetalipoproteinemia familiar: caracterización clínica de una nueva mutación en el gen de la apolipoproteína B

Pedro Iglesias, Juan J. Díez, Patrizia Tarugi

Journal:

Medicina Clínica

Année:

2009

Fichier:

PDF, 196 KB

2009

43

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia

Enza Di Leo, Lucia Magnolo, Elisa Pinotti, Scipione Martini, Irene Cortella, Nicola Vitturi, Claudio Rabacchi, Alessia Wunsch, Francesco Pucci, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 463 KB

english, 2009

44

The C-terminal domain of apolipoprotein A-I is involved in ABCA1-driven phospholipid and cholesterol efflux

Elda Favari, Franco Bernini, Patrizia Tarugi, Guido Franceschini, Laura Calabresi

Journal:

Biochemical and Biophysical Research Communications

Année:

2002

Langue:

english

Fichier:

PDF, 150 KB

english, 2002

45

Liver steatosis and familial hypobetalipoproteinemia due to new apolipoprotein B truncated proteins

V. Molini, R. Bonardi, P. Tarugi, A.R. Cefalu, O. Guardamagna, I. Rabbone, E. Bugianesi, M.R. Averna

Journal:

Journal of Hepatology

Année:

2003

Langue:

english

Fichier:

PDF, 143 KB

english, 2003

46

351 Familial hypolipoproteinemia in steatosic patients

L.S. Croce, S. Lancellotti, E. Di Leo, P. Tarugi, L. Visintin, L. Cattin, C. Tiribelli

Journal:

Journal of Hepatology

Année:

2004

Langue:

english

Fichier:

PDF, 60 KB

english, 2004

47

The protective effect on Cu2+- and AAPH-mediated oxidation of human low-density lipoproteins depends on glycosaminoglycan structure

Nicola Volpi, Patrizia Tarugi

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 756 KB

english, 1999

48

56 A NOVEL HOMOZYGOUS MUTATION IN CETP GENE AS A CAUSE OF CETP DEFICIENCY IN A CAUCASIAN KINDRED

M. Gomaraschi, P. Nilsson, E. Pinotti, E. Favari, M.P. Adorni, F. Bernini, C.R. Sirtori, S. Calandra, G. Franceschini, P. Tarugi, L. Calabresi

Journal:

Nutrition, Metabolism and Cardiovascular Diseases

Année:

2008

Langue:

english

Fichier:

PDF, 46 KB

english, 2008

49

[21] FUNCTIONAL ANALYSIS OF A NOVEL LMF1 NONSENSE MUTATION ASSOCIATED TO SEVERE HYPERTRIGLYCERIDEMIA

A.B. Cefalù, D. Noto, M.L. Arpi, F. Yin, R. Spina, H. Hilden, C.M. Barbagallo, A. Carroccio, P. Tarugi, S. Squatrito, R. Vigneri, M.R. Taskinen, M. Péterfy, M.R. Averna

Journal:

Nutrition, Metabolism and Cardiovascular Diseases

Année:

2009

Langue:

english

Fichier:

PDF, 56 KB

english, 2009

50

[74] PLASMA NON CHOLESTEROL STEROLS IN PRIMARY HYPOBETALIPOPROTEINEMIA

D. Noto, A.B. Cefalù, G. Barraco, F. Fayer, M. Minà, P. Yue, P. Tarugi, G. Schonfeld, M.R. Averna

Journal:

Nutrition, Metabolism and Cardiovascular Diseases

Année:

2009

Langue:

english

Fichier:

PDF, 55 KB

english, 2009