E. Di Leo

发表

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.

P. Tarugi, M. Najah, E. Di Leo, 2009, Clinica chimica acta; international journal of clinical chemistry.

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

P. Tarugi, S. Calandra, M. Najah, 2013, Gene.

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

S. Bertolini, F. Balli, P. Tarugi, 2004, Biochimica et biophysica acta.

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

D. Quaglino, D. Gheduzzi, P. Tarugi, 2004, Human mutation.

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.

D. Noto, I. Minicocci, A. Di Costanzo, 2017, Journal of clinical lipidology.

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

P. Tarugi, E. Di Leo, L. Magnolo, 2013, Gene.

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

S. Bertolini, C. Gabelli, P. Tarugi, 2005, Atherosclerosis.

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.

İ. Okur, P. Tarugi, E. Di Leo, 2015, Journal of clinical lipidology.

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

M. Bourbon, M. Pirisi, P. Tarugi, 2008, Clinical Genetics.

Pediatric gallstone disease in familial hypobetalipoproteinemia.

A. Lonardo, M. Zaffanello, P. Tarugi, 2005, Journal of hepatology.

The use of diacetin in pre-staining serum lipoproteins.

E. Di Leo, P. Solinas, R. Betti, 1957, Clinica chimica acta; international journal of clinical chemistry.

Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.

M. Hussain, M. Walsh, P. Tarugi, 2016, Biochimica et biophysica acta.

Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal &bgr;-Barrel in Microsomal Triglyceride Transfer Protein Function

M. Hussain, J. Iqbal, M. Walsh, 2015, Circulation. Cardiovascular genetics.

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

I. Cortella, N. Vitturi, S. Bertolini, 2009, Molecular genetics and metabolism.

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

C. Tiribelli, S. Bertolini, P. Tarugi, 2006, Journal of Medical Genetics.

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

A. Federico, C. Battisti, P. Tarugi, 2004, Human mutation.

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

A. Federico, B. Bembi, C. Battisti, 2002, Journal of lipid research.

A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

D. Noto, P. Tarugi, O. Guardamagna, 2007, Arteriosclerosis, thrombosis, and vascular biology.

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

D. Noto, S. Bertolini, P. Tarugi, 2007, Atherosclerosis.

Nonsynonymous Mutations within APOB in Human Familial Hypobetalipoproteinemia

D. Figeys, Hulping Zhou, Z. Yao, 2009, The Journal of Biological Chemistry.

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

S. Bertolini, M. L. Simone, A. Pietrangelo, 2019, Journal of clinical lipidology.

Novel mutations of SAR1B gene in four children with chylomicron retention disease.

S. Bertolini, Z. Kuloğlu, A. Kansu, 2019, Journal of clinical lipidology.

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

N. Mungan, I. Bernardis, L. Artuso, 2016, Clinica chimica acta; international journal of clinical chemistry.

Nonsynonymous Mutations within APOB in Human Familial Hypobetalipoproteinemia

D. Figeys, Hulping Zhou, Z. Yao, 2009, The Journal of Biological Chemistry.