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Items: 1 to 20 of 49

1.

Literary evidence for taro in the ancient Mediterranean: A chronology of names and uses in a multilingual world.

Grimaldi IM, Muthukumaran S, Tozzi G, Nastasi A, Boivin N, Matthews PJ, van Andel T.

PLoS One. 2018 Jun 5;13(6):e0198333. doi: 10.1371/journal.pone.0198333. eCollection 2018.

2.

Spleen dimensions are inversely associated with lysosomal acid lipase activity in patients with non-alcoholic fatty liver disease.

Polimeni L, Pastori D, Baratta F, Tozzi G, Novo M, Vicinanza R, Troisi G, Pannitteri G, Ceci F, Scardella L, Violi F, Angelico F, Del Ben M.

Intern Emerg Med. 2017 Dec;12(8):1159-1165. doi: 10.1007/s11739-017-1746-1. Epub 2017 Sep 12.

PMID:
28900817
3.

Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.

Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L, Crock P, Vora K, Nightingale S, Michelakakis H, Garoufi A, Lykopoulou L, Bertolini S, Calandra S.

Atherosclerosis. 2017 Oct;265:124-132. doi: 10.1016/j.atherosclerosis.2017.08.021. Epub 2017 Aug 26.

PMID:
28881270
4.

A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease.

Tovoli F, Napoli L, Negrini G, D'Addato S, Tozzi G, D'Amico J, Piscaglia F, Bolondi L.

Int J Mol Sci. 2017 May 25;18(6). pii: E1134. doi: 10.3390/ijms18061134.

5.

Severe reduction of blood lysosomal acid lipase activity in cryptogenic cirrhosis: A nationwide multicentre cohort study.

Angelico F, Corradini SG, Pastori D, Fargion S, Fracanzani AL, Angelico M, Bolondi L, Tozzi G, Pujatti PL, Labbadia G, Corazza GR, Averna M, Perticone F, Croce G, Persico M, Bucci T, Baratta F, Polimeni L, Del Ben M, Violi F; LAL-Cirrhosis Collaborative Research Group.

Atherosclerosis. 2017 Jul;262:179-184. doi: 10.1016/j.atherosclerosis.2017.03.038. Epub 2017 Mar 31.

PMID:
28396038
6.

Platelet count may impact on lysosomal acid lipase activity determination in dried blood spot.

Vespasiani-Gentilucci U, D'Amico J, De Vincentis A, Tozzi G, Vorini F, Gallo P, Carotti S, Valentini F, Galati G, dell'Unto C, Piemonte F, Picardi A.

Clin Biochem. 2017 Aug;50(12):726-728. doi: 10.1016/j.clinbiochem.2017.02.013. Epub 2017 Feb 24.

PMID:
28238812
7.

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Travaglini L, Aiello C, Alesi V, Loddo S, Novelli A, Tozzi G, Bertini E, Leuzzi V, Brancati F.

Brain Dev. 2017 Feb;39(2):182-183. doi: 10.1016/j.braindev.2016.08.010. Epub 2016 Sep 14. No abstract available.

PMID:
27639779
8.

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.

Piermarini E, Cartelli D, Pastore A, Tozzi G, Compagnucci C, Giorda E, D'Amico J, Petrini S, Bertini E, Cappelletti G, Piemonte F.

Hum Mol Genet. 2016 Oct 1;25(19):4288-4301. doi: 10.1093/hmg/ddw260. Epub 2016 Aug 11.

PMID:
27516386
9.

Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology.

Vespasiani-Gentilucci U, Gallo P, Piemonte F, Riva E, Porcari A, Vorini F, Tozzi G, Piccioni L, Galati G, De Vincentis A, Carotti S, Morini S, D'Amico J, Angeletti S, Pedone C, Picardi A.

PLoS One. 2016 May 24;11(5):e0156113. doi: 10.1371/journal.pone.0156113. eCollection 2016.

10.

Reduced lysosomal acid lipase activity - A potential role in the pathogenesis of non alcoholic fatty liver disease in pediatric patients.

Selvakumar PK, Kabbany MN, Lopez R, Tozzi G, Alisi A, Alkhouri N, Nobili V.

Dig Liver Dis. 2016 Aug;48(8):909-13. doi: 10.1016/j.dld.2016.04.014. Epub 2016 Apr 29.

PMID:
27198736
11.

Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells.

Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, Emma F.

Kidney Int. 2016 Apr;89(4):862-73. doi: 10.1016/j.kint.2015.12.045.

PMID:
26994576
12.

Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

Baratta F, Pastori D, Polimeni L, Tozzi G, Violi F, Angelico F, Del Ben M.

Int J Mol Sci. 2015 Nov 25;16(12):28014-21. doi: 10.3390/ijms161226085. Review.

13.

Reduced Lysosomal Acid Lipase Activity in Adult Patients With Non-alcoholic Fatty Liver Disease.

Baratta F, Pastori D, Del Ben M, Polimeni L, Labbadia G, Di Santo S, Piemonte F, Tozzi G, Violi F, Angelico F.

EBioMedicine. 2015 May 22;2(7):750-4. doi: 10.1016/j.ebiom.2015.05.018. eCollection 2015 Jul.

14.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E.

Eur J Hum Genet. 2016 Mar;24(3):463-6. doi: 10.1038/ejhg.2015.141. Epub 2015 Jul 15.

15.

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis.

Carletti B, Piermarini E, Tozzi G, Travaglini L, Torraco A, Pastore A, Sparaco M, Petrillo S, Carrozzo R, Bertini E, Piemonte F.

Int J Mol Sci. 2014 Apr 4;15(4):5789-806. doi: 10.3390/ijms15045789.

16.

Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial.

Torraco A, Carrozzo R, Piemonte F, Pastore A, Tozzi G, Verrigni D, Assenza M, Orecchioni A, D'Egidio A, Marraffa E, Landoni G, Bertini E, Morelli A.

Biochimie. 2014 Jul;102:166-73. doi: 10.1016/j.biochi.2014.03.006. Epub 2014 Mar 19.

PMID:
24657218
17.

Glutathione imbalance in patients with X-linked adrenoleukodystrophy.

Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E.

Mol Genet Metab. 2013 Aug;109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22.

18.

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies.

Pastore A, Petrillo S, Tozzi G, Carrozzo R, Martinelli D, Dionisi-Vici C, Di Giovamberardino G, Ceravolo F, Klein MB, Miller G, Enns GM, Bertini E, Piemonte F.

Mol Genet Metab. 2013 Jun;109(2):208-14. doi: 10.1016/j.ymgme.2013.03.011. Epub 2013 Mar 24.

PMID:
23583222
19.

Glutathione metabolism in cobalamin deficiency type C (cblC).

Pastore A, Martinelli D, Piemonte F, Tozzi G, Boenzi S, Di Giovamberardino G, Petrillo S, Bertini E, Dionisi-Vici C.

J Inherit Metab Dis. 2014 Jan;37(1):125-9. doi: 10.1007/s10545-013-9605-3. Epub 2013 Apr 9.

PMID:
23568438
20.

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.

Ciccolella M, Corti S, Catteruccia M, Petrini S, Tozzi G, Rizza T, Carrozzo R, Nizzardo M, Bordoni A, Ronchi D, D'Amico A, Rizzo C, Comi GP, Bertini E.

J Med Genet. 2013 Feb;50(2):104-7. doi: 10.1136/jmedgenet-2012-101204. Epub 2012 Dec 14.

PMID:
23243084

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