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Items: 1 to 50 of 91

1.

Dietary lipids in glycogen storage disease type III: a systematic literature study, case studies and future recommendations.

Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ.

J Inherit Metab Dis. 2020 Feb 16. doi: 10.1002/jimd.12224. [Epub ahead of print]

PMID:
32064649
2.

Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report.

de Laurentis C, Gasperini S, Chiarello G, Motta S, Canonico F, Giussani CG.

Childs Nerv Syst. 2020 Jan 21. doi: 10.1007/s00381-020-04500-1. [Epub ahead of print]

PMID:
31965290
3.

The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series.

Cattoni A, Motta S, Masera N, Gasperini S, Rovelli A, Parini R.

Ital J Pediatr. 2019 Aug 1;45(1):93. doi: 10.1186/s13052-019-0691-1.

4.

Chronic liver involvement in urea cycle disorders.

Ranucci G, Rigoldi M, Cotugno G, Bernabei SM, Liguori A, Gasperini S, Goffredo BM, Martinelli D, Monti L, Francalanci P, Candusso M, Parini R, Dionisi-Vici C.

J Inherit Metab Dis. 2019 Nov;42(6):1118-1127. doi: 10.1002/jimd.12144. Epub 2019 Aug 25.

PMID:
31260111
5.

Liver Transplantation for Lysosomal Storage Disorders: A Novel Option to Pick.

Gasperini S, D'Antiga L.

Liver Transpl. 2019 Aug;25(8):1140-1141. doi: 10.1002/lt.25578. No abstract available.

PMID:
31165587
6.

Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.

Squeri G, Passerini L, Ferro F, Laudisa C, Tomasoni D, Deodato F, Donati MA, Gasperini S, Aiuti A, Bernardo ME, Gentner B, Naldini L, Annoni A, Biffi A, Gregori S.

Mol Ther. 2019 Jul 3;27(7):1215-1227. doi: 10.1016/j.ymthe.2019.04.014. Epub 2019 Apr 19.

7.

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.

Brambilla A, Bianchi ML, Cancello R, Galimberti C, Gasperini S, Pretese R, Rigoldi M, Tursi S, Parini R.

J Inherit Metab Dis. 2019 Nov;42(6):1105-1117. doi: 10.1002/jimd.12108. Epub 2019 Jul 9.

PMID:
31056765
8.

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.

Scelsa B, Gasperini S, Righini A, Iascone M, Brazzoduro VG, Veggiotti P.

Mol Genet Genomic Med. 2019 Jun;7(6):e657. doi: 10.1002/mgg3.657. Epub 2019 Mar 21.

9.

Human neutrophils activated via TLR8 promote Th17 polarization through IL-23.

Tamassia N, Arruda-Silva F, Wright HL, Moots RJ, Gardiman E, Bianchetto-Aguilera F, Gasperini S, Capone M, Maggi L, Annunziato F, Edwards SW, Cassatella MA.

J Leukoc Biol. 2019 Jun;105(6):1155-1165. doi: 10.1002/JLB.MA0818-308R. Epub 2019 Feb 28.

PMID:
30817049
10.

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.

Russo C, Ardissone A, Freri E, Gasperini S, Moscatelli M, Zorzi G, Panteghini C, Castellotti B, Garavaglia B, Nardocci N, Chiapparini L.

Mov Disord Clin Pract. 2018 Nov 9;6(1):51-56. doi: 10.1002/mdc3.12693. eCollection 2019 Jan.

11.

Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

Faverio P, Stainer A, De Giacomi F, Gasperini S, Motta S, Canonico F, Pieruzzi F, Monzani A, Pesci A, Biondi A.

Int J Mol Sci. 2019 Jan 15;20(2). pii: E327. doi: 10.3390/ijms20020327. Review.

12.

Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.

Indellicato R, Parini R, Domenighini R, Malagolini N, Iascone M, Gasperini S, Masera N, dall'Olio F, Trinchera M.

Glycobiology. 2019 Mar 1;29(3):229-241. doi: 10.1093/glycob/cwy112.

PMID:
30576498
13.

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.

Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D.

Mol Genet Metab. 2019 Feb;126(2):121-130. doi: 10.1016/j.ymgme.2018.10.006. Epub 2018 Oct 24.

14.

New treatments for the mucopolysaccharidoses: from pathophysiology to therapy.

Fecarotta S, Gasperini S, Parenti G.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):124. doi: 10.1186/s13052-018-0564-z. Review.

15.

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.

Furlan F, Rovelli A, Rigoldi M, Filocamo M, Tappino B, Friday D, Gasperini S, Mariani S, Izzi C, Bondioni MP, Gellera C, Venerando A, Villa N, Del Carmen Rodriguez Perez M, Pavan F, Biondi A, Parini R.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):128. doi: 10.1186/s13052-018-0566-x.

16.

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.

Barone R, Pellico A, Pittalà A, Gasperini S.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):121. doi: 10.1186/s13052-018-0561-2. Review.

17.

Mutant p53 blocks SESN1/AMPK/PGC-1α/UCP2 axis increasing mitochondrial O2-· production in cancer cells.

Cordani M, Butera G, Dando I, Torrens-Mas M, Butturini E, Pacchiana R, Oppici E, Cavallini C, Gasperini S, Tamassia N, Nadal-Serrano M, Coan M, Rossi D, Gaidano G, Caraglia M, Mariotto S, Spizzo R, Roca P, Oliver J, Scupoli MT, Donadelli M.

Br J Cancer. 2018 Oct;119(8):994-1008. doi: 10.1038/s41416-018-0288-2. Epub 2018 Oct 15.

18.

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

Caciotti A, Tonin R, Mort M, Cooper DN, Gasperini S, Rigoldi M, Parini R, Deodato F, Taurisano R, Sibilio M, Parenti G, Guerrini R, Morrone A.

BMC Med Genet. 2018 Oct 11;19(1):183. doi: 10.1186/s12881-018-0694-6.

19.

Cytokine production by human neutrophils: Revisiting the "dark side of the moon".

Tamassia N, Bianchetto-Aguilera F, Arruda-Silva F, Gardiman E, Gasperini S, Calzetti F, Cassatella MA.

Eur J Clin Invest. 2018 Nov;48 Suppl 2:e12952. doi: 10.1111/eci.12952. Epub 2018 May 30. Review.

PMID:
29772063
20.

A Reappraisal on the Potential Ability of Human Neutrophils to Express and Produce IL-17 Family Members In Vitro: Failure to Reproducibly Detect It.

Tamassia N, Arruda-Silva F, Calzetti F, Lonardi S, Gasperini S, Gardiman E, Bianchetto-Aguilera F, Gatta LB, Girolomoni G, Mantovani A, Vermi W, Cassatella MA.

Front Immunol. 2018 Apr 17;9:795. doi: 10.3389/fimmu.2018.00795. eCollection 2018.

21.

Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patients.

Scaravilli V, Zanella A, Ciceri V, Bosatra M, Flandoli C, La Bruna A, Sosio S, Parini R, Gasperini S, Pesenti A, Moretto A.

Paediatr Anaesth. 2018 May;28(5):436-442. doi: 10.1111/pan.13379. Epub 2018 Apr 23.

PMID:
29687523
22.

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B.

Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0.

23.

Human Neutrophils Produce CCL23 in Response to Various TLR-Agonists and TNFα.

Arruda-Silva F, Bianchetto-Aguilera F, Gasperini S, Polletti S, Cosentino E, Tamassia N, Cassatella MA.

Front Cell Infect Microbiol. 2017 May 12;7:176. doi: 10.3389/fcimb.2017.00176. eCollection 2017.

24.

Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Tabellini G, Vairo D, Scomodon O, Tamassia N, Ferraro RM, Patrizi O, Gasperini S, Soresina A, Giardino G, Pignata C, Lougaris V, Plebani A, Dotta L, Cassatella MA, Parolini S, Badolato R.

J Allergy Clin Immunol. 2017 Aug;140(2):553-564.e4. doi: 10.1016/j.jaci.2016.10.051. Epub 2017 Jan 6.

PMID:
28069426
25.

The importance of being "pure" neutrophils.

Calzetti F, Tamassia N, Arruda-Silva F, Gasperini S, Cassatella MA.

J Allergy Clin Immunol. 2017 Jan;139(1):352-355.e6. doi: 10.1016/j.jaci.2016.06.025. Epub 2016 Jul 25. No abstract available.

PMID:
27567327
26.

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M.

Am J Med Genet A. 2016 Nov;170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23.

PMID:
27549011
27.

Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.

Parini R, Rigoldi M, Tedesco L, Boffi L, Brambilla A, Bertoletti S, Boncimino A, Del Longo A, De Lorenzo P, Gaini R, Gallone D, Gasperini S, Giussani C, Grimaldi M, Grioni D, Meregalli P, Messinesi G, Nichelli F, Romagnoli M, Russo P, Sganzerla E, Valsecchi G, Biondi A.

Mol Genet Metab Rep. 2015 Apr 22;3:65-74. doi: 10.1016/j.ymgmr.2015.03.011. eCollection 2015 Jun.

28.

Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions.

Giacomelli M, Kumar R, Soresina A, Tamassia N, Lorenzini T, Moratto D, Gasperini S, Cassatella M, Plebani A, Lougaris V, Badolato R.

J Allergy Clin Immunol. 2016 Jul;138(1):229-240.e3. doi: 10.1016/j.jaci.2015.10.051. Epub 2016 Feb 11.

PMID:
26875746
29.

Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases.

Grioni D, Landi A, Gasperini S, Trezza A, Fiori L, Rigoldi M, Parini R, Sganzerla EP.

Child Neurol Open. 2015 Oct 25;2(4):2329048X15612432. doi: 10.1177/2329048X15612432. eCollection 2015 Oct-Dec.

30.

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Ferri L, Donati MA, Funghini S, Cavicchi C, Pensato V, Gellera C, Natacci F, Spaccini L, Gasperini S, Vaz FM, Cooper DN, Guerrini R, Morrone A.

Eur J Hum Genet. 2015 Dec;23(12):1708-12. doi: 10.1038/ejhg.2015.50. Epub 2015 Mar 18.

31.

Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.

Brambilla A, Mannarino S, Pretese R, Gasperini S, Galimberti C, Parini R.

JIMD Rep. 2014;17:91-5. doi: 10.1007/8904_2014_343. Epub 2014 Oct 12.

32.

High rate of disease remission in moderate rheumatoid arthritis on etanercept therapy: data from GISEA, the Italian biologics register.

Iannone F, Gremese E, Gallo G, Sarzi-Puttini P, Botsios C, Trotta F, Gasperini S, Galeazzi M, Adami S, Cantini F, Sebastiani M, Gorla R, Marchesoni A, Giardina A, Foti R, Mele A, Bruschi E, Bagnato G, Erre GL, Lapadula G; GISEA (Gruppo Italiano Studio Early Arthritis).

Clin Rheumatol. 2014 Jan;33(1):31-7. doi: 10.1007/s10067-013-2348-6. Epub 2013 Aug 18.

PMID:
23954923
33.

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Ferri L, Caciotti A, Cavicchi C, Rigoldi M, Parini R, Caserta M, Chibbaro G, Gasperini S, Procopio E, Donati MA, Guerrini R, Morrone A.

JIMD Rep. 2012;6:31-7. doi: 10.1007/8904_2012_125. Epub 2012 Feb 24.

34.

IL-10-induced microRNA-187 negatively regulates TNF-α, IL-6, and IL-12p40 production in TLR4-stimulated monocytes.

Rossato M, Curtale G, Tamassia N, Castellucci M, Mori L, Gasperini S, Mariotti B, De Luca M, Mirolo M, Cassatella MA, Locati M, Bazzoni F.

Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):E3101-10. doi: 10.1073/pnas.1209100109. Epub 2012 Oct 15.

35.

Can single use negative pressure wound therapy be an alternative method to manage keloid scarring? A preliminary report of a clinical and ultrasound/colour-power-doppler study.

Fraccalvieri M, Sarno A, Gasperini S, Zingarelli E, Fava R, Salomone M, Bruschi S.

Int Wound J. 2013 Jun;10(3):340-4. doi: 10.1111/j.1742-481X.2012.00988.x. Epub 2012 Jun 21.

PMID:
22716191
36.

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N.

Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685.

PMID:
22522443
37.

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

Funghini S, Thusberg J, Spada M, Gasperini S, Parini R, Ventura L, Meli C, De Cosmo L, Sibilio M, Mooney SD, Guerrini R, Donati MA, Morrone A.

Gene. 2012 Feb 10;493(2):228-34. doi: 10.1016/j.gene.2011.11.052. Epub 2011 Dec 7.

PMID:
22173106
38.

Two-phase olive mill waste composting: community dynamics and functional role of the resident microbiota.

Federici E, Pepi M, Esposito A, Scargetta S, Fidati L, Gasperini S, Cenci G, Altieri R.

Bioresour Technol. 2011 Dec;102(23):10965-72. doi: 10.1016/j.biortech.2011.09.062. Epub 2011 Sep 20.

PMID:
21996482
39.

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation.

Vairo D, Tassone L, Tabellini G, Tamassia N, Gasperini S, Bazzoni F, Plebani A, Porta F, Notarangelo LD, Parolini S, Giliani S, Badolato R.

Blood. 2011 Aug 18;118(7):1806-17. doi: 10.1182/blood-2011-01-330571. Epub 2011 Jul 19.

PMID:
21772053
40.

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

Mazzone E, Vasco G, Sormani MP, Torrente Y, Berardinelli A, Messina S, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Gasperini S, Previtali S, Napolitano S, Martinelli D, Bruno C, Vita G, Comi G, Bertini E, Mercuri E.

Neurology. 2011 Jul 19;77(3):250-6. doi: 10.1212/WNL.0b013e318225ab2e. Epub 2011 Jul 6.

PMID:
21734183
41.

Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.

Micheletti MV, Lavoratti G, Gasperini S, Donati MA, Pela I.

Clin Nephrol. 2011 Jul;76(1):68-73.

PMID:
21722608
42.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A.

Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.

43.

Arsenic precipitation by an anaerobic arsenic-respiring bacterial strain isolated from the polluted sediments of Orbetello Lagoon, Italy.

Focardi S, Pepi M, Ruta M, Marvasi M, Bernardini E, Gasperini S, Focardi SE.

Lett Appl Microbiol. 2010 Nov;51(5):578-85. doi: 10.1111/j.1472-765X.2010.02938.x. Epub 2010 Sep 23.

44.

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

Gasperini S, Stagi S, Gasperini U, Guerrini R, la Marca G, Donati MA.

Pediatr Nephrol. 2010 Nov;25(11):2373-4. doi: 10.1007/s00467-010-1557-3. Epub 2010 Jun 2. No abstract available.

PMID:
20517618
45.

Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency.

Stagi S, Gasperini S, Manoni C, Greco A, Funghini S, Donati A.

Horm Res Paediatr. 2010;73(5):409-13. doi: 10.1159/000308176. Epub 2010 Apr 14.

PMID:
20389114
46.

Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients.

Tamassia N, Castellucci M, Rossato M, Gasperini S, Bosisio D, Giacomelli M, Badolato R, Cassatella MA, Bazzoni F.

FASEB J. 2010 May;24(5):1365-75. doi: 10.1096/fj.09-145573. Epub 2009 Dec 23.

PMID:
20032313
47.

Two naphthalene degrading bacteria belonging to the genera Paenibacillus and Pseudomonas isolated from a highly polluted lagoon perform different sensitivities to the organic and heavy metal contaminants.

Pepi M, Lobianco A, Renzi M, Perra G, Bernardini E, Marvasi M, Gasperini S, Volterrani M, Franchi E, Heipieper HJ, Focardi SE.

Extremophiles. 2009 Sep;13(5):839-48. doi: 10.1007/s00792-009-0271-1. Epub 2009 Jul 21.

PMID:
19621207
48.

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Cavicchi C, Malvagia S, la Marca G, Gasperini S, Donati MA, Zammarchi E, Guerrini R, Morrone A, Pasquini E.

J Pharm Biomed Anal. 2009 Jul 12;49(5):1292-5. doi: 10.1016/j.jpba.2009.03.001. Epub 2009 Mar 20.

PMID:
19359120
49.

Diagnosis of glycogenosis type II.

Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A.

Neurology. 2008 Dec 2;71(23 Suppl 2):S4-11. doi: 10.1212/WNL.0b013e31818da91e. Review.

PMID:
19047572
50.

Management and treatment of glycogenosis type II.

Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A.

Neurology. 2008 Dec 2;71(23 Suppl 2):S12-36. doi: 10.1212/WNL.0b013e31818da93f. Review.

PMID:
19047571

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