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Items: 1 to 50 of 76

1.

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.

Fog CK, Zago P, Malini E, Solanko LM, Peruzzo P, Bornaes C, Magnoni R, Mehmedbasic A, Petersen NHT, Bembi B, Aerts JFMG, Dardis A, Kirkegaard T.

EBioMedicine. 2018 Dec;38:142-153. doi: 10.1016/j.ebiom.2018.11.037. Epub 2018 Nov 27.

2.

Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.

Dardis A, Pianta A, Zampieri S, Zanin I, Bertoli M, Cazzagon M, Bregant E, Damante G, Bembi B, Ciana G.

Clin Genet. 2019 Feb;95(2):336-338. doi: 10.1111/cge.13464. Epub 2018 Nov 18. No abstract available.

PMID:
30450550
3.

Histone acetylation as a new mechanism for bilirubin-induced encephalopathy in the Gunn rat.

Vianello E, Zampieri S, Marcuzzo T, Tordini F, Bottin C, Dardis A, Zanconati F, Tiribelli C, Gazzin S.

Sci Rep. 2018 Sep 12;8(1):13690. doi: 10.1038/s41598-018-32106-w.

4.

microRNAs as biomarkers in Pompe disease.

Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G.

Genet Med. 2018 Jul 12. doi: 10.1038/s41436-018-0103-8. [Epub ahead of print]

PMID:
29997386
5.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR).

Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Review.

6.

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

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

7.

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.

8.

Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.

Dardis A, Buratti E.

Genes (Basel). 2018 Feb 6;9(2). pii: E73. doi: 10.3390/genes9020073. Review.

9.

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, Bembi B, Cazzorla C, Rubert L, Zordan R, Desnick RJ, Burlina AP.

J Inherit Metab Dis. 2018 Mar;41(2):209-219. doi: 10.1007/s10545-017-0098-3. Epub 2017 Nov 15.

PMID:
29143201
10.

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Devigili G, De Filippo M, Ciana G, Dardis A, Lettieri C, Rinaldo S, Macor D, Moro A, Eleopra R, Bembi B.

Orphanet J Rare Dis. 2017 Aug 31;12(1):148. doi: 10.1186/s13023-017-0700-7.

11.

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.

Parnetti L, Paciotti S, Eusebi P, Dardis A, Zampieri S, Chiasserini D, Tasegian A, Tambasco N, Bembi B, Calabresi P, Beccari T.

Mov Disord. 2017 Oct;32(10):1423-1431. doi: 10.1002/mds.27136. Epub 2017 Aug 26.

PMID:
28843015
12.

GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.

Zampieri S, Cattarossi S, Bembi B, Dardis A.

J Mol Diagn. 2017 Sep;19(5):733-741. doi: 10.1016/j.jmoldx.2017.05.005. Epub 2017 Jul 18.

PMID:
28727984
13.

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.

Goina E, Peruzzo P, Bembi B, Dardis A, Buratti E.

Mol Ther. 2017 Sep 6;25(9):2117-2128. doi: 10.1016/j.ymthe.2017.05.019. Epub 2017 Jun 16.

14.

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.

Lualdi S, Del Zotto G, Zegarra-Moran O, Pedemonte N, Corsolini F, Bruschi M, Tomati V, Amico G, Candiano G, Dardis A, Cooper DN, Filocamo M.

Hum Mutat. 2017 Jul;38(7):849-862. doi: 10.1002/humu.23243. Epub 2017 May 22.

PMID:
28477385
15.

Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease.

Sechi A, Salvadego D, Da Ponte A, Bertin N, Dardis A, Cattarossi S, Devigili G, Reccardini F, Bembi B, Grassi B.

Neuromuscul Disord. 2017 Jun;27(6):542-549. doi: 10.1016/j.nmd.2017.03.002. Epub 2017 Mar 10.

PMID:
28433478
16.

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.

Canterini S, Dragotto J, Dardis A, Zampieri S, De Stefano ME, Mangia F, Erickson RP, Fiorenza MT.

Hum Mol Genet. 2017 Jun 15;26(12):2277-2289. doi: 10.1093/hmg/ddx118.

PMID:
28379564
17.

Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.

Benussi A, Cotelli MS, Cosseddu M, Bertasi V, Turla M, Salsano E, Dardis A, Padovani A, Borroni B.

JIMD Rep. 2017;36:19-27. doi: 10.1007/8904_2016_33. Epub 2017 Jan 17.

18.

Role of Niemann-Pick Type C Disease Mutations in Dementia.

Cupidi C, Frangipane F, Gallo M, Clodomiro A, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SA, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Zampieri S, Romanello M, Dardis A, Maletta RG, Bruni AC.

J Alzheimers Dis. 2017;55(3):1249-1259.

PMID:
27792009
19.

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.

Dardis A, Zampieri S, Canterini S, Newell KL, Stuani C, Murrell JR, Ghetti B, Fiorenza MT, Bembi B, Buratti E.

Acta Neuropathol Commun. 2016 May 18;4(1):52. doi: 10.1186/s40478-016-0325-4.

20.

A neonate with abdominal distension and failure to thrive.

Tadiotto E, Maines E, Degani D, Banzato C, Balter R, Gugelmo G, Dardis A, Giordano G, Bordugo A.

Arch Dis Child Educ Pract Ed. 2017 Jun;102(3):166. doi: 10.1136/archdischild-2015-310124. Epub 2016 Apr 26. No abstract available.

PMID:
27117974
21.

Profile of eliglustat tartrate in the management of Gaucher disease.

Sechi A, Dardis A, Bembi B.

Ther Clin Risk Manag. 2016 Jan 11;12:53-8. doi: 10.2147/TCRM.S73226. eCollection 2016. Review. Erratum in: Ther Clin Risk Manag. 2016;12:1083.

22.

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.

Romanello M, Zampieri S, Bortolotti N, Deroma L, Sechi A, Fiumara A, Parini R, Borroni B, Brancati F, Bruni A, Russo CV, Bordugo A, Bembi B, Dardis A.

Clin Chim Acta. 2016 Apr 1;455:39-45. doi: 10.1016/j.cca.2016.01.003. Epub 2016 Jan 11.

PMID:
26790753
23.

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Zampieri S, Filocamo M, Pianta A, Lualdi S, Gort L, Coll MJ, Sinnott R, Geberhiwot T, Bembi B, Dardis A.

Hum Mutat. 2016 Feb;37(2):139-47. doi: 10.1002/humu.22923. Epub 2015 Dec 1. Review.

PMID:
26499107
24.

Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.

Malini E, Zampieri S, Deganuto M, Romanello M, Sechi A, Bembi B, Dardis A.

FASEB J. 2015 Sep;29(9):3839-52. doi: 10.1096/fj.15-271148. Epub 2015 May 27.

PMID:
26018676
25.

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G.

Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y.

26.

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T.

JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13.

27.

Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.

Benussi A, Alberici A, Premi E, Bertasi V, Cotelli MS, Turla M, Dardis A, Zampieri S, Marchina E, Paghera B, Gallivanone F, Castiglioni I, Padovani A, Borroni B.

J Neurol. 2015 Mar;262(3):642-7. doi: 10.1007/s00415-014-7619-x. Epub 2014 Dec 24.

PMID:
25536905
28.

Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.

Zampieri S, Bianchi E, Cantile C, Saleri R, Bembi B, Dardis A.

PLoS One. 2014 Nov 14;9(11):e112503. doi: 10.1371/journal.pone.0112503. eCollection 2014.

29.

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.

Sechi A, Dardis A, Zampieri S, Rabacchi C, Zanoni P, Calandra S, De Maglio G, Pizzolitto S, Maruotti V, Di Muzio A, Platt F, Bembi B.

Orphanet J Rare Dis. 2014 Sep 18;9:143. doi: 10.1186/s13023-014-0143-3.

30.

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Platt FM, Wassif C, Colaco A, Dardis A, Lloyd-Evans E, Bembi B, Porter FD.

Annu Rev Genomics Hum Genet. 2014;15:173-94. doi: 10.1146/annurev-genom-091212-153412.

31.

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

Sechi A, Deroma L, Dardis A, Ciana G, Bertin N, Concolino D, Linari S, Perria C, Bembi B.

Mol Genet Metab. 2014 Nov;113(3):213-8. doi: 10.1016/j.ymgme.2014.07.022. Epub 2014 Aug 4.

PMID:
25127542
32.

Genotype-phenotype correlation in Pompe disease, a step forward.

De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C.

Orphanet J Rare Dis. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z.

33.
34.

Cholesterol metabolism-associated molecules in late onset Alzheimer's disease.

Fiorenza MT, Dardis A, Canterini S, Erickson RP.

J Biol Regul Homeost Agents. 2013 Apr-Jun;27(2 Suppl):23-35.

PMID:
24813313
35.

Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?

Manganelli F, Dubbioso R, Iodice R, Topa A, Dardis A, Russo CV, Ruggiero L, Tozza S, Filla A, Santoro L.

J Neurol. 2014 Apr;261(4):804-8. doi: 10.1007/s00415-014-7282-2. Epub 2014 Feb 26.

PMID:
24570279
36.

Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease.

Parnetti L, Chiasserini D, Persichetti E, Eusebi P, Varghese S, Qureshi MM, Dardis A, Deganuto M, De Carlo C, Castrioto A, Balducci C, Paciotti S, Tambasco N, Bembi B, Bonanni L, Onofrj M, Rossi A, Beccari T, El-Agnaf O, Calabresi P.

Mov Disord. 2014 Jul;29(8):1019-27. doi: 10.1002/mds.25772. Epub 2014 Jan 16.

37.

Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.

Deroma L, Guerra M, Sechi A, Ciana G, Cisilino G, Dardis A, Bembi B.

Eur J Pediatr. 2014 Jun;173(6):805-13. doi: 10.1007/s00431-013-2258-2. Epub 2014 Jan 7.

PMID:
24395639
38.

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

Dardis A, Zanin I, Zampieri S, Stuani C, Pianta A, Romanello M, Baralle FE, Bembi B, Buratti E.

Nucleic Acids Res. 2014 Jan;42(2):1291-302. doi: 10.1093/nar/gkt987. Epub 2013 Oct 22.

39.

Functional analysis of 11 novel GBA alleles.

Malini E, Grossi S, Deganuto M, Rosano C, Parini R, Dominisini S, Cariati R, Zampieri S, Bembi B, Filocamo M, Dardis A.

Eur J Hum Genet. 2014 Apr;22(4):511-6. doi: 10.1038/ejhg.2013.182. Epub 2013 Sep 11.

40.

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

Ginocchio VM, D'Amico A, Bertini E, Ceravolo F, Dardis A, Verrigni D, Bembi B, Dionisi-Vici C, Deodato F.

Mol Genet Metab. 2013 Nov;110(3):329-35. doi: 10.1016/j.ymgme.2013.07.019. Epub 2013 Aug 7.

PMID:
23973268
41.

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.

Bergamin N, Dardis A, Beltrami A, Cesselli D, Rigo S, Zampieri S, Domenis R, Bembi B, Beltrami CA.

Orphanet J Rare Dis. 2013 Feb 21;8:34. doi: 10.1186/1750-1172-8-34.

42.

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

Zampieri S, Bembi B, Rosso N, Filocamo M, Dardis A.

JIMD Rep. 2012;2:59-69. doi: 10.1007/8904_2011_49. Epub 2011 Sep 6.

43.

Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients.

Deroma L, Sechi A, Dardis A, Macor D, Liva G, Ciana G, Bembi B.

JIMD Rep. 2013;7:117-22. doi: 10.1007/8904_2012_158. Epub 2012 Jul 1.

44.

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S.

Mol Genet Metab. 2012 Nov;107(3):534-41. doi: 10.1016/j.ymgme.2012.08.005. Epub 2012 Aug 18.

PMID:
22959828
45.

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A.

PLoS One. 2012;7(7):e41516. doi: 10.1371/journal.pone.0041516. Epub 2012 Jul 27.

46.

First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.

Paciotti S, Persichetti E, Pagliardini S, Deganuto M, Rosano C, Balducci C, Codini M, Filocamo M, Menghini AR, Pagliardini V, Pasqui S, Bembi B, Dardis A, Beccari T.

Clin Chim Acta. 2012 Nov 20;413(23-24):1827-31. doi: 10.1016/j.cca.2012.07.011. Epub 2012 Jul 20.

PMID:
22820396
47.

Early miglustat therapy in infantile Niemann-Pick disease type C.

Di Rocco M, Dardis A, Madeo A, Barone R, Fiumara A.

Pediatr Neurol. 2012 Jul;47(1):40-3. doi: 10.1016/j.pediatrneurol.2012.04.005.

PMID:
22704015
48.

Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.

Ciana G, Deroma L, Franzil AM, Dardis A, Bembi B.

J Inherit Metab Dis. 2012 Nov;35(6):1101-6. doi: 10.1007/s10545-012-9476-z. Epub 2012 Mar 23.

PMID:
22441841
49.

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

Zampieri S, Montalvo A, Blanco M, Zanin I, Amartino H, Vlahovicek K, Szlago M, Schenone A, Pittis G, Bembi B, Dardis A.

Gene. 2012 May 15;499(2):262-5. doi: 10.1016/j.gene.2012.03.022. Epub 2012 Mar 13.

PMID:
22441121
50.

Endosperm-specific expression of human acid beta-glucosidase in a waxy rice.

Patti T, Bembi B, Cristin P, Mazzarol F, Secco E, Pappalardo C, Musetti R, Martinuzzi M, Versolatto S, Cariati R, Dardis A, Marchetti S.

Rice (N Y). 2012 Dec 6;5(1):34. doi: 10.1186/1939-8433-5-34.

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