Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 81

1.

Clinical and neurophysiological characteristics of heterozygous NPC1 carriers.

Benussi A, Cotelli MS, Cantoni V, Bertasi V, Turla M, Dardis A, Biasizzo J, Manenti R, Cotelli M, Padovani A, Borroni B.

JIMD Rep. 2019 Jun 28;49(1):80-88. doi: 10.1002/jmd2.12059. eCollection 2019 Sep.

2.

Molecular genetics of Pompe disease: a comprehensive overview.

Peruzzo P, Pavan E, Dardis A.

Ann Transl Med. 2019 Jul;7(13):278. doi: 10.21037/atm.2019.04.13. Review.

3.
4.

Screening for Niemann-Pick type C disease in neurodegenerative diseases.

Boenzi S, Dardis A, Russo P, Bellofatto M, Imbriglio T, Fico T, De Michele G, De Rosa A.

J Clin Neurosci. 2019 Oct;68:266-267. doi: 10.1016/j.jocn.2019.06.025. Epub 2019 Jun 17.

PMID:
31221578
5.

A genetic modifier of symptom onset in Pompe disease.

Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP.

EBioMedicine. 2019 May;43:553-561. doi: 10.1016/j.ebiom.2019.03.048. Epub 2019 Mar 25.

6.

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.

7.

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
8.

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.

9.

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. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12.

PMID:
29997386
10.

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.

11.

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.

12.

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.

13.

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.

14.

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
15.

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.

16.

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
17.

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
18.

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.

19.

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
20.

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
21.

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
22.

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.

23.

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
24.

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.

25.

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
26.

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.

27.

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
28.

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
29.

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
30.

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.

31.

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.

32.

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
33.

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.

34.

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.

35.

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.

36.

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
37.

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.

38.
39.

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
40.

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
41.

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.

42.

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
43.

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.

44.

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.

45.

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
46.

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.

47.

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.

48.

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.

49.

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
50.

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.

Supplemental Content

Loading ...
Support Center