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Items: 1 to 50 of 141

1.

Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia.

Valent F, Deroma L, Moro A, Ciana G, Martina P, De Martin F, Michelesio E, Da Riol MR, Macor D, Bembi B; Rare Disease Network of the Friuli Venezia Giulia Region.

Value Health. 2019 Sep;22(9):1003-1011. doi: 10.1016/j.jval.2019.04.1917. Epub 2019 May 24.

PMID:
31511176
2.

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.

3.

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.

4.

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
5.

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.

Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A.

Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Erratum in: Intern Med J. 2019 Aug;49(8):1059.

PMID:
30414226
6.

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
7.

Diagnosis and treatment of the cardiovascular consequences of Fabry disease.

Baig S, Vijapurapu R, Alharbi F, Nordin S, Kozor R, Moon J, Bembi B, Geberhiwot T, Steeds RP.

QJM. 2019 Jan 1;112(1):3-9. doi: 10.1093/qjmed/hcy120. Review.

PMID:
29878206
8.

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.

9.

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.

10.

Facing up to limits: a lesson from the Charlie Gard case.

Giannini A, Cogo P, Bembi B, Biban P, Bonanomi E, Codazzi D, Concolino D, Giugni C, Messeri A, Parini R, Pettenazzo A, Viafora C, Zaggia C, Langer M.

Minerva Anestesiol. 2018 Feb;84(2):261-262. doi: 10.23736/S0375-9393.17.12554-X. Epub 2017 Dec 13. No abstract available.

11.

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
12.

Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].

Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF.

Mol Genet Metab. 2018 Dec;125(4):360. doi: 10.1016/j.ymgme.2017.09.005. Epub 2017 Nov 10. No abstract available.

PMID:
29129654
13.

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).

Zimran A, Belmatoug N, Bembi B, Deegan P, Elstein D, Fernandez-Sasso D, Giraldo P, Goker-Alpan O, Lau H, Lukina E, Panahloo Z, Schwartz IVD; GOS Study group.

Am J Hematol. 2018 Feb;93(2):205-212. doi: 10.1002/ajh.24957. Epub 2017 Dec 12.

14.

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.

15.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Mehta A, Belmatoug N, Bembi B, Deegan P, Elstein D, Göker-Alpan Ö, Lukina E, Mengel E, Nakamura K, Pastores GM, Pérez-López J, Schwartz I, Serratrice C, Szer J, Zimran A, Di Rocco M, Panahloo Z, Kuter DJ, Hughes D.

Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4.

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.

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
20.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF.

Mol Genet Metab. 2016 Jul;118(3):206-13. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11. Review. Erratum in: Mol Genet Metab. 2018 Dec;125(4):360.

21.

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.

22.

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.

23.

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R.

Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5.

24.

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
25.

Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease.

Jevnikar M, Kodric M, Cantarutti F, Cifaldi R, Longo C, Della Porta R, Bembi B, Confalonieri M.

Mol Genet Metab Rep. 2015 Oct 29;5:67-71. doi: 10.1016/j.ymgmr.2015.09.007. eCollection 2015 Dec.

26.

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
27.

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
28.

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.

29.

Enzyme replacement and substrate reduction therapy for Gaucher disease.

Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, Cox TM.

Cochrane Database Syst Rev. 2015 Mar 27;(3):CD010324. doi: 10.1002/14651858.CD010324.pub2. Review.

PMID:
25812601
30.

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.

31.

Results from a 9-year Intensive Safety Surveillance Scheme (IS(3) ) in miglustat (Zavesca(®) )-treated patients.

Brand M, Muller A, Alsop J, van Schaik IN, Bembi B, Hughes D.

Pharmacoepidemiol Drug Saf. 2015 Mar;24(3):329-33. doi: 10.1002/pds.3760. Epub 2015 Feb 5.

PMID:
25656910
32.

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry.

Angelini C, Bembi B, Burlina A, Filosto M, Maioli MA, Morandi LO, Parini R, Pegoraro E, Ravaglia S, Servidei S, Toscano A, Tugnoli V.

J Neuromuscul Dis. 2015;2(s1):S36-S37. No abstract available.

PMID:
27858631
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.

Gaucher disease and bone manifestations.

Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, Cooper C, Brandi ML.

Calcif Tissue Int. 2014 Dec;95(6):477-94. doi: 10.1007/s00223-014-9923-y. Epub 2014 Nov 7. Review.

PMID:
25377906
35.

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.

36.

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.

37.

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
38.

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.

39.
40.

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.

41.

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
42.

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.

43.

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.

44.

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
45.

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.

46.

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.

47.

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.

48.

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
49.

Minimal disease activity in Gaucher disease: criteria for definition.

Di Rocco M, Andria G, Bembi B, Carubbi F, Giona F, Giuffrida G, Linari S, Sibilio M, Spina V, Cappellini MD.

Mol Genet Metab. 2012 Nov;107(3):521-5. doi: 10.1016/j.ymgme.2012.08.009. Epub 2012 Aug 17.

PMID:
22954583
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.

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