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Campagne de collecte 15 septembre 2024 – 1 octobre 2024

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1

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

Zampieri, Stefania, Filocamo, Mirella, Pianta, Annalisa, Lualdi, Susanna, Gort, Laura, Coll, Maria Jose, Sinnott, Richard, Geberhiwot, Tarekegn, Bembi, Bruno, Dardis, Andrea

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 516 KB

english, 2016

2

Synthetic and kinetic studies on copper(II), nickel(II) and cobalt(III) complexes of 1,4,7,11,14-penta-azacycloheptadecane([17]aneN5)

Robert W. Hay, Ramesh Bembi, Fiona McLaren, W.Thomas Moodie

Journal:

Inorganica Chimica Acta

Année:

1984

Langue:

english

Fichier:

PDF, 791 KB

english, 1984

3

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

Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Mar

Journal:

Orphanet Journal of Rare Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 450 KB

english, 2016

4

The International Niemann-Pick Disease Registry (INPDR) - A new model of patient-empowered data ownership and management

Imrie, Jackie, Pineda, Merce, Coll, Maria Jose, Hiwot, Tarek, Jones, Simon, Bembi, Bruno, Hrbicek, Martin, Mengel, Eugen, Crushell, Ellen, Patterson, Marc, Green, Jim

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 52 KB

english, 2018

5

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II

Maria Gabriela Pittis, Anna Lisa E. Montalvo, Snjezana Miocic, Cristina Martini, Marta Deganuto, Manila Candusso, Giovanni Ciana, Bruno Bembi

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 107 KB

english, 2003

6

Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles

Anna Lisa E. Montalvo, Mirella Filocamo, Kristian Vlahoviček, Andrea Dardis, Susanna Lualdi, Fabio Corsolini, Bruno Bembi, Maria Gabriela Pittis

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 890 KB

english, 2005

7

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

C. Patrono, C. Dionisi-Vici, A. Giannotti, B. Bembi, M.C. Digilio, C. Rizzo, C. Purificato, C. Martini, R. Pierini, F.M. Santorelli

Journal:

Molecular and Cellular Probes

Année:

2002

Langue:

english

Fichier:

PDF, 120 KB

english, 2002

8

Gaucher Disease and Bone Manifestations

Marcucci, Gemma, Zimran, Ari, Bembi, Bruno, Kanis, John, Reginster, Jean-Yves, Rizzoli, Renè, Cooper, Cyrus, Brandi, Maria Luisa

Journal:

Calcified Tissue International

Année:

2014

Langue:

english

Fichier:

PDF, 559 KB

english, 2014

9

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

Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardiss

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2015

10

Bone complications in children with Gaucher disease

Bembi, B, Ciana, G, Mengel, E, Terk, M R, Martini, C, Wenstrup, R J

Journal:

British Journal of Radiology

Année:

2002

Langue:

english

Fichier:

PDF, 100 KB

english, 2002

11

Polyazamacrocycles. V. Structure of Isomeric 3,5,7,7,10,12,14,14-Octamethyl-1,4,8,11-tetraazacyclotetradecanes

Bembi, Ramesh, M. Sondhi, Sham, K. Singh, Ashok, K. Jhanji, Amrit, G. Roy, Tapashi, Lown, J. William, Ball, R. G.

Journal:

Bulletin of the Chemical Society of Japan

Année:

1989

Fichier:

PDF, 761 KB

1989

12

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

Burlina, Alberto B., Polo, Giulia, Salviati, Leonardo, Duro, Giovanni, Zizzo, Carmela, Dardis, Andrea, Bembi, Bruno, Cazzorla, Chiara, Rubert, Laura, Zordan, Roberta, Desnick, Robert J., Burlina, Ales

Journal:

Journal of Inherited Metabolic Disease

Année:

2017

Langue:

english

Fichier:

PDF, 767 KB

english, 2017

13

Analysis of Intellectual Capital Diclosure Practises: Empirical Study on Services Companies Listed on Indonesia Stock Exchange

Soebyakto, Bambang Bemby, Agustina, Mira, Mukhtaruddin,

Journal:

GSTF Journal on Business Review (GBR)

Année:

2014

Langue:

english

Fichier:

PDF, 3.71 MB

english, 2014

14

Pilot Experience with a Novel Bluetooth Tablet-Based Technology for Home Monitoring and Education After Lung Transplantation

Schenkel, F.A., Ganesh, S., O'Conner, J., Sadeghi, R., Bembi, M., Duong, M., Barr, M.L., Hackmann, A.E.

Journal:

The Journal of Heart and Lung Transplantation

Année:

2018

Langue:

english

Fichier:

PDF, 48 KB

english, 2018

15

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Devigili, Grazia, De Filippo, Michele, Ciana, Giovanni, Dardis, Andrea, Lettieri, Christian, Rinaldo, Sara, Macor, Daniela, Moro, Alessandro, Eleopra, Roberto, Bembi, Bruno

Journal:

Orphanet Journal of Rare Diseases

Année:

2017

Langue:

english

Fichier:

PDF, 836 KB

english, 2017

16

Clinical disease progression and biomarkers in NiemannâPick disease type C: a prospective cohort study

Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, GrÃ¸nborg, Sabine, HÃ©ron, BÃ©nÃ©dicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat,

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 1.12 MB

2020

17

Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells

Dr. Bruno Bembi, Marina Comelli, Bruna Scaggiante, Alberto Pineschi, Silvana Rapelli, Rosalba Gornati, Gigliola Montorfano, Bruno Berra, Eriberto Agosti, Domenico Romeo

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 700 KB

english, 1992

18

Infantile sialic acid storage disease: Biochemical studies

Prof. B. Berra, R. Gornati, S. Rapelli, R. Gatti, G. M. S. Mancini, G. Ciana, B. Bembi

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 864 KB

english, 1995

19

ChemInform Abstract: Neighboring Carboxyl Group Participation in the Hydrolysis of Acetals. Hydrolysis of o-Carboxybenzaldehyde cis- and trans-1,2-Cyclohexanediyl Acetals.

T. H. FIFE, R. BEMBI, R. NATARAJAN

Journal:

Année:

1997

Fichier:

PDF, 26 KB

1997

20

ChemInform Abstract: Steric Effects in the Hydrolysis Reactions of N-Acylimidazoles. Effect of Aryl Substitution in the Leaving Group.

J. P. LEE, R. BEMBI, T. H. FIFE

Journal:

Année:

1997

Fichier:

PDF, 29 KB

1997

21

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

A.L.E. Montalvo, B. Bembi, M. Donnarumma, M. Filocamo, G. Parenti, M. Rossi, L. Merlini, E. Buratti, P. De Filippi, A. Dardis, M. Stroppiano, G. Ciana, M.G. Pittis

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 255 KB

english, 2006

22

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

MG Pittis, M Donnarumma, ALE Montalvo, S Dominissini, M Kroos, C Rosano, M Stroppiano, MG Bianco, MA Donati, G Parenti, A D'Amico, G Ciana, M Di Rocco, A Reuser, B Bembi, M Filocamo

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 216 KB

english, 2008

23

Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome

Susanna Lualdi, Barbara Tappino, Marco Di Duca, Andrea Dardis, Christopher J. Anderson, Roberto Biassoni, Peter W. Thompson, Fabio Corsolini, Maja Di Rocco, Bruno Bembi, Stefano Regis, David N. Cooper

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 600 KB

english, 2010

24

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, David N. Cooper, Mirella F

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 790 KB

english, 2010

25

Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon

M.G. Pittis, V. Ricci, V. I. Guerci, C. Marçais, G. Ciana, A. Dardis, F. Gerin, M. Stroppiano, M.T. Vanier, M. Filocamo, B. Bembi

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 44 KB

english, 2004

26

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

Snježana Miočić, Mirella Filocamo, Silvia Dominissini, Anna Lisa E. Montalvo, Kristian Vlahoviček, Marta Deganuto, Raffaella Mazzotti, Roberta Cariati, Bruno Bembi, Maria Gabriela Pittis

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 834 KB

english, 2005

27

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis

Michele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, Chiara Balducci, Pirkko Heikinheimo, Roberta Ricci, Daniela Antuzzi, Rossella Parini, Luigina Spaccini, Bruno Bembi, Tommaso Beccari

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 109 KB

english, 2005

28

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease

Andrea Dardis, Stefania Zampieri, Mirella Filocamo, Alberto Burlina, Bruno Bembi, Maria Gabriela Pittis

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 127 KB

english, 2005

29

Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays

Silvia Dominissini, Emanuele Buratti, Bruno Bembi, Marco Baralle, Maria Gabriela Pittis

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 197 KB

english, 2006

30

Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress

Marta Deganuto, Maria Gabriela Pittis, Alex Pines, Silvia Dominissini, Mark R. Kelley, Rodolfo Garcia, Franco Quadrifoglio, Bruno Bembi, Gianluca Tell

Journal:

Journal of Cellular Physiology

Année:

2007

Langue:

english

Fichier:

PDF, 468 KB

english, 2007

31

Metal complexes of cyclic diamines, dissociation kinetics of bis(1,5-diazacyclo-octane)nickel(II) in acidic and basic solution, and electrochemical studies

Robert W. Hay, Mahesh P. Pujari, Ramesh Bembi

Journal:

Inorganica Chimica Acta

Année:

1984

Langue:

english

Fichier:

PDF, 318 KB

english, 1984

32

The preparations of some μ-peroxo binuclear cobalt(III) complexes of macrocyclic tetra-aza-ligands and studies of the oxygenation and deoxygenation reactions

Robert W. Hay, Ramesh Bembi

Journal:

Inorganica Chimica Acta

Année:

1984

Langue:

english

Fichier:

PDF, 512 KB

english, 1984

33

Copper(II), copper(III) and nickel(II) complexes of the macrocyclic diamide ligands 1,4,7,10-tetra-azacyclododecane-2,3-dione, 1,4,7,11-tetra-azacyclotridecane-2,3-dione, 1,4,8,11-tetra-azacyclotetradecane-2,3-dione and electrochemical studies on the copper and nickel complexes of 1,4,8,11-tetra-azacyclotetradecane-5,7-dione

Robert W Hay, Ramesh Bembi, Walter Sommerville

Journal:

Inorganica Chimica Acta

Année:

1982

Langue:

english

Fichier:

PDF, 659 KB

english, 1982

34

The Kinetics of the acid-catalysed dissociation of the macrocyclic complexes [Ni(trans-Me6[18]dieneN4)]2+ [Cu(trans-Me6[18]dieneN4]2+ and [Cu(cis-Me6[18]dieneN4)]2+ and the kinetics of the base-catalysed dissociation of the copper(II) complexes

Robert W. Hay, Ramesh Bembi

Journal:

Inorganica Chimica Acta

Année:

1982

Langue:

english

Fichier:

PDF, 835 KB

english, 1982

35

Preparation and characterisation of some new 12- and 14-membered dibenzotetraaza macrocyclic complexes of iron(III)

Wahid U. Malik, Ramesh Bembi, Randhir Singh, Satya P. Taneja, Deo Raj

Journal:

Inorganica Chimica Acta

Année:

1983

Langue:

english

Fichier:

PDF, 524 KB

english, 1983

36

A tetra-aza macrocycle derived from (+)-Pulegone. Synthesis and characterization of copper(II) and cobalt(III) complexes

Robert W. Hay, Ramesh Bembi, Kalman Hideg, Olga Hankovszky

Journal:

Inorganica Chimica Acta

Année:

1982

Langue:

english

Fichier:

PDF, 280 KB

english, 1982

37

Synthesis and base hydrolysis kinetics of [Co-([15]aneN5)DMF]3+. The accelerated hydrolysis of an o-coordinated amide and base hydrolysis of the resulting formato complex

Robert W. Hay, Ramesh Bembi

Journal:

Inorganica Chimica Acta

Année:

1982

Langue:

english

Fichier:

PDF, 292 KB

english, 1982

38

The [Co([15]aneN5)OH]2+ promoted hydrolysis of 4-nitrophenyl acetate

Robert W. Hay, Ramesh Bembi

Journal:

Inorganica Chimica Acta

Année:

1982

Langue:

english

Fichier:

PDF, 271 KB

english, 1982

39

The preparation of the trans-bis imidazole and some carboxylato bonded trans-bis amino acid derivatives of the cobalt(III) complex of the macrocyclic ligand, 5,12-dimethyl-1,4,8,11-tetraazacyclotetradeca-4,11-diene

Robert W. Hay, Ramesh Bembi

Journal:

Inorganica Chimica Acta

Année:

1982

Langue:

english

Fichier:

PDF, 229 KB

english, 1982

40

The preparation of copper(II) complexes of N,N′, N″, N″-tetra(2-cyanoethyl)-1,4,8,11-tetraazacyclotetradecane and studies of the acid dissociation kinetics

Robert W. Hay, Ramesh Bembi

Journal:

Inorganica Chimica Acta

Année:

1982

Langue:

english

Fichier:

PDF, 298 KB

english, 1982

41

A binuclear copper(II) complex N,N′,N″,N‴ tetra(2-aminoethyl)-1,1,5,5-pentanetetraamide. A double cavity amide ligand

Robert W. Hay, Ramesh Bembi, Fiona McLaren

Journal:

Inorganica Chimica Acta

Année:

1981

Langue:

english

Fichier:

PDF, 224 KB

english, 1981

42

Colloid chemical behaviour of potassium dicyano-bis-(histidino)ferrate(II)

W.U. Malik, Ramesh Bembi

Journal:

Journal of Electroanalytical Chemistry and Interfacial Electrochemistry

Année:

1972

Langue:

english

Fichier:

PDF, 287 KB

english, 1972

43

Miglustat (Zavesca®) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme

Carla E. M. Hollak, Derralynn Hughes, Ivo N. van Schaik, Barbara Schwierin, Bruno Bembi

Journal:

Pharmacoepidemiology and Drug Safety

Année:

2009

Langue:

english

Fichier:

PDF, 96 KB

english, 2009

44

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site

Renu Tuteja, Narendra Tuteja, Franco Lilliu, Bruno Bembi, Renzo Galanello, Antonio Cao, Francisco E. Baralle

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 203 KB

english, 1994

45

Acid dissociation kinetics of the copper(II) Ccomplex of 1,5,8,12-tetra-azacyclo-octadecane ([18]aneN4) and the nickel(II) complex of 1,5,8,12-tetra-azacycloheptadecane ([17]aneN4)

Robert W. Hay, Mahesh P. Pujari, Ramesh Bembi

Journal:

Transition Metal Chemistry

Année:

1986

Langue:

english

Fichier:

PDF, 354 KB

english, 1986

46

The preparation and characterisation of chromium(III) complexes of C-meso-5, 12-dimethyl-1, 4, 8, 11-tetraazacyclotetradecane (LM). Aquation and base hydrolysis kinetics ofcis- andtrans-[CrLMCl2]+

Robert W. Hay, Mahesh P. Pujari, Ramesh Bembi, Bakir Jeragh, Paul R. Norman

Journal:

Transition Metal Chemistry

Année:

1989

Langue:

english

Fichier:

PDF, 758 KB

english, 1989

47

Polyazamacrocycles VIII. Polarographic behaviour of some tetraaza macrocyclic complexes of copper(II), nickel(II) and cobalt(III)

Ramesh Bembi, Randhir Singh, Satya V. Singh

Journal:

Transition Metal Chemistry

Année:

1991

Langue:

english

Fichier:

PDF, 280 KB

english, 1991

48

Synthesis and characterisation of cobalt(II), cobalt(III) and rhodium(III) complexes ofN, N′, N″, N‴-tetra(2-cyanoethyl) cyclam [TCEC] andN, N′, N″, N‴-tetra)3-aminopropyl) cyclam [TAPC]

Ramesh Bembi, Amrit K. Jhanji

Journal:

Transition Metal Chemistry

Année:

1989

Langue:

english

Fichier:

PDF, 414 KB

english, 1989

49

Polyazamacrocycles VI. Homo-trimetallic copper(II) and nickel(II) complexes with a new tri-cavity macrocycle

Ramesh Bembi, Tapashi G. Roy, Amrit K. Jhanji

Journal:

Transition Metal Chemistry

Année:

1989

Langue:

english

Fichier:

PDF, 318 KB

english, 1989

50

Spectrophotometric determination of chromium(III) using potassium hexacyanoferrate(II)

W. U. Malik, Ramesh Bembi

Journal:

Microchimica Acta

Année:

1975

Langue:

english

Fichier:

PDF, 168 KB

english, 1975