Caciotti A - Search Results

1

Morquio B disease: From pathophysiology towards diagnosis.

Caciotti A, Cellai L, Tonin R, Mei D, Procopio E, Di Rocco M, Andaloro A, Antuzzi D, Rampazzo A, Rigoldi M, Forni G, la Marca G, Guerrini R, Morrone A. Caciotti A, et al. Mol Genet Metab. 2021 Mar;132(3):180-188. doi: 10.1016/j.ymgme.2021.01.008. Epub 2021 Feb 1. Mol Genet Metab. 2021. PMID: 33558080

2

Fluctuation of bacteria isolated from elm tissues during different seasons and from different plant organs.

Mocali S, Bertelli E, Di Cello F, Mengoni A, Sfalanga A, Viliani F, Caciotti A, Tegli S, Surico G, Fani R. Mocali S, et al. Among authors: caciotti a. Res Microbiol. 2003 Mar;154(2):105-14. doi: 10.1016/S0923-2508(03)00031-7. Res Microbiol. 2003. PMID: 12648725 Free article.

3

Severe prognosis in a large family with hypokalemic periodic paralysis.

Caciotti A, Morrone A, Domenici R, Donati MA, Zammarchi E. Caciotti A, et al. Muscle Nerve. 2003 Feb;27(2):165-9. doi: 10.1002/mus.10298. Muscle Nerve. 2003. PMID: 12548523

4

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

Caciotti A, Bardelli T, Cunningham J, D'Azzo A, Zammarchi E, Morrone A. Caciotti A, et al. Hum Genet. 2003 Jul;113(1):44-50. doi: 10.1007/s00439-003-0930-8. Epub 2003 Mar 19. Hum Genet. 2003. PMID: 12644936

5

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.

Malvagia S, Morrone A, Caciotti A, Bardelli T, d'Azzo A, Ancora G, Zammarchi E, Donati MA. Malvagia S, et al. Among authors: caciotti a. Mol Genet Metab. 2004 May;82(1):48-55. doi: 10.1016/j.ymgme.2004.02.007. Mol Genet Metab. 2004. PMID: 15110321

6

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, D'Azzo A. Georgiou T, et al. Among authors: caciotti a. Hum Mutat. 2004 Oct;24(4):352. doi: 10.1002/humu.9279. Hum Mutat. 2004. PMID: 15365997

7

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Caciotti A, et al. Hum Mutat. 2005 Mar;25(3):285-92. doi: 10.1002/humu.20147. Hum Mutat. 2005. PMID: 15714521 Free article.

8

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, D'azzo A, Drousiotou A. Georgiou T, et al. Among authors: caciotti a. Genet Test. 2005 Summer;9(2):126-32. doi: 10.1089/gte.2005.9.126. Genet Test. 2005. PMID: 15943552

9

Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.

Drousiotou A, Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d Azzo A. Drousiotou A, et al. Among authors: caciotti a. Hum Genet. 2005 May;116(6):534. Hum Genet. 2005. PMID: 15988828 No abstract available.

10

Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.

Drousiotou A, Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d Azzo A. Drousiotou A, et al. Among authors: caciotti a. Hum Genet. 2005 May;116(6):542. Hum Genet. 2005. PMID: 15991326 No abstract available.

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