Morrone A - Search Results

1

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

Morrone A, Caciotti A, Atwood R, Davidson K, Du C, Francis-Lyon P, Harmatz P, Mealiffe M, Mooney S, Oron TR, Ryles A, Zawadzki KA, Miller N. Morrone A, et al. Hum Mutat. 2014 Nov;35(11):1271-9. doi: 10.1002/humu.22635. Epub 2014 Sep 17. Hum Mutat. 2014. PMID: 25137622 Free PMC article. Review.

2

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. Morrone A, et al. Hum Mutat. 2000;15(4):354-66. doi: 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10737981

3

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.

Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E. Giorgi M, et al. Among authors: morrone a. Hum Mutat. 2000 Apr;15(4):380-1. doi: 10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU12>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10737985

4

Severe prognosis in a large family with hypokalemic periodic paralysis.

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

5

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. Among authors: morrone a. Hum Genet. 2003 Jul;113(1):44-50. doi: 10.1007/s00439-003-0930-8. Epub 2003 Mar 19. Hum Genet. 2003. PMID: 12644936

6

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

Funghini S, Donati MA, Pasquini E, Zammarchi E, Morrone A. Funghini S, et al. Among authors: morrone a. Hum Mutat. 2003 Oct;22(4):340-1. doi: 10.1002/humu.9184. Hum Mutat. 2003. PMID: 12955727

7

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: morrone a. Mol Genet Metab. 2004 May;82(1):48-55. doi: 10.1016/j.ymgme.2004.02.007. Mol Genet Metab. 2004. PMID: 15110321

8

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: morrone a. Hum Mutat. 2004 Oct;24(4):352. doi: 10.1002/humu.9279. Hum Mutat. 2004. PMID: 15365997

9

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. Among authors: morrone a. Hum Mutat. 2005 Mar;25(3):285-92. doi: 10.1002/humu.20147. Hum Mutat. 2005. PMID: 15714521

10

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: morrone a. Genet Test. 2005 Summer;9(2):126-32. doi: 10.1089/gte.2005.9.126. Genet Test. 2005. PMID: 15943552

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