Morrone A - Search Results

1

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: morrone a. Hum Genet. 2005 May;116(6):542. Hum Genet. 2005. PMID: 15991326 No abstract available.

2

An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy.

Fidzianska A, Morrone A, Pegoraro E, Ryniewicz B, Ilnicka A, Zammarchi E, Hoffman EP. Fidzianska A, et al. Among authors: morrone a. Neuropediatrics. 1995 Jun;26(3):163-7. doi: 10.1055/s-2007-979747. Neuropediatrics. 1995. PMID: 7477755

3

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.

Morrone A, Morreau H, Zhou XY, Zammarchi E, Kleijer WJ, Galjaard H, d'Azzo A. Morrone A, et al. Hum Mutat. 1994;3(2):112-20. doi: 10.1002/humu.1380030205. Hum Mutat. 1994. PMID: 8199591

4

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.

Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, d'Azzo A. Zammarchi E, et al. Among authors: morrone a. Am J Med Genet. 1996 Aug 23;64(3):453-8. doi: 10.1002/(SICI)1096-8628(19960823)64:3<453::AID-AJMG2>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8862621

5

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.

Zhou XY, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry GT, Strisciuglio P, Morrone A, Zammarchi E, Andria G, d'Azzo A. Zhou XY, et al. Among authors: morrone a. Hum Mol Genet. 1996 Dec;5(12):1977-87. doi: 10.1093/hmg/5.12.1977. Hum Mol Genet. 1996. PMID: 8968752

6

Asymptomatic dystrophinopathy.

Morrone A, Zammarchi E, Scacheri PC, Donati MA, Hoop RC, Servidei S, Galluzzi G, Hoffman EP. Morrone A, et al. Am J Med Genet. 1997 Mar 31;69(3):261-7. doi: 10.1002/(sici)1096-8628(19970331)69:3<261::aid-ajmg9>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9096754

7

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

Morrone A, Pegoraro E, Angelini C, Zammarchi E, Marconi G, Hoffman EP. Morrone A, et al. J Clin Invest. 1997 Apr 1;99(7):1691-8. doi: 10.1172/JCI119332. J Clin Invest. 1997. PMID: 9120013 Free PMC article.

8

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

9

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

10

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.

Porfirio B, Chiarelli I, Graziano C, Mannoni A, Morrone A, Zammarchi E, De Bernabé DB, De Córdoba SR. Porfirio B, et al. Among authors: morrone a. J Med Genet. 2000 Apr;37(4):309-12. doi: 10.1136/jmg.37.4.309. J Med Genet. 2000. PMID: 10819641 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

428 results

Search Page

Filters