Parini R - Search Results

1

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

Venturi N, Rovelli A, Parini R, Menni F, Brambillasca F, Bertagnolio F, Uziel G, Gatti R, Filocamo M, Donati MA, Biondi A, Goldwurm S. Venturi N, et al. Among authors: parini r. Hum Mutat. 2002 Sep;20(3):231. doi: 10.1002/humu.9051. Hum Mutat. 2002. PMID: 12203999

2

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

Lucchiari S, Donati MA, Parini R, Melis D, Gatti R, Bresolin N, Scarlato G, Comi GP. Lucchiari S, et al. Among authors: parini r. Hum Mutat. 2002 Dec;20(6):480. doi: 10.1002/humu.9093. Hum Mutat. 2002. PMID: 12442284

3

Mutational analysis of the AGL gene: five novel mutations in GSD III patients.

Lucchiari S, Donati MA, Melis D, Filocamo M, Parini R, Bresolin N, Comi GP. Lucchiari S, et al. Among authors: parini r. Hum Mutat. 2003 Oct;22(4):337. doi: 10.1002/humu.9177. Hum Mutat. 2003. PMID: 12955720

4

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

Cavicchi C, Donati MA, Pasquini E, Poggi GM, Dionisi-Vici C, Parini R, Zammarchi E, Morrone A. Cavicchi C, et al. Among authors: parini r. J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x. J Inherit Metab Dis. 2005. PMID: 16435223

5

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. Among authors: parini r. 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

6

Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases.

Gaipa G, Dassi M, Perseghin P, Venturi N, Corti P, Bonanomi S, Balduzzi A, Longoni D, Uderzo C, Biondi A, Masera G, Parini R, Bertagnolio B, Uziel G, Peters C, Rovelli A. Gaipa G, et al. Among authors: parini r. Bone Marrow Transplant. 2003 May;31(10):857-60. doi: 10.1038/sj.bmt.1704024. Bone Marrow Transplant. 2003. PMID: 12748661

7

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Bisanzi S, et al. Among authors: parini r. Mol Genet Metab. 2002 Jun;76(2):137-44. doi: 10.1016/s1096-7192(02)00028-8. Mol Genet Metab. 2002. PMID: 12083811

8

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, Zammarchi E, d'Azzo A. Bonten EJ, et al. Among authors: parini r. Hum Mol Genet. 2000 Nov 1;9(18):2715-25. doi: 10.1093/hmg/9.18.2715. Hum Mol Genet. 2000. PMID: 11063730

9

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V. Galli L, et al. Among authors: parini r. FEBS Lett. 1999 Oct 8;459(2):255-8. doi: 10.1016/s0014-5793(99)01248-x. FEBS Lett. 1999. PMID: 10518030 Free article.

10

GALNS gene expression profiling in Morquio A patients' fibroblasts.

Carraresi L, Parini R, Filoni C, Caciotti A, Sersale G, Tomatsu S, Orlando C, Zammarchi E, Guerrini R, Donati MA, Morrone A. Carraresi L, et al. Among authors: parini r. Clin Chim Acta. 2008 Nov;397(1-2):72-6. doi: 10.1016/j.cca.2008.07.021. Epub 2008 Jul 25. Clin Chim Acta. 2008. PMID: 18710657

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