Pasquini E - Search Results

1

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.

Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M. Diodato D, et al. Among authors: pasquini e. JIMD Rep. 2015;15:71-8. doi: 10.1007/8904_2014_300. Epub 2014 Apr 17. JIMD Rep. 2015. PMID: 24740313 Free PMC article.

2

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: pasquini e. Mol Genet Metab. 2002 Jun;76(2):137-44. doi: 10.1016/s1096-7192(02)00028-8. Mol Genet Metab. 2002. PMID: 12083811

3

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: pasquini e. J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x. J Inherit Metab Dis. 2005. PMID: 16435223

4

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

Bertini E, Donati MA, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli FM, Bruno C. Bertini E, et al. Among authors: pasquini e. Neuropediatrics. 2005 Oct;36(5):309-13. doi: 10.1055/s-2005-872844. Neuropediatrics. 2005. PMID: 16217705

5

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

Funghini S, Pasquini E, Cappellini M, Donati MA, Morrone A, Fonda C, Zammarchi E. Funghini S, et al. Among authors: pasquini e. Mol Genet Metab. 2001 Jul;73(3):268-75. doi: 10.1006/mgme.2001.3191. Mol Genet Metab. 2001. PMID: 11461194

6

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Funghini S, Morrone A, Pasquini E, Zammarchi E, Donati MA. Funghini S, et al. Among authors: pasquini e. J Inherit Metab Dis. 2005;28(5):801-2. doi: 10.1007/s10545-005-0053-6. J Inherit Metab Dis. 2005. PMID: 16151916

7

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: pasquini e. Hum Mutat. 2003 Oct;22(4):340-1. doi: 10.1002/humu.9184. Hum Mutat. 2003. PMID: 12955727

8

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Funghini S, Donati MA, Pasquini E, Gasperini S, Ciani F, Morrone A, Zammarchi E. Funghini S, et al. Among authors: pasquini e. J Inherit Metab Dis. 2002 Aug;25(4):328-30. doi: 10.1023/a:1016522912849. J Inherit Metab Dis. 2002. PMID: 12227467

9

The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient.

Malvagia S, Poggi GM, Pasquini E, Donati MA, Pela I, Morrone A, Zammarchi E. Malvagia S, et al. Among authors: pasquini e. Pediatr Res. 2003 Nov;54(5):635-40. doi: 10.1203/01.PDR.0000084113.41375.1E. Epub 2003 Aug 6. Pediatr Res. 2003. PMID: 12904605

10

Self-mutilation in a patient with mucolipidosis III.

Zammarchi E, Savelli A, Donati MA, Pasquini E. Zammarchi E, et al. Among authors: pasquini e. Pediatr Neurol. 1994 Jul;11(1):68-70. doi: 10.1016/0887-8994(94)90096-5. Pediatr Neurol. 1994. PMID: 7986298

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