Donati MA - 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: donati ma. 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

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: donati ma. Mol Genet Metab. 2001 Jul;73(3):268-75. doi: 10.1006/mgme.2001.3191. Mol Genet Metab. 2001. PMID: 11461194

3

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

4

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: donati ma. Hum Mutat. 2002 Sep;20(3):231. doi: 10.1002/humu.9051. Hum Mutat. 2002. PMID: 12203999

5

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: donati ma. Hum Mutat. 2002 Dec;20(6):480. doi: 10.1002/humu.9093. Hum Mutat. 2002. PMID: 12442284

6

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: donati ma. 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

7

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: donati ma. Hum Mutat. 2003 Oct;22(4):337. doi: 10.1002/humu.9177. Hum Mutat. 2003. PMID: 12955720

8

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

9

Clinical and molecular findings in children with complex I deficiency.

Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M. Bugiani M, et al. Among authors: donati ma. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. doi: 10.1016/j.bbabio.2004.09.006. Biochim Biophys Acta. 2004. PMID: 15576045 Free article.

10

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: donati ma. J Inherit Metab Dis. 2005;28(5):801-2. doi: 10.1007/s10545-005-0053-6. J Inherit Metab Dis. 2005. PMID: 16151916

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