Donati MA - Search Results

1

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N. Leuzzi V, et al. Among authors: donati ma. Clin Genet. 2010 Mar;77(3):249-57. doi: 10.1111/j.1399-0004.2009.01306.x. Epub 2009 Jan 3. Clin Genet. 2010. PMID: 20059486

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: 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

3

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.

Bardelli T, Donati MA, Gasperini S, Ciani F, Belli F, Blau N, Morrone A, Zammarchi E. Bardelli T, et al. Among authors: donati ma. Mol Genet Metab. 2002 Nov;77(3):260-6. doi: 10.1016/s1096-7192(02)00166-x. Mol Genet Metab. 2002. PMID: 12409276

4

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.

5

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A. Ferri L, et al. Among authors: donati ma. Clin Genet. 2012 Mar;81(3):224-33. doi: 10.1111/j.1399-0004.2011.01689.x. Epub 2011 May 25. Clin Genet. 2012. PMID: 21517827

6

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, Cassanello M, Donati MA, Siciliano G, D'Amico A, Lilliu F, Bruno C, Angelini C. Fanin M, et al. Among authors: donati ma. Clin Genet. 2012 Sep;82(3):232-9. doi: 10.1111/j.1399-0004.2011.01786.x. Epub 2011 Oct 12. Clin Genet. 2012. PMID: 21913903

7

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

Funghini S, Thusberg J, Spada M, Gasperini S, Parini R, Ventura L, Meli C, De Cosmo L, Sibilio M, Mooney SD, Guerrini R, Donati MA, Morrone A. Funghini S, et al. Among authors: donati ma. Gene. 2012 Feb 10;493(2):228-34. doi: 10.1016/j.gene.2011.11.052. Epub 2011 Dec 7. Gene. 2012. PMID: 22173106

8

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca G, Guerrini R, Donati MA, Morrone A. Ferri L, et al. Among authors: donati ma. Clin Genet. 2014 Oct;86(4):367-72. doi: 10.1111/cge.12297. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24117009

9

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.

Concolino D, Amico L, Cappellini MD, Cassinerio E, Conti M, Donati MA, Falvo F, Fiumara A, Maccarone M, Manna R, Matucci A, Musumeci MB, Nicoletti A, Nisticò R, Papadia F, Parini R, Peluso D, Pensabene L, Pisani A, Pistone G, Rigoldi M, Romani I, Tenuta M, Torti G, Veroux M, Zachara E. Concolino D, et al. Among authors: donati ma. Mol Genet Metab Rep. 2017 Jun 22;12:85-91. doi: 10.1016/j.ymgmr.2017.06.005. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28702361 Free PMC article.

10

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Among authors: donati ma. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154

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