Donati MA - Search Results

1

Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A. Bembi B, et al. Among authors: donati ma. Neurology. 2008 Dec 2;71(23 Suppl 2):S4-11. doi: 10.1212/WNL.0b013e31818da91e. Neurology. 2008. PMID: 19047572 Review.

2

X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.

Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D. Mora M, et al. Among authors: donati ma. Ann Neurol. 1997 Aug;42(2):249-53. doi: 10.1002/ana.410420218. Ann Neurol. 1997. PMID: 9266737

3

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: donati ma. J Inherit Metab Dis. 2002 Aug;25(4):328-30. doi: 10.1023/a:1016522912849. J Inherit Metab Dis. 2002. PMID: 12227467

4

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

5

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Bruno C, et al. Among authors: donati ma. Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. Neurology. 2004. PMID: 15452297

6

Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function.

Pela I, Gasperini S, Pasquini E, Donati MA. Pela I, et al. Among authors: donati ma. Clin Nephrol. 2006 Jul;66(1):63-6. doi: 10.5414/cnp66063. Clin Nephrol. 2006. PMID: 16878438

7

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

Pittis MG, Donnarumma M, Montalvo AL, Dominissini S, Kroos M, Rosano C, Stroppiano M, Bianco MG, Donati MA, Parenti G, D'Amico A, Ciana G, Di Rocco M, Reuser A, Bembi B, Filocamo M. Pittis MG, et al. Among authors: donati ma. Hum Mutat. 2008 Jun;29(6):E27-36. doi: 10.1002/humu.20753. Hum Mutat. 2008. PMID: 18429042

8

Management and treatment of glycogenosis type II.

Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A. Bembi B, et al. Among authors: donati ma. Neurology. 2008 Dec 2;71(23 Suppl 2):S12-36. doi: 10.1212/WNL.0b013e31818da93f. Neurology. 2008. PMID: 19047571 Review.

9

Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.

Micheletti MV, Lavoratti G, Gasperini S, Donati MA, Pela I. Micheletti MV, et al. Among authors: donati ma. Clin Nephrol. 2011 Jul;76(1):68-73. doi: 10.5414/cn106681. Clin Nephrol. 2011. PMID: 21722608

10

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A; Italian GSDII Group. Angelini C, et al. Among authors: donati ma. J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12. J Neurol. 2012. PMID: 22081099

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