Amartino H - Search Results

1

Sulthiame add-on therapy in children with focal epilepsies associated with encephalopathy related to electrical status epilepticus during slow sleep (ESES).

Fejerman N, Caraballo R, Cersósimo R, Ferraro SM, Galicchio S, Amartino H. Fejerman N, et al. Among authors: amartino h. Epilepsia. 2012 Jul;53(7):1156-61. doi: 10.1111/j.1528-1167.2012.03458.x. Epub 2012 Apr 17. Epilepsia. 2012. PMID: 22509732 Free article.

2

[Congenital mirror movements. Three new cases of a rare condition].

Ruggieri V, Amartino H, Fejerman N. Ruggieri V, et al. Among authors: amartino h. Rev Neurol. 1999 Oct 16-31;29(8):731-5. Rev Neurol. 1999. PMID: 10560107 Spanish.

3

Benign familial infantile seizures: further delineation of the syndrome.

Caraballo RH, Cersósimo RO, Amartino H, Szepetowski P, Fejerman N. Caraballo RH, et al. Among authors: amartino h. J Child Neurol. 2002 Sep;17(9):696-9. doi: 10.1177/088307380201700909. J Child Neurol. 2002. PMID: 12503648

4

Epilepsy in mucopolysaccharidosis disorders.

Scarpa M, Lourenço CM, Amartino H. Scarpa M, et al. Among authors: amartino h. Mol Genet Metab. 2017 Dec;122S:55-61. doi: 10.1016/j.ymgme.2017.10.006. Epub 2017 Oct 16. Mol Genet Metab. 2017. PMID: 29170080 Free article. Review.

5

[Neuropathic pain in Fabry's disease: heterogeneous remission in three years of enzyme replacement therapy].

Domínguez RO, Amartino H, Chamoles NA; Grupo de Estudio de la Enfermedad de Fabry. Domínguez RO, et al. Among authors: amartino h. Rev Neurol. 2006 Aug 16-31;43(4):201-6. Rev Neurol. 2006. PMID: 16883508 Free article. Spanish.

6

[Restless legs syndrome in Fabry disease: clinical feature associated to neuropathic pain is overlooked].

Domínguez RO, Michref A, Tanus E, Amartino H. Domínguez RO, et al. Among authors: amartino h. Rev Neurol. 2007 Oct 16-31;45(8):474-8. Rev Neurol. 2007. PMID: 17948213 Free article. Spanish.

7

Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry.

Politei JM, Cabrera G, Amartino H, Valdez R, Masllorens F, Ripeau D, Antongiovanni N, Soliani A, Luna P, Cedrolla M, Fernandez S, Fainboim A. Politei JM, et al. Among authors: amartino h. Int J Clin Pract. 2013 Jan;67(1):66-72. doi: 10.1111/ijcp.12081. Int J Clin Pract. 2013. PMID: 23241050

8

Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.

Clarke LA, Winchester B, Giugliani R, Tylki-Szymańska A, Amartino H. Clarke LA, et al. Among authors: amartino h. Mol Genet Metab. 2012 Aug;106(4):395-402. doi: 10.1016/j.ymgme.2012.05.003. Epub 2012 May 14. Mol Genet Metab. 2012. PMID: 22658917 Review.

9

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: amartino h. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.

10

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

Amartino H, Ceci R, Masllorens F, Gal A, Arberas C, Bay L, Ilari R, Dipierri J, Specola N, Cabrera A, Rozenfeld P. Amartino H, et al. Mol Genet Metab Rep. 2014 Sep 17;1:401-406. doi: 10.1016/j.ymgmr.2014.08.006. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896113 Free PMC article.

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